#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AAK1	22848	genome.wustl.edu	37	2	69736497	69736497	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:69736497G>T	ENST00000409085.4	-	14	2248	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	AAK1_ENST00000406297.3_Silent_p.S624S|AAK1_ENST00000409068.1_Silent_p.S624S	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	624					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGGTTTTGGGGGATGAGGGTG	0.567																																						dbGAP											0													81.0	81.0	81.0					2																	69736497		1936	4140	6076	-	-	-	SO:0001819	synonymous_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1872C>A	2.37:g.69736497G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S624	ENST00000409085.4	37	c.1872	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.567	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	68	0.00	0	G	NM_014911		69736497	69736497	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	56	20.00	14	SNP	0.999	T
ABCA12	26154	genome.wustl.edu	37	2	215851424	215851424	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:215851424G>A	ENST00000272895.7	-	28	4224	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I	ABCA12_ENST00000389661.4_Silent_p.I1017I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1335					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTCAGGCTCGATGTTAGAGG	0.418																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													72.0	70.0	71.0					2																	215851424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4005C>T	2.37:g.215851424G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1335	ENST00000272895.7	37	c.4005	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	116	0.00	0	G	NM_173076		215851424	215851424	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	silent	113	13.64	18	SNP	0.994	A
ABCA8	10351	genome.wustl.edu	37	17	66938107	66938107	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:66938107delT	ENST00000269080.2	-	2	206	c.69delA	c.(67-69)aaafs	p.K23fs	ABCA8_ENST00000430352.2_Frame_Shift_Del_p.K23fs|ABCA8_ENST00000586539.1_Frame_Shift_Del_p.K23fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	23					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATTCTCCATTTTTTAAGAA	0.343																																						dbGAP											0													170.0	164.0	166.0					17																	66938107		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.69delA	17.37:g.66938107delT	ENSP00000269080:p.Lys23fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K23fs	ENST00000269080.2	37	c.69	CCDS11680.1	17																																																																																			ABCA8	-	NULL	ENSG00000141338		0.343	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	160	0.00	0	T	NM_007168		66938107	66938107	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	frame_shift_del	170	16.43	34	DEL	1.000	-
ABCA6	23460	genome.wustl.edu	37	17	67102267	67102267	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:67102267T>C	ENST00000284425.2	-	19	2649	c.2475A>G	c.(2473-2475)acA>acG	p.T825T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	825					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CACTCACAGCTGTCTGCATTT	0.438																																						dbGAP											0													112.0	100.0	104.0					17																	67102267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2475A>G	17.37:g.67102267T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T825	ENST00000284425.2	37	c.2475	CCDS11683.1	17																																																																																			ABCA6	-	NULL	ENSG00000154262		0.438	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	163	0.00	0	T	NM_080284		67102267	67102267	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	110	39.56	72	SNP	0.002	C
ABCB11	8647	genome.wustl.edu	37	2	169825987	169825987	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:169825987A>G	ENST00000263817.6	-	16	2008	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	628	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CATGTTCAAAACCAATGATGG	0.443																																						dbGAP											0													111.0	102.0	105.0					2																	169825987		1957	4155	6112	-	-	-	SO:0001819	synonymous_variant	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1884T>C	2.37:g.169825987A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G628	ENST00000263817.6	37	c.1884	CCDS46444.1	2																																																																																			ABCB11	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000073734		0.443	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	53	0.00	0	A	NM_003742		169825987	169825987	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	silent	35	23.91	11	SNP	0.985	G
ABCC12	94160	genome.wustl.edu	37	16	48174749	48174749	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:48174749A>G	ENST00000311303.3	-	4	851	c.506T>C	c.(505-507)cTt>cCt	p.L169P	ABCC12_ENST00000416054.1_Missense_Mutation_p.L169P|ABCC12_ENST00000448542.1_Missense_Mutation_p.L169P	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	169	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGTGGCAAAAAGGGCTATGCA	0.532																																						dbGAP											0													100.0	100.0	100.0					16																	48174749		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.506T>C	16.37:g.48174749A>G	ENSP00000311030:p.Leu169Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L169P	ENST00000311303.3	37	c.506	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	A	13.68	2.309754	0.40895	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.93307	-3.2;-3.2;-3.2	6.07	4.99	0.66335	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.95839	0.8864	10	0.87932	D	0	.	10.0154	0.42011	0.9229:0.0:0.0771:0.0	.	169;169	Q96J65-2;Q96J65	.;MRP9_HUMAN	P	169	ENSP00000311030:L169P;ENSP00000401855:L169P;ENSP00000413046:L169P	ENSP00000311030:L169P	L	-	2	0	ABCC12	46732250	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	7.825000	0.86693	1.119000	0.41883	-0.256000	0.11100	CTT	ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	228	0.00	0	A	NM_033226		48174749	48174749	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	missense	208	20.31	53	SNP	1.000	G
ABCC4	10257	genome.wustl.edu	37	13	95725651	95725651	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:95725651G>A	ENST00000376887.4	-	24	3032				ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Intron	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4						blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ccttcataatgttgaaacaat	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2918-93C>T	13.37:g.95725651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	RNA	SNP	-	NULL	ENST00000376887.4	37	NULL	CCDS9474.1	13																																																																																			ABCC4	-	-	ENSG00000125257		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	63	0.00	0	G	NM_005845		95725651	95725651	-1	no_errors	ENST00000474158	ensembl	human	known	69_37n	rna	91	11.65	12	SNP	0.000	A
ABCF1	23	genome.wustl.edu	37	6	30547721	30547721	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30547721A>G	ENST00000326195.8	+	7	615	c.503A>G	c.(502-504)gAa>gGa	p.E168G	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E168G	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	168	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GTATCTGAGGAACAGCAGCCT	0.458																																						dbGAP											0													101.0	68.0	80.0					6																	30547721		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.503A>G	6.37:g.30547721A>G	ENSP00000313603:p.Glu168Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E168G	ENST00000326195.8	37	c.503	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121017	0.56613	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.56611	0.46;0.93;0.64;0.45	4.31	4.31	0.51392	.	0.377801	0.26279	N	0.025292	T	0.25044	0.0608	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29716	0.059;0.119;0.255	B;B;B	0.33568	0.018;0.166;0.166	T	0.22068	-1.0227	10	0.56958	D	0.05	-15.1999	10.1403	0.42732	1.0:0.0:0.0:0.0	.	168;168;168	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	G	168;168;169;169;71	ENSP00000313603:E168G;ENSP00000365728:E168G;ENSP00000405512:E169G;ENSP00000440893:E71G	ENSP00000313603:E168G	E	+	2	0	ABCF1	30655700	0.997000	0.39634	0.655000	0.29622	0.809000	0.45718	3.663000	0.54518	1.707000	0.51288	0.260000	0.18958	GAA	ABCF1	-	NULL	ENSG00000204574		0.458	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	77	0.00	0	A			30547721	30547721	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	missense	48	36.84	28	SNP	0.983	G
ABHD15	116236	genome.wustl.edu	37	17	27889671	27889671	+	Missense_Mutation	SNP	G	G	A	rs201924599		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:27889671G>A	ENST00000307201.4	-	2	1485	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	439						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCACGACGACGGCCCCCAAGG	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18643	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	69.0	68.0					17																	27889671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1315C>T	17.37:g.27889671G>A	ENSP00000302657:p.Arg439Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.R439C	ENST00000307201.4	37	c.1315	CCDS32602.1	17	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.60	3.429816	0.62844	.	.	ENSG00000168792	ENST00000307201	T	0.19806	2.12	5.77	5.77	0.91146	.	0.308318	0.26844	N	0.022205	T	0.19485	0.0468	L	0.27053	0.805	0.58432	D	0.999993	B	0.09022	0.002	B	0.04013	0.001	T	0.02588	-1.1137	10	0.87932	D	0	-0.3555	18.5708	0.91135	0.0:0.0:1.0:0.0	.	439	Q6UXT9	ABH15_HUMAN	C	439	ENSP00000302657:R439C	ENSP00000302657:R439C	R	-	1	0	ABHD15	24913797	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.223000	0.51231	2.745000	0.94114	0.655000	0.94253	CGT	ABHD15	-	NULL	ENSG00000168792		0.557	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	43	0.00	0	G	NM_198147		27889671	27889671	-1	no_errors	ENST00000307201	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	A
ACAD9	28976	genome.wustl.edu	37	3	128631359	128631359	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:128631359A>G	ENST00000308982.7	+	18	1856	c.1775A>G	c.(1774-1776)gAa>gGa	p.E592G	RP11-723O4.6_ENST00000508239.1_Intron|KIAA1257_ENST00000511438.1_Intron|ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	592						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GATGCTCCAGAAAACCTAGAT	0.502																																						dbGAP											0													82.0	72.0	75.0					3																	128631359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1775A>G	3.37:g.128631359A>G	ENSP00000312618:p.Glu592Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E592G	ENST00000308982.7	37	c.1775	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761421	0.49468	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	T	0.80033	-1.33	5.47	4.27	0.50696	.	0.048192	0.85682	N	0.000000	T	0.75997	0.3926	M	0.68952	2.095	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.68250	-0.5458	10	0.23302	T	0.38	.	10.5914	0.45312	0.838:0.162:0.0:0.0	.	592	Q9H845	ACAD9_HUMAN	G	592;459	ENSP00000312618:E592G	ENSP00000312618:E592G	E	+	2	0	ACAD9	130114049	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.331000	0.65905	0.860000	0.35481	0.482000	0.46254	GAA	ACAD9	-	NULL	ENSG00000177646		0.502	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	55	0.00	0	A	NM_014049		128631359	128631359	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	1.000	G
ACAP1	9744	genome.wustl.edu	37	17	7246715	7246715	+	Missense_Mutation	SNP	G	G	A	rs184747187	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:7246715G>A	ENST00000158762.3	+	6	568	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	121	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CGGGGTTTCCGAGAGGCTCGC	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15072	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													50.0	60.0	56.0					17																	7246715		2201	4300	6501	-	-	-	SO:0001583	missense	0			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.362G>A	17.37:g.7246715G>A	ENSP00000158762:p.Arg121Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XN9	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP	p.R121Q	ENST00000158762.3	37	c.362	CCDS11101.1	17	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.81	3.480194	0.63849	.	.	ENSG00000072818	ENST00000158762	T	0.04406	3.63	5.24	5.24	0.73138	Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.146541	0.44285	D	0.000474	T	0.05456	0.0144	L	0.48642	1.525	0.80722	D	1	P	0.45078	0.85	B	0.30401	0.115	T	0.32798	-0.9893	10	0.59425	D	0.04	.	16.6685	0.85259	0.0:0.0:1.0:0.0	.	121	Q15027	ACAP1_HUMAN	Q	121	ENSP00000158762:R121Q	ENSP00000158762:R121Q	R	+	2	0	ACAP1	7187439	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.788000	0.55446	2.618000	0.88619	0.462000	0.41574	CGA	ACAP1	-	pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000072818		0.632	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP1	HGNC	protein_coding	OTTHUMT00000220049.4	44	0.00	0	G	NM_014716		7246715	7246715	+1	no_errors	ENST00000158762	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	A
ACE2	59272	genome.wustl.edu	37	X	15584646	15584646	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:15584646delA	ENST00000252519.3	-	16	2100				ACE2_ENST00000427411.1_Intron|ACE2_ENST00000471548.1_5'Flank			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	tgtaattgtcaaaaaaaacat	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1998-154T>-	X.37:g.15584646delA		Somatic		WXS	Illumina GAIIx	Phase_IV	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	RNA	DEL	-	NULL	ENST00000252519.3	37	NULL	CCDS14169.1	X																																																																																			ACE2	-	-	ENSG00000130234		0.383	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	278	0.36	1	A			15584646	15584646	-1	no_errors	ENST00000473851	ensembl	human	known	69_37n	rna	228	20.96	61	DEL	0.000	-
ACIN1	22985	genome.wustl.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs	Somatic	764	WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E1294fs	ENST00000262710.1	37	c.3881_3880	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	123	0.81	1	TC	NM_014977		23528502	23528503	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	frame_shift_del	38	20.41	10	DEL	0.413:0.452	-
ACOT11	26027	genome.wustl.edu	37	1	55060296	55060296	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:55060296G>A	ENST00000371316.3	+	6	621	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ACOT11_ENST00000343744.2_Missense_Mutation_p.R180H|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	180					fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCGGCTGAGCGCCGGCGCATG	0.637																																					Ovarian(148;1440 1861 22015 32453 51933)	dbGAP											0													45.0	43.0	44.0					1																	55060296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.539G>A	1.37:g.55060296G>A	ENSP00000360366:p.Arg180His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd	p.R180H	ENST00000371316.3	37	c.539	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.426192	0.96131	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.52754	0.65;0.65	4.93	4.93	0.64822	.	0.104013	0.64402	D	0.000008	T	0.74726	0.3754	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.80544	-0.1335	10	0.72032	D	0.01	-19.3595	18.5484	0.91055	0.0:0.0:1.0:0.0	.	180;180	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	H	180	ENSP00000340260:R180H;ENSP00000360366:R180H	ENSP00000340260:R180H	R	+	2	0	ACOT11	54832884	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.279000	0.95777	2.448000	0.82819	0.561000	0.74099	CGC	ACOT11	-	NULL	ENSG00000162390		0.637	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	29	0.00	0	G	NM_015547		55060296	55060296	+1	no_errors	ENST00000371316	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	A
ACSL3	2181	genome.wustl.edu	37	2	223773533	223773533	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:223773533A>G	ENST00000357430.3	+	4	574	c.43A>G	c.(43-45)Aaa>Gaa	p.K15E	ACSL3_ENST00000392066.3_Missense_Mutation_p.K15E	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	15					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CATGAAGCTAAAACATACCAT	0.303			T	ETV1	prostate																																	dbGAP		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													60.0	67.0	65.0					2																	223773533		2142	4272	6414	-	-	-	SO:0001583	missense	0			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.43A>G	2.37:g.223773533A>G	ENSP00000350012:p.Lys15Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K15E	ENST00000357430.3	37	c.43	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425873	0.62733	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.35421	1.31;1.31	5.22	5.22	0.72569	.	0.112351	0.64402	D	0.000012	T	0.33147	0.0853	L	0.41710	1.295	0.80722	D	1	B	0.28439	0.212	B	0.30316	0.114	T	0.11155	-1.0599	10	0.45353	T	0.12	-19.3385	15.2663	0.73663	1.0:0.0:0.0:0.0	.	15	O95573	ACSL3_HUMAN	E	15	ENSP00000350012:K15E;ENSP00000375918:K15E	ENSP00000350012:K15E	K	+	1	0	ACSL3	223481777	1.000000	0.71417	0.969000	0.41365	0.993000	0.82548	6.176000	0.71955	2.183000	0.69458	0.533000	0.62120	AAA	ACSL3	-	NULL	ENSG00000123983		0.303	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	204	0.00	0	A	NM_004457		223773533	223773533	+1	no_errors	ENST00000357430	ensembl	human	known	69_37n	missense	160	37.98	98	SNP	1.000	G
ACTA2	59	genome.wustl.edu	37	10	90700995	90700995	+	Missense_Mutation	SNP	C	C	T	rs397516684		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:90700995C>T	ENST00000458208.1	-	6	1081	c.607G>A	c.(607-609)Gtt>Att	p.V203I	ACTA2_ENST00000224784.6_Missense_Mutation_p.V203I|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	203					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.V203I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CCAGTAGTAACGAAGGAATAG	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											110.0	84.0	93.0					10																	90700995		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.607G>A	10.37:g.90700995C>T	ENSP00000402373:p.Val203Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.V203I	ENST00000458208.1	37	c.607	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	16.80	3.221909	0.58560	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94330	-3.4;-3.4	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	N	0.21545	0.675	0.58432	D	0.999999	B	0.06786	0.001	B	0.17979	0.02	D	0.84770	0.0767	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	203	P62736	ACTA_HUMAN	I	203;203;158	ENSP00000224784:V203I;ENSP00000402373:V203I	ENSP00000224784:V203I	V	-	1	0	ACTA2	90690975	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	6.044000	0.71012	2.762000	0.94881	0.655000	0.94253	GTT	ACTA2	-	pfam_Actin-like,smart_Actin-like	ENSG00000107796		0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	82	0.00	0	C	NM_001613		90700995	90700995	-1	no_errors	ENST00000224784	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	T
ACTBL2	345651	genome.wustl.edu	37	5	56777574	56777574	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:56777574G>A	ENST00000423391.1	-	1	1062	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	321						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CTGGGTGCCAGGGTTATGATT	0.507																																						dbGAP											0													118.0	105.0	110.0					5																	56777574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.961C>T	5.37:g.56777574G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L321	ENST00000423391.1	37	c.961	CCDS34163.1	5																																																																																			ACTBL2	-	pfam_Actin-like,smart_Actin-like	ENSG00000169067		0.507	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	149	0.00	0	G	NM_001017992		56777574	56777574	-1	no_errors	ENST00000423391	ensembl	human	known	69_37n	silent	75	32.14	36	SNP	1.000	A
ACTBL2	345651	genome.wustl.edu	37	5	56777838	56777838	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:56777838C>T	ENST00000423391.1	-	1	798	c.697G>A	c.(697-699)Gca>Aca	p.A233T	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A233T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAGGAGGATGCGGCTGCCCTG	0.547																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											89.0	77.0	81.0					5																	56777838		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.697G>A	5.37:g.56777838C>T	ENSP00000416706:p.Ala233Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.A233T	ENST00000423391.1	37	c.697	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	C	4.258	0.046847	0.08243	.	.	ENSG00000169067	ENST00000423391	D	0.94793	-3.52	4.91	-0.149	0.13420	.	0.282498	0.29073	N	0.013222	T	0.80491	0.4633	N	0.01705	-0.755	0.36418	D	0.864125	B	0.11235	0.004	B	0.11329	0.006	T	0.70691	-0.4802	10	0.87932	D	0	.	3.4896	0.07633	0.4165:0.3231:0.0:0.2605	.	233	Q562R1	ACTBL_HUMAN	T	233	ENSP00000416706:A233T	ENSP00000416706:A233T	A	-	1	0	ACTBL2	56813595	1.000000	0.71417	0.505000	0.27651	0.222000	0.24845	2.523000	0.45580	0.272000	0.22027	0.655000	0.94253	GCA	ACTBL2	-	pfam_Actin-like,smart_Actin-like	ENSG00000169067		0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	104	0.00	0	C	NM_001017992		56777838	56777838	-1	no_errors	ENST00000423391	ensembl	human	known	69_37n	missense	98	25.76	34	SNP	0.942	T
ACTL8	81569	genome.wustl.edu	37	1	18149744	18149744	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:18149744C>A	ENST00000375406.1	+	2	457	c.241C>A	c.(241-243)Ctc>Atc	p.L81I		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	81					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TGTGCAGTACCTCTGGTCATT	0.587																																						dbGAP											0													101.0	94.0	96.0					1																	18149744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.241C>A	1.37:g.18149744C>A	ENSP00000364555:p.Leu81Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13104|Q96M75	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L81I	ENST00000375406.1	37	c.241	CCDS183.1	1	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.212511	0.01555	.	.	ENSG00000117148	ENST00000375406	D	0.94330	-3.4	5.4	-1.96	0.07525	.	1.075490	0.07364	N	0.884544	T	0.77343	0.4116	N	0.01410	-0.885	0.22710	N	0.998823	B	0.06786	0.001	B	0.08055	0.003	T	0.67635	-0.5620	10	0.87932	D	0	-17.1265	1.7245	0.02918	0.4118:0.2668:0.0789:0.2425	.	81	Q9H568	ACTL8_HUMAN	I	81	ENSP00000364555:L81I	ENSP00000364555:L81I	L	+	1	0	ACTL8	18022331	1.000000	0.71417	0.990000	0.47175	0.032000	0.12392	2.540000	0.45727	-0.002000	0.14469	-0.262000	0.10625	CTC	ACTL8	-	pfam_Actin-like,smart_Actin-like	ENSG00000117148		0.587	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1	63	0.00	0	C	NM_030812		18149744	18149744	+1	no_errors	ENST00000375406	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	1.000	A
ACTN4	81	genome.wustl.edu	37	19	39207906	39207906	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:39207906C>T	ENST00000252699.2	+	10	1169	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	ACTN4_ENST00000390009.3_Missense_Mutation_p.R146C|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	365					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCAAGCTGCGCCTCAGCAA	0.637																																					Colon(168;199 1940 10254 46213 46384)	dbGAP											0													102.0	78.0	86.0					19																	39207906		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1093C>T	19.37:g.39207906C>T	ENSP00000252699:p.Arg365Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.R365C	ENST00000252699.2	37	c.1093	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054953	0.55325	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.70045	-0.45;-0.45	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000001	T	0.78110	0.4232	M	0.93898	3.47	0.80722	D	1	B;B	0.32693	0.043;0.38	B;B	0.41988	0.333;0.372	T	0.82481	-0.0436	10	0.87932	D	0	.	11.0388	0.47818	0.1861:0.8139:0.0:0.0	.	365;365	E7EV83;O43707	.;ACTN4_HUMAN	C	365;365;146	ENSP00000252699:R365C;ENSP00000439497:R146C	ENSP00000252699:R365C	R	+	1	0	ACTN4	43899746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.989000	0.49393	2.314000	0.78098	0.561000	0.74099	CGC	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000130402		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	32	0.00	0	C			39207906	39207906	+1	no_errors	ENST00000252699	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
ADAL	161823	genome.wustl.edu	37	15	43639255	43639255	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:43639255T>C	ENST00000562188.1	+	7	610	c.594T>C	c.(592-594)gcT>gcC	p.A198A	ADAL_ENST00000428046.3_Intron|ADAL_ENST00000389651.4_Silent_p.A198A|ADAL_ENST00000422466.2_Silent_p.A198A			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	198					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		TTTTAGAAGCTAAGAAAGCAG	0.348																																						dbGAP											0													105.0	109.0	108.0					15																	43639255		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.594T>C	15.37:g.43639255T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHZ3|B4DQM8	Silent	SNP	pfam_A/AMP_deaminase_dom	p.A198	ENST00000562188.1	37	c.594		15																																																																																			ADAL	-	pfam_A/AMP_deaminase_dom	ENSG00000168803		0.348	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ADAL	HGNC	protein_coding	OTTHUMT00000432960.1	128	0.00	0	T	XM_091156		43639255	43639255	+1	no_errors	ENST00000422466	ensembl	human	known	69_37n	silent	75	24.24	24	SNP	1.000	C
ADAMTS12	81792	genome.wustl.edu	37	5	33881193	33881193	+	Intron	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:33881193A>G	ENST00000504830.1	-	2	825				ADAMTS12_ENST00000515401.1_Intron|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGCCAGGGCAGAGGAAGGAG	0.577										HNSCC(64;0.19)																												dbGAP											0													45.0	43.0	43.0					5																	33881193		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.489+30T>C	5.37:g.33881193A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	RNA	SNP	-	NULL	ENST00000504830.1	37	NULL	CCDS34140.1	5																																																																																			ADAMTS12	-	-	ENSG00000151388		0.577	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	143	0.69	1	A	NM_030955		33881193	33881193	-1	no_errors	ENST00000509762	ensembl	human	known	69_37n	rna	142	19.32	34	SNP	0.000	G
ADAMTS5	11096	genome.wustl.edu	37	21	28315781	28315781	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:28315781G>T	ENST00000284987.5	-	3	1444	c.1323C>A	c.(1321-1323)tcC>tcA	p.S441S		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	441	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTAAGGATGGAAGACATTA	0.453																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													124.0	105.0	112.0					21																	28315781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1323C>A	21.37:g.28315781G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV4|Q9UKP2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.S441	ENST00000284987.5	37	c.1323	CCDS13579.1	21																																																																																			ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154736		0.453	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	41	0.00	0	G			28315781	28315781	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	silent	39	30.36	17	SNP	1.000	T
ADARB1	104	genome.wustl.edu	37	21	46554673	46554673	+	Intron	SNP	G	G	A	rs367651244		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:46554673G>A	ENST00000539173.1	+	2	388				ADARB1_ENST00000460734.1_3'UTR|ADARB1_ENST00000348831.4_Intron|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1						adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TTCATCCAGCGAGCATTGAGG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		15915	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													51.0	56.0	54.0					21																	46554673		1973	4143	6116	-	-	-	SO:0001627	intron_variant	0			U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000539173.1:c.-48+6185G>A	21.37:g.46554673G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	RNA	SNP	-	NULL	ENST00000539173.1	37	NULL	CCDS33589.1	21																																																																																			ADARB1	-	-	ENSG00000197381		0.473	ADARB1-202	KNOWN	basic|CCDS	protein_coding	ADARB1	HGNC	protein_coding		13	0.00	0	G	NM_015833		46554673	46554673	+1	no_errors	ENST00000460734	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.001	A
ADCY4	196883	genome.wustl.edu	37	14	24799203	24799203	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:24799203G>A	ENST00000310677.4	-	9	1193	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	ADCY4_ENST00000396747.3_Silent_p.G53G|ADCY4_ENST00000554068.2_Silent_p.G360G|ADCY4_ENST00000418030.2_Silent_p.G360G|ADCY4_ENST00000558563.1_5'Flank	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	360					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGTCCACGCCAGTGGCTG	0.572																																						dbGAP											0													111.0	85.0	94.0					14																	24799203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1080C>T	14.37:g.24799203G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A371V	ENST00000310677.4	37	c.1112	CCDS9627.1	14																																																																																			ADCY4	-	NULL	ENSG00000129467		0.572	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	73	0.00	0	G			24799203	24799203	-1	no_errors	ENST00000554781	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	0.483	A
ADCY9	115	genome.wustl.edu	37	16	4042211	4042211	+	Silent	SNP	G	G	A	rs201116391		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:4042211G>A	ENST00000294016.3	-	5	2681	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	715					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGAACCTCAGCGGAAGGAGA	0.542																																						dbGAP											0													103.0	92.0	96.0					16																	4042211		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2143C>T	16.37:g.4042211G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L715	ENST00000294016.3	37	c.2143	CCDS32382.1	16																																																																																			ADCY9	-	NULL	ENSG00000162104		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	86	0.00	0	G			4042211	4042211	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	silent	53	15.87	10	SNP	0.910	A
ADRA1B	147	genome.wustl.edu	37	5	159344245	159344245	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:159344245G>T	ENST00000306675.3	+	1	456	c.333G>T	c.(331-333)tgG>tgT	p.W111C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	111					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TCGGCTACTGGGTGCTGGGGC	0.607																																						dbGAP											0													89.0	82.0	84.0					5																	159344245		2203	4300	6503	-	-	-	SO:0001583	missense	0			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.333G>T	5.37:g.159344245G>T	ENSP00000306662:p.Trp111Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPE1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.W111C	ENST00000306675.3	37	c.333	CCDS4347.1	5	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488168	0.64074	.	.	ENSG00000170214	ENST00000306675	T	0.77877	-1.13	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91991	0.7463	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94379	0.7603	10	0.87932	D	0	.	17.3924	0.87436	0.0:0.0:1.0:0.0	.	111	P35368	ADA1B_HUMAN	C	111	ENSP00000306662:W111C	ENSP00000306662:W111C	W	+	3	0	ADRA1B	159276823	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.536000	0.85505	0.462000	0.41574	TGG	ADRA1B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrnrgc_rcpt	ENSG00000170214		0.607	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1B	HGNC	protein_coding	OTTHUMT00000252676.1	70	0.00	0	G			159344245	159344245	+1	no_errors	ENST00000306675	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
AEN	64782	genome.wustl.edu	37	15	89169793	89169793	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:89169793T>C	ENST00000332810.3	+	2	504	c.353T>C	c.(352-354)gTg>gCg	p.V118A	AEN_ENST00000379231.3_Missense_Mutation_p.V118A	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	118	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGTGAGATGGTGGGCACGGGA	0.612																																						dbGAP											0													96.0	100.0	99.0					15																	89169793		2200	4299	6499	-	-	-	SO:0001583	missense	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.353T>C	15.37:g.89169793T>C	ENSP00000331944:p.Val118Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V118A	ENST00000332810.3	37	c.353	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794847	0.70452	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.23348	1.91;1.91	5.15	5.15	0.70609	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.103868	0.40908	D	0.000996	T	0.57695	0.2071	M	0.89840	3.065	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.74023	0.969;0.982	T	0.67829	-0.5569	10	0.87932	D	0	-22.5675	14.162	0.65452	0.0:0.0:0.0:1.0	.	118;118	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	A	118	ENSP00000331944:V118A;ENSP00000368533:V118A	ENSP00000331944:V118A	V	+	2	0	AEN	86970797	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	7.726000	0.84824	1.932000	0.55993	0.533000	0.62120	GTG	AEN	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000181026		0.612	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1	39	0.00	0	T	NM_022767		89169793	89169793	+1	no_errors	ENST00000379231	ensembl	human	known	69_37n	missense	10	35.29	6	SNP	1.000	C
AFP	174	genome.wustl.edu	37	4	74313371	74313372	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:74313371_74313372insA	ENST00000395792.2	+	8	1136_1137	c.1036_1037insA	c.(1036-1038)gaafs	p.E346fs	AFP_ENST00000226359.2_Frame_Shift_Ins_p.E346fs	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	346	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCAGGGGAAAAAAATATC	0.337									Alpha-Fetoprotein, Hereditary Persistence of																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPAFP	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1043dupA	4.37:g.74313378_74313378dupA	ENSP00000379138:p.Glu346fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU3	Frame_Shift_Ins	INS	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin	p.N348fs	ENST00000395792.2	37	c.1036_1037	CCDS3556.1	4																																																																																			AFP	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein	ENSG00000081051		0.337	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFP	HGNC	protein_coding	OTTHUMT00000252284.3	71	0.00	0	-			74313371	74313372	+1	no_errors	ENST00000395792	ensembl	human	known	69_37n	frame_shift_ins	80	12.09	11	INS	0.903:0.959	A
AGAP6	414189	genome.wustl.edu	37	10	51769654	51769654	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:51769654A>T	ENST00000374056.4	+	7	2098	c.1700A>T	c.(1699-1701)cAg>cTg	p.Q567L	AGAP6_ENST00000412531.3_Missense_Mutation_p.Q590L			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	567					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CTGGGCCAGCAGCTGCTGCGG	0.607																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1700A>T	10.37:g.51769654A>T	ENSP00000363168:p.Gln567Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.Q590L	ENST00000374056.4	37	c.1769		10	.	.	.	.	.	.	.	.	.	.	.	5.153	0.213904	0.09810	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	-0.093	0.13652	.	0.181090	0.50627	D	0.000113	T	0.41673	0.1169	L	0.42245	1.32	0.41440	D	0.987915	B	0.02656	0.0	B	0.12156	0.007	T	0.09640	-1.0665	9	0.41790	T	0.15	.	3.8601	0.08991	0.6731:0.0:0.3269:0.0	.	590	C9IYN2	.	L	590;567	.	ENSP00000363168:Q590L	Q	+	2	0	AGAP6	51439660	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	4.483000	0.60264	-1.569000	0.01668	-1.601000	0.00813	CAG	AGAP6	-	NULL	ENSG00000204149		0.607	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		79	0.00	0	A	NM_001077665		51769654	51769654	+1	no_errors	ENST00000374056	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	1.000	T
AGGF1	55109	genome.wustl.edu	37	5	76358967	76358967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:76358967delA	ENST00000312916.7	+	14	2417	c.2035delA	c.(2035-2037)aaafs	p.K680fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	680					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAACAAGAACAAAAAAAACTG	0.468																																						dbGAP											0													149.0	161.0	157.0					5																	76358967		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.2035delA	5.37:g.76358967delA	ENSP00000316109:p.Lys680fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00581|Q53YS3|Q9BU84|Q9NW66	Frame_Shift_Del	DEL	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.N681fs	ENST00000312916.7	37	c.2035	CCDS4035.1	5																																																																																			AGGF1	-	NULL	ENSG00000164252		0.468	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	207	0.00	0	A	NM_018046		76358967	76358967	+1	no_errors	ENST00000312916	ensembl	human	known	69_37n	frame_shift_del	116	41.43	87	DEL	1.000	-
AGMO	392636	genome.wustl.edu	37	7	15425184	15425184	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:15425184T>C	ENST00000342526.3	-	10	1130	c.961A>G	c.(961-963)Acc>Gcc	p.T321A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	321					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCTTTGCCGGTGACCTAGGGA	0.353																																						dbGAP											0													92.0	89.0	90.0					7																	15425184		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.961A>G	7.37:g.15425184T>C	ENSP00000341662:p.Thr321Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D114|A6NCH5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.T321A	ENST00000342526.3	37	c.961	CCDS34604.1	7	.	.	.	.	.	.	.	.	.	.	T	7.394	0.631372	0.14322	.	.	ENSG00000187546	ENST00000342526	T	0.30714	1.52	5.47	3.05	0.35203	.	0.112785	0.64402	D	0.000014	T	0.27900	0.0687	M	0.68317	2.08	0.42198	D	0.991758	B	0.16396	0.017	B	0.21360	0.034	T	0.07195	-1.0785	10	0.15499	T	0.54	-1.9166	8.2564	0.31758	0.0:0.0694:0.1339:0.7966	.	321	Q6ZNB7	ALKMO_HUMAN	A	321	ENSP00000341662:T321A	ENSP00000341662:T321A	T	-	1	0	AGMO	15391709	1.000000	0.71417	0.038000	0.18304	0.605000	0.37080	2.255000	0.43222	0.367000	0.24454	0.533000	0.62120	ACC	AGMO	-	NULL	ENSG00000187546		0.353	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	92	0.00	0	T	NM_001004320		15425184	15425184	-1	no_errors	ENST00000342526	ensembl	human	known	69_37n	missense	87	13.00	13	SNP	0.919	C
AHCYL1	10768	genome.wustl.edu	37	1	110561664	110561664	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:110561664C>T	ENST00000369799.5	+	14	1684				AHCYL1_ENST00000393614.4_Intron|AHCYL1_ENST00000359172.3_Intron	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1						mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTCTCTCTTACCTTTCCAGGG	0.498																																						dbGAP											0													133.0	118.0	123.0					1																	110561664		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1318-9C>T	1.37:g.110561664C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	RNA	SNP	-	NULL	ENST00000369799.5	37	NULL	CCDS818.1	1																																																																																			AHCYL1	-	-	ENSG00000168710		0.498	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1	135	0.00	0	C			110561664	110561664	+1	no_errors	ENST00000469401	ensembl	human	known	69_37n	rna	64	25.58	22	SNP	0.000	T
AHI1	54806	genome.wustl.edu	37	6	135776913	135776913	+	Nonsense_Mutation	SNP	G	G	A	rs121434349		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:135776913G>A	ENST00000367800.4	-	8	1519	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.R435*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.R435*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	435					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGAGCCTCGAAGCAAATAG	0.328																																						dbGAP											0			GRCh37	CM042285	AHI1	M	rs121434349						40.0	38.0	39.0					6																	135776913		1805	4070	5875	-	-	-	SO:0001587	stop_gained	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1303C>T	6.37:g.135776913G>A	ENSP00000356774:p.Arg435*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.R435*	ENST00000367800.4	37	c.1303	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.290986	0.98745	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.	.	.	5.47	4.57	0.56435	.	0.130014	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5923	15.2351	0.73422	0.0:0.0:0.8583:0.1416	.	.	.	.	X	435	.	ENSP00000265602:R435X	R	-	1	2	AHI1	135818606	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.349000	0.59385	1.246000	0.43901	0.467000	0.42956	CGA	AHI1	-	NULL	ENSG00000135541		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	16	0.00	0	G	NM_017651		135776913	135776913	-1	no_errors	ENST00000265602	ensembl	human	known	69_37n	nonsense	16	23.81	5	SNP	1.000	A
ALAS1	211	genome.wustl.edu	37	3	52248109	52248109	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:52248109C>T	ENST00000394965.2	+	12	2196	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	ALAS1_ENST00000484952.1_Silent_p.C612C|ALAS1_ENST00000310271.2_Silent_p.C612C|ALAS1_ENST00000469224.1_Silent_p.C612C	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	612					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GCAACTTCTGCAGGAGGCCAC	0.458																																						dbGAP											0													102.0	93.0	96.0					3																	52248109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1836C>T	3.37:g.52248109C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A209V	ENST00000394965.2	37	c.626	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134869	0.21123	.	.	ENSG00000023330	ENST00000493402	.	.	.	5.14	4.25	0.50352	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59354	-0.7470	4	.	.	.	-24.1131	11.2723	0.49147	0.0:0.8195:0.0:0.1805	.	.	.	.	V	209	.	.	A	+	2	0	ALAS1	52223149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.544000	0.36158	2.379000	0.81126	0.655000	0.94253	GCA	ALAS1	-	NULL	ENSG00000023330		0.458	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	154	0.00	0	C			52248109	52248109	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000493402	ensembl	human	novel	69_37n	missense	46	47.73	42	SNP	1.000	T
ALDH1L1	10840	genome.wustl.edu	37	3	125876306	125876306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:125876306C>T	ENST00000393434.2	-	4	757	c.408G>A	c.(406-408)tgG>tgA	p.W136*	U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.W136*|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.W146*|ALDH1L1_ENST00000393431.2_Nonsense_Mutation_p.W136*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	136	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CATCATCCGCCCAGAAGATGG	0.572																																						dbGAP											0													101.0	101.0	101.0					3																	125876306		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.408G>A	3.37:g.125876306C>T	ENSP00000377083:p.Trp136*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.W136*	ENST00000393434.2	37	c.408	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.082902	0.94050	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4889	0.67637	0.0:1.0:0.0:0.0	.	.	.	.	X	146;136;136;136;136;136;136	.	ENSP00000273450:W146X	W	-	3	0	ALDH1L1	127358996	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.399000	0.79935	2.277000	0.76020	0.467000	0.42956	TGG	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000144908		0.572	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	82	0.00	0	C	NM_012190		125876306	125876306	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	nonsense	70	18.60	16	SNP	1.000	T
ALDH1L2	160428	genome.wustl.edu	37	12	105420412	105420412	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:105420412G>A	ENST00000258494.9	-	22	2767	c.2627C>T	c.(2626-2628)gCa>gTa	p.A876V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	876	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACAGTTCCTGCTTCCAGTTT	0.418																																						dbGAP											0													164.0	159.0	161.0					12																	105420412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2627C>T	12.37:g.105420412G>A	ENSP00000258494:p.Ala876Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.A876V	ENST00000258494.9	37	c.2627	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.300993	0.95601	.	.	ENSG00000136010	ENST00000258494	T	0.78003	-1.14	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89429	0.3715	10	0.72032	D	0.01	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	876	Q3SY69	AL1L2_HUMAN	V	876	ENSP00000258494:A876V	ENSP00000258494:A876V	A	-	2	0	ALDH1L2	103944542	1.000000	0.71417	0.470000	0.27216	0.982000	0.71751	9.848000	0.99507	2.391000	0.81399	0.557000	0.71058	GCA	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.418	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	479	0.00	0	G	XM_090294		105420412	105420412	-1	no_errors	ENST00000258494	ensembl	human	known	69_37n	missense	351	19.31	84	SNP	1.000	A
ALDH3B1	221	genome.wustl.edu	37	11	67787216	67787216	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:67787216G>A	ENST00000539229.1	+	7	626	c.510G>A	c.(508-510)caG>caA	p.Q170Q	ALDH3B1_ENST00000342456.6_Silent_p.Q134Q|ALDH3B1_ENST00000007633.8_Silent_p.Q170Q|ALDH3B1_ENST00000316367.6_Silent_p.Q170Q|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	171					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GCGGGCCCCAGGAGACGGGGC	0.667																																						dbGAP											0													86.0	100.0	95.0					11																	67787216		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.510G>A	11.37:g.67787216G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3FMP9|Q53XL5|Q8N515|Q96CK8	RNA	SNP	-	NULL	ENST00000539229.1	37	NULL		11																																																																																			ALDH3B1	-	-	ENSG00000006534		0.667	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		53	0.00	0	G	NM_000694		67787216	67787216	+1	no_errors	ENST00000007633	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.481	A
ALDH5A1	7915	genome.wustl.edu	37	6	24532384	24532384	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:24532384G>A	ENST00000357578.3	+	9	1526	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.A474T|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.A433T|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.A373T	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	461					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AATCGCTAACGCAGCTGATGT	0.418																																						dbGAP											0													195.0	167.0	176.0					6																	24532384		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1381G>A	6.37:g.24532384G>A	ENSP00000350191:p.Ala461Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.A474T	ENST00000357578.3	37	c.1420	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950817	0.53186	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.09	4.18	0.49190	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.121964	0.53938	D	0.000042	T	0.80444	0.4624	M	0.62088	1.915	0.45066	D	0.998085	P;P	0.45240	0.77;0.854	B;B	0.22386	0.039;0.033	D	0.85649	0.1281	10	0.72032	D	0.01	.	12.936	0.58313	0.0:0.0:0.6331:0.3669	.	461;474	P51649;G5E949	SSDH_HUMAN;.	T	461;373;433;474	ENSP00000350191:A461T;ENSP00000438193:A373T;ENSP00000417687:A433T;ENSP00000314649:A474T	ENSP00000314649:A474T	A	+	1	0	ALDH5A1	24640363	0.978000	0.34361	0.115000	0.21578	0.035000	0.12851	2.110000	0.41873	2.635000	0.89317	0.563000	0.77884	GCA	ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	ENSG00000112294		0.418	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2	50	0.00	0	G			24532384	24532384	+1	no_errors	ENST00000348925	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	0.988	A
ALDOC	230	genome.wustl.edu	37	17	26902486	26902486	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:26902486C>T	ENST00000226253.4	-	2	540	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	ALDOC_ENST00000395321.2_Missense_Mutation_p.R22Q|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.R22Q	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	22					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGCTACAATCCGCAGGGCAAT	0.557											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													99.0	86.0	90.0					17																	26902486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.65G>A	17.37:g.26902486C>T	ENSP00000226253:p.Arg22Gln	Somatic	790	WXS	Illumina GAIIx	Phase_IV	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.R22Q	ENST00000226253.4	37	c.65	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131947	0.37630	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	6.07	4.05	0.47172	Aldolase-type TIM barrel (1);	0.160069	0.50627	N	0.000111	D	0.84142	0.5407	L	0.39514	1.22	0.49051	D	0.999744	D;B	0.56521	0.976;0.074	P;B	0.57371	0.819;0.019	T	0.79310	-0.1856	10	0.21540	T	0.41	.	8.9018	0.35499	0.0:0.7704:0.0:0.2296	.	22;22	A8MVZ9;P09972	.;ALDOC_HUMAN	Q	22	ENSP00000378729:R22Q;ENSP00000226253:R22Q;ENSP00000378731:R22Q;ENSP00000398976:R22Q	ENSP00000226253:R22Q	R	-	2	0	ALDOC	23926613	1.000000	0.71417	0.983000	0.44433	0.881000	0.50899	3.359000	0.52292	0.850000	0.35239	0.655000	0.94253	CGG	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.557	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	67	0.00	0	C			26902486	26902486	-1	no_errors	ENST00000226253	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	1.000	T
ALG5	29880	genome.wustl.edu	37	13	37539835	37539835	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:37539835T>C	ENST00000239891.3	-	8	716	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	ALG5_ENST00000443765.1_Missense_Mutation_p.Y187C|ALG5_ENST00000413537.2_3'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	217					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGGAACCCATACATGAGAAG	0.413																																						dbGAP											0													100.0	98.0	99.0					13																	37539835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.650A>G	13.37:g.37539835T>C	ENSP00000239891:p.Tyr217Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR37|Q5TBA6	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.Y217C	ENST00000239891.3	37	c.650	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206035	0.79127	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	T;T	0.59502	0.26;0.26	5.82	5.82	0.92795	.	0.051798	0.85682	D	0.000000	T	0.78780	0.4337	M	0.88031	2.925	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.64506	0.879;0.926	T	0.82174	-0.0588	10	0.52906	T	0.07	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	187;217	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	C	187;217	ENSP00000390533:Y187C;ENSP00000239891:Y217C	ENSP00000239891:Y217C	Y	-	2	0	ALG5	36437835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.081000	0.71309	2.225000	0.72522	0.459000	0.35465	TAT	ALG5	-	NULL	ENSG00000120697		0.413	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2	241	0.00	0	T	NM_013338		37539835	37539835	-1	no_errors	ENST00000239891	ensembl	human	known	69_37n	missense	246	20.65	64	SNP	1.000	C
ALK	238	genome.wustl.edu	37	2	29462561	29462561	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:29462561C>A	ENST00000389048.3	-	13	3246	c.2340G>T	c.(2338-2340)gaG>gaT	p.E780D	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	780					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGCAGGCGTCCTCTCCCTGCT	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													89.0	79.0	82.0					2																	29462561		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2340G>T	2.37:g.29462561C>A	ENSP00000373700:p.Glu780Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E780D	ENST00000389048.3	37	c.2340	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899290	0.72754	.	.	ENSG00000171094	ENST00000389048	T	0.45668	0.89	5.16	-1.16	0.09678	.	0.130967	0.33834	N	0.004509	T	0.54679	0.1873	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.51764	-0.8664	9	.	.	.	.	9.6774	0.40050	0.0:0.3964:0.0:0.6036	.	780	Q9UM73	ALK_HUMAN	D	780	ENSP00000373700:E780D	.	E	-	3	2	ALK	29316065	0.873000	0.30073	0.991000	0.47740	0.972000	0.66771	-0.026000	0.12392	-0.116000	0.11893	0.561000	0.74099	GAG	ALK	-	NULL	ENSG00000171094		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	56	0.00	0	C	NM_004304		29462561	29462561	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	0.983	A
ALOX15B	247	genome.wustl.edu	37	17	7951114	7951114	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:7951114C>T	ENST00000380183.4	+	13	1871	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	ALOX15B_ENST00000572022.1_Missense_Mutation_p.P566S|ALOX15B_ENST00000380173.2_Missense_Mutation_p.P549S|ALOX15B_ENST00000573359.1_Missense_Mutation_p.P504S	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	578	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCTGCCACCACCCACCTC	0.592																																						dbGAP											0													80.0	71.0	74.0					17																	7951114		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1732C>T	17.37:g.7951114C>T	ENSP00000369530:p.Pro578Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.P578S	ENST00000380183.4	37	c.1732	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605657	0.87157	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.90900	-2.75;-2.75	4.09	4.09	0.47781	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.90977	3.165	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.994;0.999	D;D;D;D	0.70016	0.927;0.945;0.909;0.967	D	0.96835	0.9614	10	0.72032	D	0.01	-14.9624	15.5894	0.76512	0.0:1.0:0.0:0.0	.	566;504;549;578	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	S	549;504;578	ENSP00000369520:P549S;ENSP00000369530:P578S	ENSP00000344337:P504S	P	+	1	0	ALOX15B	7891839	0.992000	0.36948	0.995000	0.50966	0.972000	0.66771	4.240000	0.58701	2.279000	0.76181	0.561000	0.74099	CCA	ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179593		0.592	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	60	0.00	0	C			7951114	7951114	+1	no_errors	ENST00000380183	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61834861	61834863	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:61834861_61834863delCTC	ENST00000280772.2	-	37	5967_5969	c.5776_5778delGAG	c.(5776-5778)gagdel	p.E1926del	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1926					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAATGGCTTCTCCTCAGGCACA	0.404																																						dbGAP											0									,,,	3,4261		0,3,2129					,,,	5.8	1.0			97	11,8243		0,11,4116	no	coding,intron,intron,intron	ANK3	NM_020987.3,NM_001204404.1,NM_001204403.1,NM_001149.3	,,,	0,14,6245	A1A1,A1R,RR		0.1333,0.0704,0.1118	,,,	,,,		14,12504				-	-	-	SO:0001651	inframe_deletion	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5776_5778delGAG	10.37:g.61834864_61834866delCTC	ENSP00000280772:p.Glu1926del	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E1926in_frame_del	ENST00000280772.2	37	c.5778_5776	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.404	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	146	0.00	0	CTC	NM_020987		61834861	61834863	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	in_frame_del	75	40.94	52	DEL	1.000:1.000:1.000	-
ANKLE2	23141	genome.wustl.edu	37	12	133306759	133306759	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:133306759C>T	ENST00000357997.5	-	11	2078	c.1989G>A	c.(1987-1989)ccG>ccA	p.P663P	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Silent_p.P18P|ANKLE2_ENST00000542657.1_Silent_p.P18P|ANKLE2_ENST00000539605.1_Silent_p.P601P	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	663					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CGACTGTGGGCGGGCTGTTAT	0.537																																						dbGAP											0													49.0	53.0	51.0					12																	133306759		1906	4120	6026	-	-	-	SO:0001819	synonymous_variant	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1989G>A	12.37:g.133306759C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.P663	ENST00000357997.5	37	c.1989	CCDS41869.1	12																																																																																			ANKLE2	-	NULL	ENSG00000176915		0.537	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	13	0.00	0	C			133306759	133306759	-1	no_errors	ENST00000357997	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	0.000	T
ANKRD11	29123	genome.wustl.edu	37	16	89351379	89351379	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:89351379G>A	ENST00000301030.4	-	9	2031	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S524L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	524	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCGTGAGACGAGGTGGAGGA	0.622																																						dbGAP											0													41.0	47.0	45.0					16																	89351379		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1571C>T	16.37:g.89351379G>A	ENSP00000301030:p.Ser524Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S524L	ENST00000301030.4	37	c.1571	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951804	0.53186	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.48522	0.81;0.81	5.71	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.66602	0.818;0.945	T	0.67768	-0.5585	10	0.48119	T	0.1	.	14.6754	0.68975	0.0696:0.0:0.9304:0.0	.	143;524	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	L	524;524;143	ENSP00000301030:S524L;ENSP00000367581:S524L	ENSP00000301030:S524L	S	-	2	0	ANKRD11	87878880	1.000000	0.71417	0.813000	0.32504	0.042000	0.13812	9.539000	0.98076	1.424000	0.47217	0.561000	0.74099	TCG	ANKRD11	-	NULL	ENSG00000167522		0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	41	0.00	0	G	NM_013275		89351379	89351379	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	9	28.57	4	SNP	1.000	A
ANKRD12	23253	genome.wustl.edu	37	18	9256207	9256207	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:9256207delA	ENST00000262126.4	+	9	3182	c.2942delA	c.(2941-2943)gaafs	p.E981fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.E958fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.E958fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	981						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATACAGGAAGAAAAAAAATCA	0.299																																						dbGAP											0													35.0	41.0	39.0					18																	9256207		2166	4248	6414	-	-	-	SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2942delA	18.37:g.9256207delA	ENSP00000262126:p.Glu981fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K983fs	ENST00000262126.4	37	c.2942	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	268	0.37	1	A	NM_015208		9256207	9256207	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	frame_shift_del	219	17.15	47	DEL	1.000	-
ANKRD17	26057	genome.wustl.edu	37	4	74005556	74005556	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:74005556T>C	ENST00000358602.4	-	15	2893	c.2777A>G	c.(2776-2778)tAt>tGt	p.Y926C	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Missense_Mutation_p.Y813C|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	926	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAACCGTGCATAGTCTCCCTC	0.498																																						dbGAP											0													124.0	116.0	119.0					4																	74005556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2777A>G	4.37:g.74005556T>C	ENSP00000351416:p.Tyr926Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Y926C	ENST00000358602.4	37	c.2777	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	T	7.177	0.588746	0.13812	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.66099	-0.19;-0.17	5.65	4.47	0.54385	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000017	T	0.49592	0.1566	N	0.03608	-0.345	0.80722	D	1	D;B;B;B	0.57571	0.98;0.005;0.003;0.011	P;B;B;B	0.55785	0.784;0.006;0.003;0.002	T	0.54938	-0.8218	10	0.38643	T	0.18	.	11.3236	0.49436	0.0:0.0709:0.0:0.929	.	447;926;926;813	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	C	926;926;813;926	ENSP00000351416:Y926C;ENSP00000427151:Y813C	ENSP00000351416:Y926C	Y	-	2	0	ANKRD17	74224420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.667000	0.46808	2.279000	0.76181	0.533000	0.62120	TAT	ANKRD17	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000132466		0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	206	0.00	0	T	NM_032217		74005556	74005556	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	202	13.30	31	SNP	1.000	C
ANKRD26	22852	genome.wustl.edu	37	10	27355175	27355175	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:27355175delT	ENST00000376087.4	-	11	1435				ANKRD26_ENST00000436985.2_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTCTTTTCTTTTTTTTTTT	0.333																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1269+240A>-	10.37:g.27355175delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	RNA	DEL	-	NULL	ENST00000376087.4	37	NULL	CCDS41499.1	10																																																																																			ANKRD26	-	-	ENSG00000107890		0.333	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	8	0.00	0	T			27355175	27355175	-1	no_errors	ENST00000473304	ensembl	human	known	69_37n	rna	10	21.43	3	DEL	0.001	-
ANKS6	203286	genome.wustl.edu	37	9	101518763	101518763	+	Silent	SNP	C	C	T	rs566372073		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:101518763C>T	ENST00000353234.4	-	12	2312	c.2265G>A	c.(2263-2265)tcG>tcA	p.S755S	ANKS6_ENST00000375018.1_Silent_p.S756S|ANKS6_ENST00000540940.1_Silent_p.S560S|ANKS6_ENST00000375019.2_Silent_p.S454S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	755	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GATGGGATGACGAGGAAGACA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17060	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													103.0	104.0	104.0					9																	101518763		2051	4202	6253	-	-	-	SO:0001819	synonymous_variant	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2265G>A	9.37:g.101518763C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V225I	ENST00000353234.4	37	c.673	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333669	0.24167	.	.	ENSG00000165138	ENST00000444472	.	.	.	5.27	-0.0179	0.13966	.	.	.	.	.	T	0.50154	0.1599	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35871	-0.9771	4	.	.	.	-22.4921	4.6229	0.12463	0.3286:0.2875:0.3839:0.0	.	.	.	.	I	225	.	.	V	-	1	0	ANKS6	100558584	0.980000	0.34600	0.967000	0.41034	0.977000	0.68977	0.012000	0.13287	0.002000	0.14630	-0.359000	0.07587	GTC	ANKS6	-	NULL	ENSG00000165138		0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	93	0.00	0	C	NM_173551		101518763	101518763	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444472	ensembl	human	putative	69_37n	missense	65	30.85	29	SNP	0.995	T
ANKS6	203286	genome.wustl.edu	37	9	101546393	101546393	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:101546393G>A	ENST00000353234.4	-	4	1001	c.954C>T	c.(952-954)caC>caT	p.H318H	ANKS6_ENST00000375018.1_Silent_p.H318H|ANKS6_ENST00000540940.1_Silent_p.H123H|ANKS6_ENST00000375019.2_Silent_p.H17H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	318						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAAGTTCACGTGGCTGGGGT	0.597																																						dbGAP											0													67.0	71.0	70.0					9																	101546393		2105	4222	6327	-	-	-	SO:0001819	synonymous_variant	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.954C>T	9.37:g.101546393G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.H318	ENST00000353234.4	37	c.954	CCDS43856.1	9																																																																																			ANKS6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	68	0.00	0	G	NM_173551		101546393	101546393	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	silent	28	41.67	20	SNP	0.678	A
ANO10	55129	genome.wustl.edu	37	3	43618203	43618203	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:43618203G>A	ENST00000292246.3	-	6	1313	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	ANO10_ENST00000396091.3_Silent_p.A315A|ANO10_ENST00000414522.2_Silent_p.A381A|ANO10_ENST00000451430.2_Silent_p.A270A|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	381					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTAAAAACTCGGCAGCATATC	0.443																																						dbGAP											0													56.0	52.0	53.0					3																	43618203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1143C>T	3.37:g.43618203G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	pfam_Anoctamin	p.A381	ENST00000292246.3	37	c.1143	CCDS2710.2	3																																																																																			ANO10	-	pfam_Anoctamin	ENSG00000160746		0.443	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	104	0.00	0	G	NM_018075		43618203	43618203	-1	no_errors	ENST00000292246	ensembl	human	known	69_37n	silent	57	10.94	7	SNP	0.001	A
ANP32B	10541	genome.wustl.edu	37	9	100773651	100773651	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100773651G>A	ENST00000339399.4	+	5	811	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	206	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				ggatgaggacgacgatgaagT	0.428																																						dbGAP											0													191.0	162.0	172.0					9																	100773651		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.616G>A	9.37:g.100773651G>A	ENSP00000345848:p.Asp206Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.D206N	ENST00000339399.4	37	c.616	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012119	0.19277	.	.	ENSG00000136938	ENST00000447173;ENST00000339399	T	0.00337	8.05	4.22	4.22	0.49857	.	0.198418	0.52532	D	0.000078	T	0.00210	0.0006	L	0.34521	1.04	0.36177	D	0.84915	B	0.25105	0.118	B	0.14578	0.011	T	0.73260	-0.4039	10	0.28530	T	0.3	-7.1243	12.3708	0.55254	0.0:0.0:1.0:0.0	.	206	Q92688	AN32B_HUMAN	N	125;206	ENSP00000345848:D206N	ENSP00000345848:D206N	D	+	1	0	ANP32B	99813472	1.000000	0.71417	0.999000	0.59377	0.031000	0.12232	3.988000	0.56951	2.633000	0.89246	0.557000	0.71058	GAC	ANP32B	-	NULL	ENSG00000136938		0.428	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4	30	0.00	0	G	NM_006401		100773651	100773651	+1	no_errors	ENST00000339399	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	A
ANXA2R	389289	genome.wustl.edu	37	5	43039621	43039621	+	Silent	SNP	C	C	T	rs113667557		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:43039621C>T	ENST00000314890.3	-	2	1947	c.528G>A	c.(526-528)gcG>gcA	p.A176A	AC025171.1_ENST00000505541.1_RNA|AC025171.1_ENST00000451894.2_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	176																	GTACAGAGAACGCGGCAAAAC	0.562											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	85.0	85.0					5																	43039621		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.528G>A	5.37:g.43039621C>T		Somatic	913	WXS	Illumina GAIIx	Phase_IV	Q8NHX5	Silent	SNP	NULL	p.A176	ENST00000314890.3	37	c.528	CCDS34153.1	5																																																																																			ANXA2R	-	NULL	ENSG00000177721		0.562	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA2R	HGNC	protein_coding	OTTHUMT00000368030.1	113	0.00	0	C	NM_001014279		43039621	43039621	-1	no_errors	ENST00000314890	ensembl	human	known	69_37n	silent	118	11.94	16	SNP	0.000	T
ANXA7	310	genome.wustl.edu	37	10	75147509	75147509	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75147509C>T	ENST00000372921.5	-	7	627	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Missense_Mutation_p.A61T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	213					autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GAACGGTTGGCCACCACATCC	0.448																																						dbGAP											0													212.0	197.0	202.0					10																	75147509		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.571G>A	10.37:g.75147509C>T	ENSP00000362012:p.Ala191Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVII,prints_AnnexinIV	p.A213T	ENST00000372921.5	37	c.637	CCDS7325.1	10	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647390	0.47258	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000535178	T;T;T	0.03413	3.94;3.94;3.94	5.96	-0.0124	0.13989	Annexin repeat, conserved site (1);	0.471547	0.20842	N	0.084693	T	0.03477	0.0100	L	0.28694	0.88	0.31605	N	0.652197	B;P;B;B;B	0.34892	0.23;0.474;0.083;0.193;0.359	B;B;B;B;B	0.38458	0.274;0.128;0.091;0.078;0.128	T	0.20605	-1.0270	10	0.07175	T	0.84	.	15.691	0.77453	0.6684:0.3316:0.0:0.0	.	191;191;118;191;213	Q53HM8;B2R7L2;B4DWU2;P20073-2;P20073	.;.;.;.;ANXA7_HUMAN	T	191;213;61	ENSP00000362012:A191T;ENSP00000362010:A213T;ENSP00000442864:A61T	ENSP00000362010:A213T	A	-	1	0	ANXA7	74817515	0.022000	0.18835	0.966000	0.40874	0.997000	0.91878	0.116000	0.15561	-0.006000	0.14370	0.650000	0.86243	GCC	ANXA7	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV	ENSG00000138279		0.448	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2	337	0.00	0	C	NM_001156		75147509	75147509	-1	no_errors	ENST00000372919	ensembl	human	known	69_37n	missense	254	14.48	43	SNP	0.968	T
AP3B1	8546	genome.wustl.edu	37	5	77334907	77334907	+	Frame_Shift_Del	DEL	T	T	-	rs201179527	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:77334907delT	ENST00000255194.6	-	23	2944	c.2769delA	c.(2767-2769)aaafs	p.K923fs	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	923					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K923fs*4(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTATAGGAAGTTTTTTTTCCC	0.289									Hermansky-Pudlak syndrome																													dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											103.0	98.0	100.0					5																	77334907		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2769delA	5.37:g.77334907delT	ENSP00000255194:p.Lys923fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.K923fs	ENST00000255194.6	37	c.2769	CCDS4041.1	5																																																																																			AP3B1	-	pirsf_AP3_complex_bsu	ENSG00000132842		0.289	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	146	0.00	0	T			77334907	77334907	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	frame_shift_del	80	39.42	54	DEL	0.419	-
AP4B1	10717	genome.wustl.edu	37	1	114440240	114440240	+	Intron	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:114440240A>G	ENST00000369569.1	-	7	1583				AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAACTGTTCAAGAGAACAAT	0.413																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1302+221T>C	1.37:g.114440240A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-	ENSG00000134262		0.413	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	21	0.00	0	A	NM_006594		114440240	114440240	-1	no_errors	ENST00000462591	ensembl	human	known	69_37n	rna	4	63.64	7	SNP	0.004	G
APBB1	322	genome.wustl.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:6432092C>A	ENST00000609360.1	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D|APBB1_ENST00000389906.2_Missense_Mutation_p.E162D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcctcctcctcct	0.637																																					GBM(147;1810 2556 5672 39622)	dbGAP											1	Substitution - Missense(1)	prostate(1)											35.0	35.0	35.0					11																	6432092		2201	4296	6497	-	-	-	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486G>T	11.37:g.6432092C>A	ENSP00000477213:p.Glu162Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.E162D	ENST00000609360.1	37	c.486		11	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899741	0.02472	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14893	2.47;2.47;2.47	4.85	-4.93	0.03066	.	0.650451	0.13993	N	0.348689	T	0.05318	0.0141	N	0.08118	0	0.27333	N	0.956714	B	0.10296	0.003	B	0.10450	0.005	T	0.38134	-0.9675	10	0.12766	T	0.61	-7.4359	4.4462	0.11598	0.2593:0.2348:0.0:0.5059	.	162	O00213-2	.	D	162	ENSP00000299402:E162D;ENSP00000311912:E162D;ENSP00000374556:E162D	ENSP00000299402:E162D	E	-	3	2	APBB1	6388668	0.040000	0.19996	0.894000	0.35097	0.055000	0.15305	-0.394000	0.07296	-1.017000	0.03367	-0.556000	0.04195	GAG	APBB1	-	NULL	ENSG00000166313		0.637	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	114	0.00	0	C	NM_001164		6432092	6432092	-1	no_errors	ENST00000389906	ensembl	human	known	69_37n	missense	89	13.59	14	SNP	0.889	A
APOBR	55911	genome.wustl.edu	37	16	28508718	28508719	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:28508718_28508719insT	ENST00000431282.1	+	3	2339_2340	c.2329_2330insT	c.(2329-2331)cttfs	p.L777fs	APOBR_ENST00000328423.5_Frame_Shift_Ins_p.L777fs|APOBR_ENST00000564831.1_Frame_Shift_Ins_p.L786fs|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	777	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGAAGGGGTGCTTGGGCAAGGC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2331dupT	16.37:g.28508720_28508720dupT	ENSP00000416094:p.Leu777fs	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Frame_Shift_Ins	INS	NULL	p.G787fs	ENST00000431282.1	37	c.2356_2357		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.584	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		58	0.00	0	-	NM_182804		28508718	28508719	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	frame_shift_ins	56	22.22	16	INS	0.000:0.000	T
APPBP2	10513	genome.wustl.edu	37	17	58539146	58539146	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:58539146delA	ENST00000083182.3	-	8	1224				APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2						intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AGGTTGAAAGAAAAAAAGGGT	0.358																																						dbGAP											0													57.0	63.0	61.0					17																	58539146		2203	4295	6498	-	-	-	SO:0001627	intron_variant	0			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.936+24T>-	17.37:g.58539146delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K862|O95095|Q8WVC9	RNA	DEL	-	NULL	ENST00000083182.3	37	NULL	CCDS32699.1	17																																																																																			APPBP2	-	-	ENSG00000062725		0.358	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	93	0.00	0	A	NM_006380		58539146	58539146	-1	no_errors	ENST00000592995	ensembl	human	known	69_37n	rna	91	35.57	53	DEL	0.001	-
ARAF	369	genome.wustl.edu	37	X	47426421	47426421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:47426421delG	ENST00000377045.4	+	9	958	c.764delG	c.(763-765)cggfs	p.R255fs	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	255					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGAACCCCCCGGGGGAGCCCC	0.642																																						dbGAP											0													24.0	25.0	25.0					X																	47426421		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.764delG	X.37:g.47426421delG	ENSP00000366244:p.Arg255fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P07557|Q5H9B2|Q5H9B3	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S257fs	ENST00000377045.4	37	c.764	CCDS35232.1	X																																																																																			ARAF	-	NULL	ENSG00000078061		0.642	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	38	0.00	0	G			47426421	47426421	+1	no_errors	ENST00000377045	ensembl	human	known	69_37n	frame_shift_del	14	23.81	5	DEL	0.192	-
ARHGAP11A	9824	genome.wustl.edu	37	15	32929873	32929873	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:32929873A>G	ENST00000361627.3	+	12	3621	c.2899A>G	c.(2899-2901)Aat>Gat	p.N967D	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N778D|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N778D	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	967					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGATCTGACTAATCATGATAT	0.403																																					Colon(45;757 1134 30003 36652)	dbGAP											0													75.0	77.0	76.0					15																	32929873		2200	4300	6500	-	-	-	SO:0001583	missense	0			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.2899A>G	15.37:g.32929873A>G	ENSP00000355090:p.Asn967Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.N967D	ENST00000361627.3	37	c.2899	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901713	0.72754	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.26373	1.74	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000009	T	0.53302	0.1788	M	0.80847	2.515	0.43756	D	0.99626	D	0.89917	1.0	D	0.83275	0.996	T	0.59899	-0.7367	10	0.72032	D	0.01	.	14.881	0.70534	1.0:0.0:0.0:0.0	.	967	Q6P4F7	RHGBA_HUMAN	D	967;778	ENSP00000355090:N967D	ENSP00000355090:N967D	N	+	1	0	ARHGAP11A	30717165	1.000000	0.71417	0.992000	0.48379	0.810000	0.45777	6.528000	0.73807	2.154000	0.67381	0.482000	0.46254	AAT	ARHGAP11A	-	NULL	ENSG00000198826		0.403	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	111	0.00	0	A	NM_014783		32929873	32929873	+1	no_errors	ENST00000361627	ensembl	human	known	69_37n	missense	89	21.93	25	SNP	1.000	G
ARHGAP18	93663	genome.wustl.edu	37	6	129950558	129950558	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:129950558A>G	ENST00000368149.2	-	5	814	c.726T>C	c.(724-726)aaT>aaC	p.N242N		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TCTCTTTCTGATTGAGTGCTT	0.448																																						dbGAP											0													136.0	137.0	136.0					6																	129950558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.726T>C	6.37:g.129950558A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.N242	ENST00000368149.2	37	c.726	CCDS34535.1	6																																																																																			ARHGAP18	-	NULL	ENSG00000146376		0.448	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	135	0.00	0	A	NM_033515		129950558	129950558	-1	no_errors	ENST00000275189	ensembl	human	known	69_37n	silent	135	14.56	23	SNP	0.969	G
ARHGAP25	9938	genome.wustl.edu	37	2	68962637	68962637	+	Intron	SNP	C	C	T	rs561572093		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:68962637C>T	ENST00000295381.3	+	1	480				ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409202.3_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGGGTACTTCGGATGATTTA	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.61+245C>T	2.37:g.68962637C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	RNA	SNP	-	NULL	ENST00000295381.3	37	NULL		2																																																																																			ARHGAP25	-	-	ENSG00000163219		0.438	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		30	0.00	0	C	NM_014882		68962637	68962637	+1	no_errors	ENST00000485700	ensembl	human	known	69_37n	rna	19	29.63	8	SNP	0.000	T
ARHGAP44	9912	genome.wustl.edu	37	17	12846952	12846952	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:12846952G>A	ENST00000379672.5	+	9	999	c.699G>A	c.(697-699)ttG>ttA	p.L233L	ARHGAP44_ENST00000262444.9_Silent_p.L233L|ARHGAP44_ENST00000340825.3_Silent_p.L233L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	233	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGACACTATTGCAGGCTGTAT	0.542																																						dbGAP											0													151.0	142.0	145.0					17																	12846952		2004	4156	6160	-	-	-	SO:0001819	synonymous_variant	0				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.699G>A	17.37:g.12846952G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.L233	ENST00000379672.5	37	c.699	CCDS45616.1	17																																																																																			ARHGAP44	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000006740		0.542	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	197	0.00	0	G	NM_014859		12846952	12846952	+1	no_errors	ENST00000379672	ensembl	human	known	69_37n	silent	177	19.91	44	SNP	0.998	A
ARHGEF11	9826	genome.wustl.edu	37	1	156928929	156928929	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:156928929G>A	ENST00000361409.2	-	15	1910	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R430C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	390	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCGCAGGCGCGAGTCTGTA	0.572																																						dbGAP											0													63.0	55.0	58.0					1																	156928929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1168C>T	1.37:g.156928929G>A	ENSP00000354644:p.Arg390Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.R430C	ENST00000361409.2	37	c.1288	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204379	0.38905	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84730	-1.89;-1.89	4.69	3.76	0.43208	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.115307	0.36932	N	0.002332	D	0.87346	0.6154	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68621	0.959;0.84	D	0.88777	0.3268	10	0.87932	D	0	-13.608	12.1815	0.54214	0.0:0.0:0.8288:0.1712	.	390;430	O15085;O15085-2	ARHGB_HUMAN;.	C	430;390	ENSP00000357177:R430C;ENSP00000354644:R390C	ENSP00000354644:R390C	R	-	1	0	ARHGEF11	155195553	1.000000	0.71417	0.707000	0.30419	0.003000	0.03518	5.606000	0.67641	1.176000	0.42840	-0.500000	0.04577	CGC	ARHGEF11	-	pfam_Regulat_G_prot_signal-like,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000132694		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	73	0.00	0	G	NM_198236		156928929	156928929	-1	no_errors	ENST00000368194	ensembl	human	known	69_37n	missense	67	27.17	25	SNP	0.893	A
ARHGEF15	22899	genome.wustl.edu	37	17	8222360	8222360	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:8222360G>A	ENST00000361926.3	+	13	2179	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	ARHGEF15_ENST00000582060.1_Intron|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R690H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	690					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TATGCCCATCGCTCCCTGGTC	0.657																																						dbGAP											0													75.0	78.0	77.0					17																	8222360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2069G>A	17.37:g.8222360G>A	ENSP00000355026:p.Arg690His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.R690H	ENST00000361926.3	37	c.2069	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	23.3	4.394993	0.83011	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.87729	-2.29;-2.29	5.04	4.07	0.47477	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.81112	2.525	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92929	0.6362	10	0.72032	D	0.01	-20.5195	11.0983	0.48160	0.0897:0.0:0.9103:0.0	.	690;690	D3DTR7;O94989	.;ARHGF_HUMAN	H	690;480;690	ENSP00000355026:R690H;ENSP00000412505:R690H	ENSP00000355026:R690H	R	+	2	0	ARHGEF15	8163085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.233000	0.65337	1.360000	0.45960	0.561000	0.74099	CGC	ARHGEF15	-	NULL	ENSG00000198844		0.657	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	93	0.00	0	G	NM_173728		8222360	8222360	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	1.000	A
ARID1A	8289	genome.wustl.edu	37	1	27106008	27106008	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:27106008C>T	ENST00000324856.7	+	20	5990	c.5619C>T	c.(5617-5619)ccC>ccT	p.P1873P	ARID1A_ENST00000540690.1_Silent_p.P201P|ARID1A_ENST00000374152.2_Silent_p.P1490P|ARID1A_ENST00000457599.2_Silent_p.P1656P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1873					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCACGCACCCTGCCCACCAG	0.627			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													65.0	71.0	69.0					1																	27106008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5619C>T	1.37:g.27106008C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P1873	ENST00000324856.7	37	c.5619	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	202	0.00	0	C	NM_139135		27106008	27106008	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	silent	119	23.72	37	SNP	0.880	T
ARHGEF2	9181	genome.wustl.edu	37	1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155931554G>A	ENST00000361247.4	-	11	1465	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P428S|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.P501S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P457S|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	456					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602																																					Melanoma(178;35 2768 6610 28839)	dbGAP											0													63.0	63.0	63.0					1																	155931554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1366C>T	1.37:g.155931554G>A	ENSP00000354837:p.Pro456Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.P457S	ENST00000361247.4	37	c.1369	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352360	0.41700	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	4.95	4.95	0.65309	Pleckstrin homology-type (1);	0.000000	0.46758	D	0.000263	T	0.30166	0.0756	L	0.44542	1.39	0.30675	N	0.752969	B;P;B	0.43231	0.245;0.801;0.359	B;B;B	0.35353	0.017;0.201;0.038	T	0.16482	-1.0401	10	0.14252	T	0.57	-23.6489	11.0118	0.47667	0.0:0.0:0.8142:0.1858	.	500;456;455	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	S	428;456;457;428;455	ENSP00000315325:P428S;ENSP00000354837:P456S;ENSP00000357298:P457S;ENSP00000357299:P428S;ENSP00000314787:P455S	ENSP00000314787:P455S	P	-	1	0	ARHGEF2	154198178	0.549000	0.26481	0.998000	0.56505	0.997000	0.91878	0.714000	0.25808	2.724000	0.93272	0.655000	0.94253	CCA	ARHGEF2	-	NULL	ENSG00000116584		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	94	0.00	0	G	NM_004723		155931554	155931554	-1	no_errors	ENST00000368315	ensembl	human	known	69_37n	missense	41	42.25	30	SNP	0.953	A
RBM34	23029	genome.wustl.edu	37	1	235324563	235324563	+	5'UTR	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:235324563A>G	ENST00000408888.3	-	0	209				RBM34_ENST00000366606.3_5'UTR			P42696	RBM34_HUMAN	RNA binding motif protein 34							nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			AGACTCCCAGACTGCAGCTGC	0.662																																						dbGAP											0													95.0	103.0	100.0					1																	235324563		1957	4152	6109	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.-22T>C	1.37:g.235324563A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	NULL	p.S690	ENST00000408888.3	37	c.2070	CCDS41477.2	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.662	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000100146.1	100	0.00	0	A	NM_015014		235324563	235324563	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000474953	ensembl	human	known	69_37n	silent	139	13.12	21	SNP	0.000	G
ARMC3	219681	genome.wustl.edu	37	10	23235198	23235198	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:23235198delT	ENST00000298032.5	+	3	250				ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Intron|ARMC3_ENST00000409983.3_Intron	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3							extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGGTTTGGATTTTTTTCAGT	0.318																																						dbGAP											0										21,1,4240		1,0,19,0,1,2110	69.0	73.0	71.0			0.4	0.2	10		72	0,0,8252		0,0,0,0,0,4126	no	intron	ARMC3	NM_173081.3		1,0,19,0,1,6236	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0,0.5162,0.1758			23235198	21,1,12492	2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.166+8T>-	10.37:g.23235198delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	RNA	DEL	-	NULL	ENST00000298032.5	37	NULL	CCDS7142.1	10																																																																																			ARMC3	-	-	ENSG00000165309		0.318	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	105	0.00	0	T	NM_173081		23235198	23235198	+1	no_errors	ENST00000465729	ensembl	human	known	69_37n	rna	68	27.66	26	DEL	0.001	-
ARMC4	55130	genome.wustl.edu	37	10	28260103	28260103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:28260103C>T	ENST00000305242.5	-	8	1168	c.1076G>A	c.(1075-1077)tGg>tAg	p.W359*	ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Nonsense_Mutation_p.W216*|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.W51*	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	359					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGATTCCTCCAAAAATTAAT	0.423																																						dbGAP											0													101.0	102.0	102.0					10																	28260103		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1076G>A	10.37:g.28260103C>T	ENSP00000306410:p.Trp359*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.W359*	ENST00000305242.5	37	c.1076	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934416	0.73442	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	.	.	.	5.06	-1.15	0.09709	.	1.355410	0.04808	N	0.434784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-10.6383	3.2042	0.06659	0.5191:0.25:0.1396:0.0913	.	.	.	.	X	51;359;51;253;216	.	ENSP00000239715:W216X	W	-	2	0	ARMC4	28300109	0.000000	0.05858	0.012000	0.15200	0.016000	0.09150	-1.210000	0.02999	0.112000	0.17975	0.650000	0.86243	TGG	ARMC4	-	NULL	ENSG00000169126		0.423	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	189	0.00	0	C	NM_018076		28260103	28260103	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	nonsense	112	18.25	25	SNP	0.001	T
ARMC9	80210	genome.wustl.edu	37	2	232079546	232079546	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:232079546G>T	ENST00000349938.4	+	4	374	c.180G>T	c.(178-180)aaG>aaT	p.K60N	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	60						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCCACAGAAGGATCTTGTCG	0.468																																						dbGAP											0													116.0	104.0	108.0					2																	232079546		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.180G>T	2.37:g.232079546G>T	ENSP00000258417:p.Lys60Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.K60N	ENST00000349938.4	37	c.180	CCDS2484.1	2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811021	0.50421	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.46819	2.19;0.86	5.81	4.92	0.64577	.	0.333371	0.34603	N	0.003825	T	0.31979	0.0814	N	0.20685	0.6	0.37227	D	0.905513	B	0.15930	0.015	B	0.20184	0.028	T	0.18903	-1.0322	10	0.20046	T	0.44	-9.9241	12.6509	0.56761	0.1303:0.0:0.8697:0.0	.	60	Q7Z3E5	ARMC9_HUMAN	N	60	ENSP00000258417:K60N;ENSP00000387391:K60N	ENSP00000258417:K60N	K	+	3	2	ARMC9	231787790	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	2.916000	0.48813	2.737000	0.93849	0.650000	0.86243	AAG	ARMC9	-	NULL	ENSG00000135931		0.468	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	64	0.00	0	G	NM_025139		232079546	232079546	+1	no_errors	ENST00000349938	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	T
ARMCX1	51309	genome.wustl.edu	37	X	100808397	100808397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:100808397delG	ENST00000372829.3	+	4	855	c.484delG	c.(484-486)gggfs	p.G163fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	163						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ATCTAGGGCCGGGGGCAGGGC	0.612																																						dbGAP											0													49.0	51.0	50.0					X																	100808397		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.484delG	X.37:g.100808397delG	ENSP00000361917:p.Gly163fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HK2|Q9H2Q0	Frame_Shift_Del	DEL	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G163fs	ENST00000372829.3	37	c.484	CCDS14487.1	X																																																																																			ARMCX1	-	NULL	ENSG00000126947		0.612	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	251	0.00	0	G	NM_016608		100808397	100808397	+1	no_errors	ENST00000372829	ensembl	human	known	69_37n	frame_shift_del	132	29.74	58	DEL	0.051	-
ARNTL	406	genome.wustl.edu	37	11	13408207	13408207	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:13408207T>C	ENST00000403290.1	+	20	2140	c.1785T>C	c.(1783-1785)aaT>aaC	p.N595N	ARNTL_ENST00000403482.3_Silent_p.N593N|ARNTL_ENST00000401424.1_Silent_p.N552N|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403510.3_Silent_p.N551N|ARNTL_ENST00000361003.4_Silent_p.N477N|ARNTL_ENST00000389707.4_Silent_p.N594N|ARNTL_ENST00000396441.3_Silent_p.N594N			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	595					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GTCCCAGTAATGATGAGGCAG	0.493																																						dbGAP											0													155.0	140.0	145.0					11																	13408207		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1785T>C	11.37:g.13408207T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.N595	ENST00000403290.1	37	c.1785		11																																																																																			ARNTL	-	NULL	ENSG00000133794		0.493	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	195	0.00	0	T	NM_001178		13408207	13408207	+1	no_errors	ENST00000403290	ensembl	human	known	69_37n	silent	188	14.93	33	SNP	0.773	C
ARPP19	10776	genome.wustl.edu	37	15	52849227	52849227	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:52849227C>T	ENST00000566423.1	-	3	302				ARPP19_ENST00000563566.1_Intron|ARPP19_ENST00000561650.1_Intron|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000561971.1_Intron|ARPP19_ENST00000563277.1_Intron|ARPP19_ENST00000567669.1_Intron|ARPP19_ENST00000569723.1_Intron|ARPP19_ENST00000569281.2_Intron|ARPP19_ENST00000564163.1_Intron|ARPP19_ENST00000249822.4_Intron|ARPP19_ENST00000568196.1_Intron			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACAGATATCCGTTTCACAAT	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"""endosulfine alpha-like"""	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.168+69G>A	15.37:g.52849227C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R497|Q6IAM2|Q86TA6|Q9UD70	RNA	SNP	-	NULL	ENST00000566423.1	37	NULL	CCDS32242.1	15																																																																																			ARPP19	-	-	ENSG00000128989		0.348	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP19	HGNC	protein_coding	OTTHUMT00000419834.1	129	0.00	0	C	NM_006628		52849227	52849227	-1	no_errors	ENST00000565288	ensembl	human	known	69_37n	rna	92	27.56	35	SNP	0.001	T
ARSF	416	genome.wustl.edu	37	X	3002327	3002327	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:3002327G>A	ENST00000381127.1	+	6	671	c.450G>A	c.(448-450)caG>caA	p.Q150Q	ARSF_ENST00000537104.1_Silent_p.Q150Q|ARSF_ENST00000359361.2_Silent_p.Q150Q	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	150					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGTGACCAGTGCCACCATC	0.483																																						dbGAP											0													146.0	113.0	125.0					X																	3002327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.450G>A	X.37:g.3002327G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.Q150	ENST00000381127.1	37	c.450	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.483	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	74	0.00	0	G			3002327	3002327	+1	no_errors	ENST00000359361	ensembl	human	known	69_37n	silent	80	13.04	12	SNP	0.999	A
ASB11	140456	genome.wustl.edu	37	X	15333633	15333633	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:15333633delA	ENST00000480796.1	-	1	145	c.95delT	c.(94-96)ttgfs	p.L32fs	ASB11_ENST00000380470.3_Frame_Shift_Del_p.L32fs|ASB11_ENST00000344384.4_5'Flank|ASB11_ENST00000537676.1_5'Flank			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	32					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGAGCCAAAAAAACTTT	0.328																																						dbGAP											0													64.0	63.0	63.0					X																	15333633		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.95delT	X.37:g.15333633delA	ENSP00000417914:p.Leu32fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEN1|Q3SYC4|Q7Z667	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L32fs	ENST00000480796.1	37	c.95	CCDS14164.1	X																																																																																			ASB11	-	NULL	ENSG00000165192		0.328	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB11	HGNC	protein_coding	OTTHUMT00000055852.2	172	0.00	0	A			15333633	15333633	-1	no_errors	ENST00000480796	ensembl	human	known	69_37n	frame_shift_del	97	18.18	22	DEL	1.000	-
ASB17	127247	genome.wustl.edu	37	1	76397785	76397785	+	Silent	SNP	G	G	A	rs534539433		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:76397785G>A	ENST00000284142.6	-	1	331	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	64					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGAGTAGTGCGTCAAAACCAT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		18876	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													153.0	140.0	144.0					1																	76397785		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.192C>T	1.37:g.76397785G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APB8|Q8N0X5	Silent	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.D64	ENST00000284142.6	37	c.192	CCDS671.1	1																																																																																			ASB17	-	NULL	ENSG00000154007		0.393	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	247	0.00	0	G	NM_080868		76397785	76397785	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	silent	157	25.59	54	SNP	0.632	A
ASH1L	55870	genome.wustl.edu	37	1	155447691	155447691	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155447691A>G	ENST00000368346.3	-	3	5609	c.4970T>C	c.(4969-4971)gTa>gCa	p.V1657A	ASH1L_ENST00000392403.3_Missense_Mutation_p.V1657A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1657	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAAAGTCTGTACTGCCCTTTC	0.403																																						dbGAP											0													70.0	76.0	74.0					1																	155447691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4970T>C	1.37:g.155447691A>G	ENSP00000357330:p.Val1657Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.V1657A	ENST00000368346.3	37	c.4970		1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177263	0.38413	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88354	-2.37;-2.37	5.44	5.44	0.79542	.	0.445828	0.22190	N	0.063392	T	0.63920	0.2552	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.60915	-0.7168	10	0.10377	T	0.69	.	9.7714	0.40591	0.9232:0.0:0.0768:0.0	.	1657;1657	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	1657	ENSP00000357330:V1657A;ENSP00000376204:V1657A	ENSP00000357330:V1657A	V	-	2	0	ASH1L	153714315	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	4.194000	0.58393	2.285000	0.76669	0.533000	0.62120	GTA	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	163	0.00	0	A	NM_018489		155447691	155447691	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	188	12.96	28	SNP	0.993	G
ASH1L	55870	genome.wustl.edu	37	1	155448996	155448996	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155448996delT	ENST00000368346.3	-	3	4304	c.3665delA	c.(3664-3666)aagfs	p.K1222fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1222					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGCCTCCTCTTTTTTTGCCC	0.413																																						dbGAP											0													159.0	166.0	164.0					1																	155448996		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3665delA	1.37:g.155448996delT	ENSP00000357330:p.Lys1222fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K1222fs	ENST00000368346.3	37	c.3665		1																																																																																			ASH1L	-	NULL	ENSG00000116539		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	410	0.00	0	T	NM_018489		155448996	155448996	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	frame_shift_del	482	14.89	85	DEL	1.000	-
ASPM	259266	genome.wustl.edu	37	1	197102624	197102624	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:197102624G>T	ENST00000367409.4	-	6	2531	c.2275C>A	c.(2275-2277)Cgg>Agg	p.R759R	ASPM_ENST00000294732.7_Silent_p.R759R|ASPM_ENST00000367408.1_Silent_p.R9R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	759					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACCTACACCGAGCAGTATAA	0.368																																						dbGAP											0													108.0	99.0	102.0					1																	197102624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2275C>A	1.37:g.197102624G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R759	ENST00000367409.4	37	c.2275	CCDS1389.1	1																																																																																			ASPM	-	NULL	ENSG00000066279		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	120	0.00	0	G	NM_018136		197102624	197102624	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	silent	108	34.94	58	SNP	0.996	T
ASTN2	23245	genome.wustl.edu	37	9	119188274	119188274	+	Silent	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:119188274T>G	ENST00000313400.4	-	23	3976	c.3876A>C	c.(3874-3876)acA>acC	p.T1292T	ASTN2_ENST00000373996.3_Silent_p.T1288T|ASTN2_ENST00000288520.5_Silent_p.T393T|ASTN2_ENST00000341734.4_Silent_p.T344T|ASTN2_ENST00000361209.2_Silent_p.T1241T|ASTN2_ENST00000361477.3_Silent_p.T344T			O75129	ASTN2_HUMAN	astrotactin 2	1292					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATAGGGCACTGTTTCCACGC	0.582																																						dbGAP											0													89.0	74.0	79.0					9																	119188274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3876A>C	9.37:g.119188274T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.T1292	ENST00000313400.4	37	c.3876		9																																																																																			ASTN2	-	NULL	ENSG00000148219		0.582	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		48	0.00	0	T	NM_014010		119188274	119188274	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	silent	23	42.50	17	SNP	0.998	G
ASUN	55726	genome.wustl.edu	37	12	27081205	27081205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:27081205G>A	ENST00000261191.7	-	5	1053	c.517C>T	c.(517-519)Cga>Tga	p.R173*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.R72*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	173					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCAAGCATTCGCACATGACTA	0.313																																						dbGAP											0													87.0	81.0	83.0					12																	27081205		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.517C>T	12.37:g.27081205G>A	ENSP00000261191:p.Arg173*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.R173*	ENST00000261191.7	37	c.517	CCDS8708.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.559210	0.96514	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	.	.	.	5.46	4.57	0.56435	.	0.065587	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.516	14.7635	0.69621	0.07:0.0:0.93:0.0	.	.	.	.	X	173;72;72;173	.	ENSP00000261191:R173X	R	-	1	2	C12orf11	26972472	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.835000	0.92100	1.447000	0.47661	0.585000	0.79938	CGA	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb	ENSG00000064102		0.313	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	109	0.00	0	G	NM_018164		27081205	27081205	-1	no_errors	ENST00000261191	ensembl	human	known	69_37n	nonsense	92	37.84	56	SNP	1.000	A
ASZ1	136991	genome.wustl.edu	37	7	117003766	117003766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:117003766G>A	ENST00000284629.2	-	13	1374	c.1312C>T	c.(1312-1314)Caa>Taa	p.Q438*		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCCCTTAATTGTATATGAGTT	0.313																																						dbGAP											0													90.0	87.0	88.0					7																	117003766		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1312C>T	7.37:g.117003766G>A	ENSP00000284629:p.Gln438*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q438*	ENST00000284629.2	37	c.1312	CCDS5772.1	7	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578072	0.86645	.	.	ENSG00000154438	ENST00000284629	.	.	.	5.23	4.34	0.51931	.	0.170546	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	1.2813	11.2528	0.49037	0.0:0.0:0.8173:0.1827	.	.	.	.	X	438	.	ENSP00000284629:Q438X	Q	-	1	0	ASZ1	116791002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.881000	0.56152	1.189000	0.43028	0.591000	0.81541	CAA	ASZ1	-	NULL	ENSG00000154438		0.313	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	HGNC	protein_coding	OTTHUMT00000138907.7	102	0.00	0	G	NM_130768		117003766	117003766	-1	no_errors	ENST00000284629	ensembl	human	known	69_37n	nonsense	73	23.96	23	SNP	1.000	A
ATAD5	79915	genome.wustl.edu	37	17	29192721	29192721	+	Splice_Site	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:29192721G>C	ENST00000321990.4	+	11	3514		c.e11-1		CTD-2349P21.11_ENST00000580873.1_RNA|RP13-753N3.1_ENST00000584157.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTTAGATTCTGGAAC	0.294																																						dbGAP											0													57.0	59.0	58.0					17																	29192721		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3137-1G>C	17.37:g.29192721G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Splice_Site	SNP	-	e11-1	ENST00000321990.4	37	c.3137-1	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509640	0.64522	.	.	ENSG00000176208	ENST00000321990	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2326	0.93846	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATAD5	26216847	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.024000	0.76443	2.538000	0.85594	0.650000	0.86243	.	ATAD5	-	-	ENSG00000176208		0.294	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	58	0.00	0	G	NM_024857	Intron	29192721	29192721	+1	no_errors	ENST00000321990	ensembl	human	known	69_37n	splice_site	43	32.81	21	SNP	1.000	C
ATF7IP	55729	genome.wustl.edu	37	12	14613927	14613927	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:14613927G>T	ENST00000540793.1	+	8	2812	c.2657G>T	c.(2656-2658)aGg>aTg	p.R886M	ATF7IP_ENST00000536444.1_Missense_Mutation_p.R885M|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R885M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R886M|ATF7IP_ENST00000544627.1_Missense_Mutation_p.R894M			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	886					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAAGCCACAAGGACTTCTTTA	0.458																																						dbGAP											0													52.0	50.0	51.0					12																	14613927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2657G>T	12.37:g.14613927G>T	ENSP00000444589:p.Arg886Met	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R886M	ENST00000540793.1	37	c.2657	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561728	0.86335	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.25912	1.8;1.89;1.8;1.77;1.8	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	L	0.59436	1.845	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.17048	-1.0382	9	.	.	.	-9.536	20.8598	0.99761	0.0:0.0:1.0:0.0	.	885;886;885;497	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	M	886;885;885;894;886	ENSP00000261168:R886M;ENSP00000443179:R885M;ENSP00000445955:R885M;ENSP00000440440:R894M;ENSP00000444589:R886M	.	R	+	2	0	ATF7IP	14505194	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.740000	0.74832	2.937000	0.99478	0.650000	0.86243	AGG	ATF7IP	-	NULL	ENSG00000171681		0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	131	0.00	0	G	NM_018179		14613927	14613927	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	missense	89	24.58	29	SNP	1.000	T
ATG16L2	89849	genome.wustl.edu	37	11	72539521	72539521	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:72539521C>G	ENST00000321297.5	+	15	1728	c.1590C>G	c.(1588-1590)gaC>gaG	p.D530E	ATG16L2_ENST00000534905.1_Missense_Mutation_p.P146A	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	530					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			AGGTCATCGACCTGCGTGTCA	0.597																																						dbGAP											0													130.0	110.0	117.0					11																	72539521		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1590C>G	11.37:g.72539521C>G	ENSP00000326340:p.Asp530Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D530E	ENST00000321297.5	37	c.1590	CCDS31634.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.1|23.1|23.1	4.369204|4.369204|4.369204	0.82463|0.82463|0.82463	.|.|.	.|.|.	ENSG00000168010|ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000534905;ENST00000540222|ENST00000541554	T;T;T|.|.	0.68331|.|.	-0.32;-0.32;-0.32|.|.	5.23|5.23|5.23	4.32|4.32|4.32	0.51571|0.51571|0.51571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.60077|0.60077|0.60077	0.2241|0.2241|0.2241	M|M|M	0.78344|0.78344|0.78344	2.41|2.41|2.41	0.24316|0.24316|0.24316	N|N|N	0.995063|0.995063|0.995063	D;D|P|.	0.89917|0.49559|.	1.0;1.0|0.925|.	D;D|B|.	0.85130|0.44163|.	0.996;0.997|0.443|.	T|T|T	0.53464|0.53464|0.53464	-0.8435|-0.8435|-0.8435	10|8|5	0.56958|0.10636|.	D|T|.	0.05|0.68|.	.|.|.	11.8818|11.8818|11.8818	0.52579|0.52579|0.52579	0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086|0.0:0.914:0.0:0.086	.|.|.	424;530|146|.	Q8NAA4-2;Q8NAA4|F5GWZ9|.	.;A16L2_HUMAN|.|.	E|A|S	530;361;361|146;308|98	ENSP00000326340:D530E;ENSP00000441989:D361E;ENSP00000437412:D361E|.|.	ENSP00000326340:D530E|ENSP00000441189:P146A|.	D|P|T	+|+|+	3|1|2	2|0|0	ATG16L2|ATG16L2|ATG16L2	72217169|72217169|72217169	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	3.521000|3.521000|3.521000	0.53472|0.53472|0.53472	1.345000|1.345000|1.345000	0.45676|0.45676|0.45676	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	GAC|CCT|ACC	ATG16L2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000168010		0.597	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	118	0.00	0	C	NM_033388		72539521	72539521	+1	no_errors	ENST00000321297	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	G
ATG3	64422	genome.wustl.edu	37	3	112255139	112255139	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:112255139delT	ENST00000283290.5	-	10	1229				ATG3_ENST00000402314.2_Intron|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3						autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AATTGGTAAGTTTTTTTTCCT	0.249																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.794+182A>-	3.37:g.112255139delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PKC5|Q9H6L9	RNA	DEL	-	NULL	ENST00000283290.5	37	NULL	CCDS2966.1	3																																																																																			ATG3	-	-	ENSG00000144848		0.249	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	17	0.00	0	T	NM_022488		112255139	112255139	-1	no_errors	ENST00000495756	ensembl	human	known	69_37n	rna	14	41.67	10	DEL	0.000	-
ATG7	10533	genome.wustl.edu	37	3	11350233	11350233	+	Intron	SNP	G	G	A	rs562944924		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:11350233G>A	ENST00000354449.3	+	5	358				ATG7_ENST00000354956.5_Intron|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAGAGGAGGCGCCTGGGTTCC	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.334-225G>A	3.37:g.11350233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	RNA	SNP	-	NULL	ENST00000354449.3	37	NULL	CCDS2605.1	3																																																																																			ATG7	-	-	ENSG00000197548		0.498	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	50	0.00	0	G	NM_006395		11350233	11350233	+1	no_errors	ENST00000464282	ensembl	human	putative	69_37n	rna	44	18.52	10	SNP	0.000	A
ATL1	51062	genome.wustl.edu	37	14	51062310	51062310	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:51062310G>A	ENST00000358385.6	+	6	831	c.590G>A	c.(589-591)gGc>gAc	p.G197D	ATL1_ENST00000441560.2_Missense_Mutation_p.G197D|ATL1_ENST00000354525.4_Missense_Mutation_p.G197D|ATL1_ENST00000357032.3_Missense_Mutation_p.G197D	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	197	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ACTGAGTATGGCAGACTGGCA	0.398																																						dbGAP											0													107.0	103.0	104.0					14																	51062310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.590G>A	14.37:g.51062310G>A	ENSP00000351155:p.Gly197Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.G197D	ENST00000358385.6	37	c.590	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.119504	0.94385	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525;ENST00000554886	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.81	5.81	0.92471	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.91687	0.5363	10	0.87932	D	0	-11.2244	19.0778	0.93169	0.0:0.0:1.0:0.0	.	197;197	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	D	197;197;197;197;53	ENSP00000413675:G197D;ENSP00000351155:G197D;ENSP00000349534:G197D;ENSP00000346522:G197D;ENSP00000452074:G53D	ENSP00000346522:G197D	G	+	2	0	ATL1	50132060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.768000	0.98965	2.741000	0.93983	0.650000	0.86243	GGC	ATL1	-	pfam_Guanylate-bd_N	ENSG00000198513		0.398	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	84	0.00	0	G			51062310	51062310	+1	no_errors	ENST00000357032	ensembl	human	known	69_37n	missense	81	26.13	29	SNP	1.000	A
ATL1	51062	genome.wustl.edu	37	14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	rs119476046		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:51080061C>T	ENST00000358385.6	+	7	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_ENST00000441560.2_Missense_Mutation_p.R239C|ATL1_ENST00000354525.4_Missense_Mutation_p.R239C|ATL1_ENST00000357032.3_Missense_Mutation_p.R239C	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	239	GB1/RHD3-type G.		R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology). {ECO:0000269|PubMed:11685207, ECO:0000269|PubMed:20718791, ECO:0000269|PubMed:20932283}.		axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353																																						dbGAP											0			GRCh37	CM013290	ATL1	M	rs119476046						81.0	83.0	82.0					14																	51080061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.715C>T	14.37:g.51080061C>T	ENSP00000351155:p.Arg239Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R239C	ENST00000358385.6	37	c.715	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856193	0.51376	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.27	4.38	0.52667	Guanylate-binding protein, N-terminal (1);	0.091324	0.64402	N	0.000001	T	0.57066	0.2028	M	0.78285	2.405	0.80722	A	1	P;P	0.41910	0.764;0.696	B;B	0.40864	0.342;0.232	T	0.70938	-0.4736	9	0.52906	T	0.07	-1.2288	7.8214	0.29290	0.2684:0.6542:0.0:0.0774	.	239;239	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	C	239	ENSP00000413675:R239C;ENSP00000351155:R239C;ENSP00000349534:R239C;ENSP00000346522:R239C	ENSP00000346522:R239C	R	+	1	0	ATL1	50149811	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.407000	0.44565	1.358000	0.45922	0.561000	0.74099	CGC	ATL1	-	pfam_Guanylate-bd_N	ENSG00000198513		0.353	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	76	0.00	0	C			51080061	51080061	+1	no_errors	ENST00000357032	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	T
ATP13A5	344905	genome.wustl.edu	37	3	193002798	193002798	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:193002798G>A	ENST00000342358.4	-	27	3248	c.3131C>T	c.(3130-3132)aCc>aTc	p.T1044I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1044						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGTGTGGTGGTCTCAAAACT	0.388																																						dbGAP											0													126.0	132.0	130.0					3																	193002798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3131C>T	3.37:g.193002798G>A	ENSP00000341942:p.Thr1044Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.T1044I	ENST00000342358.4	37	c.3131	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537357	0.27475	.	.	ENSG00000187527	ENST00000342358	D	0.92397	-3.03	5.48	0.377	0.16198	.	0.595751	0.18507	N	0.139166	D	0.89121	0.6625	L	0.41492	1.28	0.18873	N	0.999986	B	0.14012	0.009	B	0.17098	0.017	T	0.76547	-0.2919	10	0.87932	D	0	-2.2348	19.9371	0.97144	0.0:0.2808:0.7192:0.0	.	1044	Q4VNC0	AT135_HUMAN	I	1044	ENSP00000341942:T1044I	ENSP00000341942:T1044I	T	-	2	0	ATP13A5	194485492	0.009000	0.17119	0.455000	0.27031	0.853000	0.48598	0.228000	0.17814	-0.217000	0.10033	-1.094000	0.02160	ACC	ATP13A5	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000187527		0.388	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	81	0.00	0	G	NM_198505		193002798	193002798	-1	no_errors	ENST00000342358	ensembl	human	known	69_37n	missense	82	24.07	26	SNP	0.501	A
ATP6V0A1	535	genome.wustl.edu	37	17	40660601	40660601	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:40660601C>T	ENST00000343619.4	+	19	2247	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	ATP6V0A1_ENST00000393829.2_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000264649.6_Intron|ATP6V0A1_ENST00000585525.1_Silent_p.D665D|ATP6V0A1_ENST00000544137.1_Silent_p.D354D|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000546249.1_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	708					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTTCCGAGGACGAAGTGGTAA	0.527																																						dbGAP											0													166.0	145.0	152.0					17																	40660601		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2124C>T	17.37:g.40660601C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_ATPase_V0/A0_a	p.D708	ENST00000343619.4	37	c.2124	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_ATPase_V0/A0_a	ENSG00000033627		0.527	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	71	0.00	0	C	NM_001130020		40660601	40660601	+1	no_errors	ENST00000343619	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	0.630	T
ATP9B	374868	genome.wustl.edu	37	18	77066988	77066988	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:77066988G>A	ENST00000426216.2	+	15	1544	c.1527G>A	c.(1525-1527)atG>atA	p.M509I	ATP9B_ENST00000307671.7_Missense_Mutation_p.M509I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	509					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTCTAAAGATGCAGTCTCAAG	0.348																																						dbGAP											0													58.0	56.0	57.0					18																	77066988		2203	4300	6503	-	-	-	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1527G>A	18.37:g.77066988G>A	ENSP00000398076:p.Met509Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.M509I	ENST00000426216.2	37	c.1527	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396386	0.25205	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.62232	0.04;0.04	4.83	1.69	0.24217	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	3.512760	0.00622	N	0.000445	T	0.33847	0.0877	N	0.01751	-0.74	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.22103	-1.0226	10	0.36615	T	0.2	.	0.9	0.01272	0.255:0.1231:0.3704:0.2516	.	509;509	O43861;O43861-2	ATP9B_HUMAN;.	I	509	ENSP00000398076:M509I;ENSP00000304500:M509I	ENSP00000304500:M509I	M	+	3	0	ATP9B	75167976	0.000000	0.05858	0.000000	0.03702	0.836000	0.47400	-0.071000	0.11505	0.082000	0.17018	0.650000	0.86243	ATG	ATP9B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000166377		0.348	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	67	0.00	0	G	NM_198531		77066988	77066988	+1	no_errors	ENST00000426216	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	0.000	A
ATR	545	genome.wustl.edu	37	3	142180912	142180913	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:142180912_142180913delCT	ENST00000350721.4	-	42	7182_7183	c.7061_7062delAG	c.(7060-7062)gagfs	p.E2354fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.E2290fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2354	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCTACGAGACTCTGCATCTTT	0.297								Other conserved DNA damage response genes																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7061_7062delAG	3.37:g.142180914_142180915delCT	ENSP00000343741:p.Glu2354fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.E2354fs	ENST00000350721.4	37	c.7062_7061	CCDS3124.1	3																																																																																			ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.297	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	237	0.00	0	CT	NM_001184		142180912	142180913	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	frame_shift_del	166	29.10	71	DEL	1.000:1.000	-
ATXN2	6311	genome.wustl.edu	37	12	111954048	111954048	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:111954048G>T	ENST00000377617.3	-	10	1926	c.1765C>A	c.(1765-1767)Ccc>Acc	p.P589T	ATXN2_ENST00000608853.1_Missense_Mutation_p.P429T|ATXN2_ENST00000535949.1_Missense_Mutation_p.P300T|ATXN2_ENST00000550104.1_Missense_Mutation_p.P589T|ATXN2_ENST00000542287.2_Missense_Mutation_p.P324T|ATXN2_ENST00000389153.4_Missense_Mutation_p.P324T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	589	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGCCGCGAGGGGGGCCTGGAG	0.612																																						dbGAP											0													33.0	37.0	35.0					12																	111954048		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1765C>A	12.37:g.111954048G>T	ENSP00000366843:p.Pro589Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P589T	ENST00000377617.3	37	c.1765	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478571	0.63849	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.69561	-0.3;-0.41	5.6	4.71	0.59529	.	0.101889	0.64402	D	0.000002	T	0.69931	0.3166	N	0.24115	0.695	0.80722	D	1	P;P;P;D	0.89917	0.798;0.91;0.798;1.0	B;P;B;D	0.87578	0.284;0.469;0.254;0.998	T	0.68484	-0.5396	10	0.30854	T	0.27	-9.1731	14.1672	0.65486	0.0729:0.0:0.9271:0.0	.	324;589;300;324	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	T	324;589;589;324;300	ENSP00000366843:P589T;ENSP00000446576:P589T	ENSP00000366843:P589T	P	-	1	0	ATXN2	110438431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.258000	0.95555	1.354000	0.45846	-0.140000	0.14226	CCC	ATXN2	-	NULL	ENSG00000204842		0.612	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	26	0.00	0	G	NM_002973		111954048	111954048	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	T
AURKA	6790	genome.wustl.edu	37	20	54961339	54961339	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:54961339C>T	ENST00000347343.2	-	3	560	c.293G>A	c.(292-294)aGc>aAc	p.S98N	AURKA_ENST00000395914.1_Missense_Mutation_p.S98N|AURKA_ENST00000371356.2_Missense_Mutation_p.S98N|AURKA_ENST00000395913.3_Missense_Mutation_p.S98N|AURKA_ENST00000312783.6_Missense_Mutation_p.S98N|AURKA_ENST00000395911.1_Missense_Mutation_p.S98N|AURKA_ENST00000395907.1_Missense_Mutation_p.S98N|AURKA_ENST00000395909.4_Missense_Mutation_p.S98N|AURKA_ENST00000395915.3_Missense_Mutation_p.S98N	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	98					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GGGCTGCTTGCTCTTTTGGGT	0.483																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	dbGAP											0													161.0	139.0	147.0					20																	54961339		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.293G>A	20.37:g.54961339C>T	ENSP00000216911:p.Ser98Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S98N	ENST00000347343.2	37	c.293	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	C	3.331	-0.136749	0.06711	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.48;-0.03;2.71;2.47;2.42	5.34	-1.78	0.07957	.	0.369992	0.28151	N	0.016403	T	0.57858	0.2082	L	0.58428	1.81	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.001;0.007;0.005;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B	0.14578	0.003;0.011;0.004;0.001;0.001;0.002;0.001	T	0.44907	-0.9297	10	0.25751	T	0.34	-27.4623	7.2205	0.25983	0.0:0.4554:0.2911:0.2535	.	98;98;98;98;98;98;98	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	N	98	ENSP00000379245:S98N;ENSP00000379250:S98N;ENSP00000216911:S98N;ENSP00000379251:S98N;ENSP00000321591:S98N;ENSP00000360407:S98N;ENSP00000379249:S98N;ENSP00000379247:S98N;ENSP00000379243:S98N;ENSP00000393452:S98N;ENSP00000388073:S98N;ENSP00000405042:S98N;ENSP00000405170:S98N	ENSP00000321591:S98N	S	-	2	0	AURKA	54394746	0.023000	0.18921	0.220000	0.23810	0.014000	0.08584	0.013000	0.13310	0.039000	0.15632	-0.150000	0.13652	AGC	AURKA	-	NULL	ENSG00000087586		0.483	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	246	0.00	0	C	NM_003600		54961339	54961339	-1	no_errors	ENST00000312783	ensembl	human	known	69_37n	missense	179	21.49	49	SNP	0.002	T
AXIN2	8313	genome.wustl.edu	37	17	63554687	63554687	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:63554687G>A	ENST00000375702.5	-	1	160	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.R18C			Q9Y2T1	AXIN2_HUMAN	axin 2	18					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCATCCTCACGGAAGCTGCTG	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													dbGAP											0													29.0	34.0	32.0					17																	63554687		2200	4298	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.52C>T	17.37:g.63554687G>A	ENSP00000364854:p.Arg18Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R18C	ENST00000375702.5	37	c.52		17	.	.	.	.	.	.	.	.	.	.	G	9.115	1.007640	0.19199	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.78246	-0.16;-1.16;-0.16	4.74	3.7	0.42460	.	0.121727	0.51477	D	0.000091	T	0.80088	0.4559	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.63880	0.993;0.973;0.993	P;P;P	0.52758	0.708;0.483;0.708	T	0.81322	-0.0985	10	0.59425	D	0.04	-10.5472	9.4441	0.38686	0.0:0.0:0.5679:0.4321	.	18;18;18	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	C	18	ENSP00000302625:R18C;ENSP00000441151:R18C;ENSP00000364854:R18C	ENSP00000302625:R18C	R	-	1	0	AXIN2	60985149	0.999000	0.42202	0.995000	0.50966	0.571000	0.35966	1.936000	0.40183	2.163000	0.67991	0.561000	0.74099	CGT	AXIN2	-	NULL	ENSG00000168646		0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	46	0.00	0	G	NM_004655		63554687	63554687	-1	no_errors	ENST00000307078	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	A
AXL	558	genome.wustl.edu	37	19	41744480	41744480	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:41744480A>G	ENST00000301178.4	+	8	1290	c.1100A>G	c.(1099-1101)tAc>tGc	p.Y367C	AXL_ENST00000359092.3_Missense_Mutation_p.Y367C|AXL_ENST00000593513.1_Missense_Mutation_p.Y99C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	367	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTGTTAGGGTACCGGCTGGCG	0.637																																						dbGAP											0													17.0	20.0	19.0					19																	41744480		2203	4297	6500	-	-	-	SO:0001583	missense	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1100A>G	19.37:g.41744480A>G	ENSP00000301178:p.Tyr367Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y367C	ENST00000301178.4	37	c.1100	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	a	17.48	3.400612	0.62177	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.81330	-1.48;-1.48	4.36	4.36	0.52297	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.081722	0.50627	D	0.000104	D	0.90865	0.7130	M	0.92784	3.345	0.40282	D	0.978403	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.92691	0.6166	10	0.87932	D	0	-11.9863	11.1534	0.48473	1.0:0.0:0.0:0.0	.	367;367	P30530-2;P30530	.;UFO_HUMAN	C	367	ENSP00000301178:Y367C;ENSP00000351995:Y367C	ENSP00000301178:Y367C	Y	+	2	0	AXL	46436320	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.841000	0.48223	1.828000	0.53243	0.247000	0.18012	TAC	AXL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000167601		0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	28	0.00	0	A			41744480	41744480	+1	no_errors	ENST00000301178	ensembl	human	known	69_37n	missense	27	15.15	5	SNP	1.000	G
AZIN1	51582	genome.wustl.edu	37	8	103851050	103851050	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:103851050G>A	ENST00000337198.5	-	5	1534	c.371C>T	c.(370-372)gCa>gTa	p.A124V	AZIN1_ENST00000347770.4_Missense_Mutation_p.A124V|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	124					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCCAACTTTTGCTGCATACTT	0.353																																						dbGAP											0													147.0	131.0	136.0					8																	103851050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.371C>T	8.37:g.103851050G>A	ENSP00000337180:p.Ala124Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.A124V	ENST00000337198.5	37	c.371	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.628350	0.96671	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.44482	0.92;0.92	5.07	5.07	0.68467	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74907	-0.3504	10	0.66056	D	0.02	-10.3461	18.812	0.92061	0.0:0.0:1.0:0.0	.	124	O14977	AZIN1_HUMAN	V	124	ENSP00000337180:A124V;ENSP00000321507:A124V	ENSP00000337180:A124V	A	-	2	0	AZIN1	103920226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.719000	0.98760	2.534000	0.85438	0.655000	0.94253	GCA	AZIN1	-	pfam_De-COase2_N,prints_Orn_de-COase	ENSG00000155096		0.353	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	90	0.00	0	G			103851050	103851050	-1	no_errors	ENST00000337198	ensembl	human	known	69_37n	missense	43	65.32	81	SNP	1.000	A
BACH1	571	genome.wustl.edu	37	21	30699365	30699365	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:30699365G>A	ENST00000399921.1	+	3	1463	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N	BACH1_ENST00000286800.3_Missense_Mutation_p.S407N	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GACATTTGCAGCACGGACACT	0.502																																						dbGAP											0													73.0	67.0	69.0					21																	30699365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1220G>A	21.37:g.30699365G>A	ENSP00000382805:p.Ser407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S407N	ENST00000399921.1	37	c.1220	CCDS13585.1	21	.	.	.	.	.	.	.	.	.	.	G	2.937	-0.219847	0.06061	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.74526	-0.85;-0.85	5.38	1.29	0.21616	.	0.189193	0.47852	N	0.000214	T	0.49745	0.1575	N	0.14661	0.345	0.36918	D	0.891259	B	0.06786	0.001	B	0.08055	0.003	T	0.28106	-1.0054	10	0.20046	T	0.44	-5.3094	5.5635	0.17157	0.3024:0.1314:0.5663:0.0	.	407	O14867	BACH1_HUMAN	N	407	ENSP00000286800:S407N;ENSP00000382805:S407N	ENSP00000286800:S407N	S	+	2	0	BACH1	29621236	0.151000	0.22747	0.972000	0.41901	0.303000	0.27691	0.216000	0.17585	0.336000	0.23639	0.655000	0.94253	AGC	BACH1	-	NULL	ENSG00000156273		0.502	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	229	0.00	0	G	NM_206866		30699365	30699365	+1	no_errors	ENST00000286800	ensembl	human	known	69_37n	missense	196	15.15	35	SNP	0.996	A
BAX	581	genome.wustl.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs|BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)											59.0	57.0	57.0					19																	49458971		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	44	0.00	0	G	NM_138763		49458971	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_del	32	15.38	6	DEL	0.588	-
BAX	581	genome.wustl.edu	37	19	49459481	49459481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49459481delC	ENST00000345358.7	+	4	312	c.260delC	c.(259-261)tccfs	p.S87fs	BAX_ENST00000354470.3_Frame_Shift_Del_p.S38fs|BAX_ENST00000539787.1_Frame_Shift_Del_p.S87fs|BAX_ENST00000415969.2_Frame_Shift_Del_p.S87fs|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000293288.8_Frame_Shift_Del_p.S87fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	87					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GACACAGACTCCCCCCGAGAG	0.577																																						dbGAP											0													72.0	79.0	77.0					19																	49459481		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.260delC	19.37:g.49459481delC	ENSP00000263262:p.Ser87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.R89fs	ENST00000345358.7	37	c.260	CCDS12742.1	19																																																																																			BAX	-	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis	ENSG00000087088		0.577	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	72	0.00	0	C	NM_138763		49459481	49459481	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_del	32	34.00	17	DEL	1.000	-
BBX	56987	genome.wustl.edu	37	3	107517499	107517499	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:107517499G>T	ENST00000325805.8	+	16	2770	c.2483G>T	c.(2482-2484)aGg>aTg	p.R828M	BBX_ENST00000406780.1_Missense_Mutation_p.R798M|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000415149.2_Missense_Mutation_p.R798M|BBX_ENST00000416476.2_Nonsense_Mutation_p.G492*|BBX_ENST00000402543.1_Missense_Mutation_p.R778M			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	828					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAAAGCAAGGAAAACCAAG	0.468																																						dbGAP											0													102.0	100.0	100.0					3																	107517499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2483G>T	3.37:g.107517499G>T	ENSP00000319974:p.Arg828Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G492*	ENST00000325805.8	37	c.1474	CCDS46881.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	7.982792|7.982792|7.982792	0.98594|0.98594|0.98594	.|.|.	.|.|.	ENSG00000114439|ENSG00000114439|ENSG00000114439	ENST00000416476|ENST00000443253|ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347	.|.|T;D;T;T	.|.|0.99591	.|.|1.36;-6.24;1.54;1.36	5.96|5.96|5.96	5.96|5.96|5.96	0.96718|0.96718|0.96718	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|D|D	.|0.99342|0.99342	.|0.9769|0.9769	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.58432|0.58432|0.58432	D|D|D	0.99999|0.99999|0.99999	.|.|D;D	.|.|0.89917	.|.|1.0;0.998	.|.|D;D	.|.|0.91635	.|.|0.999;0.992	.|D|D	.|0.99882|0.99882	.|1.1115|1.1115	.|5|10	0.87932|.|0.87932	D|.|D	0|.|0	-17.4331|-17.4331|-17.4331	20.4008|20.4008|20.4008	0.98991|0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|828;798	.|.|Q8WY36;Q8WY36-2	.|.|BBX_HUMAN;.	X|N|M	492|73|798;778;828;798;21	.|.|ENSP00000408358:R798M;ENSP00000385317:R778M;ENSP00000319974:R828M;ENSP00000385530:R798M	ENSP00000403860:G492X|.|ENSP00000319974:R828M	G|K|R	+|+|+	1|3|2	0|2|0	BBX|BBX|BBX	109000189|109000189|109000189	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	8.218000|8.218000|8.218000	0.89768|0.89768|0.89768	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGA|AAG|AGG	BBX	-	NULL	ENSG00000114439		0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	116	0.00	0	G	NM_020235		107517499	107517499	+1	no_errors	ENST00000416476	ensembl	human	putative	69_37n	nonsense	104	14.75	18	SNP	1.000	T
BCL3	602	genome.wustl.edu	37	19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gacfs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL																																	dbGAP		Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													185.0	200.0	195.0					19																	45262737		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1230delC	19.37:g.45262737delC	ENSP00000164227:p.Asp410fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P412fs	ENST00000164227.5	37	c.1230	CCDS12642.2	19																																																																																			BCL3	-	NULL	ENSG00000069399		0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	111	0.00	0	C	NM_005178		45262737	45262737	+1	no_errors	ENST00000164227	ensembl	human	known	69_37n	frame_shift_del	67	19.05	16	DEL	0.183	-
BCOR	54880	genome.wustl.edu	37	X	39923729	39923729	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:39923729G>A	ENST00000378444.4	-	7	3590	c.3362C>T	c.(3361-3363)gCc>gTc	p.A1121V	BCOR_ENST00000378463.1_5'UTR|BCOR_ENST00000397354.3_Missense_Mutation_p.A1121V|BCOR_ENST00000342274.4_Missense_Mutation_p.A1121V|BCOR_ENST00000378455.4_Missense_Mutation_p.A1103V	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1121					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATGTCCGAGGCCACCTGGTC	0.607			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59.0	54.0	56.0					X																	39923729		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3362C>T	X.37:g.39923729G>A	ENSP00000367705:p.Ala1121Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1121V	ENST00000378444.4	37	c.3362	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	8.154	0.788029	0.16258	.	.	ENSG00000183337	ENST00000413905;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91	5.63	4.75	0.60458	.	.	.	.	.	T	0.06508	0.0167	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.12837	0.008;0.002;0.004	T	0.40515	-0.9559	9	0.19590	T	0.45	-11.025	10.0167	0.42018	0.0973:0.0:0.9027:0.0	.	1103;1121;1121	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	V	25;1103;1121;1121;1121;1121	ENSP00000408006:A25V;ENSP00000367716:A1103V;ENSP00000380512:A1121V;ENSP00000367705:A1121V;ENSP00000345923:A1121V;ENSP00000384485:A1121V	ENSP00000345923:A1121V	A	-	2	0	BCOR	39808673	0.309000	0.24518	0.009000	0.14445	0.142000	0.21351	4.123000	0.57917	1.129000	0.42072	0.529000	0.55759	GCC	BCOR	-	NULL	ENSG00000183337		0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	46	0.00	0	G	NM_017745		39923729	39923729	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	16	37.04	10	SNP	0.040	A
BCORL1	63035	genome.wustl.edu	37	X	129158975	129158975	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:129158975T>C	ENST00000218147.7	+	7	3896	c.3699T>C	c.(3697-3699)tgT>tgC	p.C1233C	BCORL1_ENST00000540052.1_Silent_p.C1233C|BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Silent_p.C1233C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1233					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAAGCATCTGTAGCTCCTTTG	0.517																																						dbGAP											0													158.0	149.0	152.0					X																	129158975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3699T>C	X.37:g.129158975T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.C1233	ENST00000218147.7	37	c.3699	CCDS14616.1	X																																																																																			BCORL1	-	NULL	ENSG00000085185		0.517	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	247	0.00	0	T	NM_021946		129158975	129158975	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	silent	113	31.93	53	SNP	0.967	C
BDNF	627	genome.wustl.edu	37	11	27679478	27679478	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:27679478G>T	ENST00000525528.1	-	1	1727	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	BDNF_ENST00000395978.3_Missense_Mutation_p.Q212K|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.Q212K|BDNF_ENST00000395981.3_Missense_Mutation_p.Q212K|BDNF_ENST00000532997.1_Missense_Mutation_p.Q212K|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.Q212K|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000420794.1_Missense_Mutation_p.Q212K|BDNF_ENST00000418212.1_Missense_Mutation_p.Q212K|BDNF_ENST00000533246.1_Missense_Mutation_p.Q212K|BDNF_ENST00000395980.2_Missense_Mutation_p.Q212K|BDNF_ENST00000395986.2_Missense_Mutation_p.Q227K|BDNF_ENST00000439476.2_Missense_Mutation_p.Q212K|BDNF_ENST00000314915.6_Missense_Mutation_p.Q220K|BDNF_ENST00000438929.1_Missense_Mutation_p.Q294K|BDNF_ENST00000395983.3_Missense_Mutation_p.Q212K|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.Q212K|BDNF_ENST00000525950.1_Missense_Mutation_p.Q212K	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	212					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						ACGTACGACTGGGTAGTTCGG	0.468																																						dbGAP											0													156.0	156.0	156.0					11																	27679478		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.634C>A	11.37:g.27679478G>T	ENSP00000437138:p.Gln212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel	p.Q294K	ENST00000525528.1	37	c.880	CCDS7866.1	11	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033123	0.35893	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.86	5.86	0.93980	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.71581	2.175	0.80722	D	1	D;D;P;P;P	0.63880	0.961;0.993;0.809;0.94;0.926	D;D;P;P;P	0.68353	0.957;0.921;0.778;0.858;0.778	T	0.82563	-0.0395	10	0.87932	D	0	-18.098	20.1858	0.98214	0.0:0.0:1.0:0.0	.	241;294;220;212;227	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	K	212;212;227;212;212;212;212;212;212;294;212;212;212;212;212;220;212;164	ENSP00000389345:Q212K;ENSP00000437138:Q212K;ENSP00000379309:Q227K;ENSP00000432727:Q212K;ENSP00000349084:Q212K;ENSP00000400502:Q212K;ENSP00000432376:Q212K;ENSP00000435564:Q212K;ENSP00000379307:Q212K;ENSP00000414303:Q294K;ENSP00000379304:Q212K;ENSP00000435805:Q212K;ENSP00000379305:Q212K;ENSP00000379302:Q212K;ENSP00000432035:Q212K;ENSP00000320002:Q220K;ENSP00000389564:Q212K	ENSP00000320002:Q220K	Q	-	1	0	BDNF	27636054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.777000	0.95525	0.591000	0.81541	CAG	BDNF	-	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel	ENSG00000176697		0.468	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1	294	0.00	0	G	NM_170735		27679478	27679478	-1	no_errors	ENST00000438929	ensembl	human	known	69_37n	missense	229	20.49	59	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32602710	32602710	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:32602710T>C	ENST00000421745.2	+	2	514	c.380T>C	c.(379-381)aTa>aCa	p.I127T	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	127					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATAAAGTTATATTTGTGGAT	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													164.0	154.0	158.0					2																	32602710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.380T>C	2.37:g.32602710T>C	ENSP00000393596:p.Ile127Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.I127T	ENST00000421745.2	37	c.380	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389345	0.61956	.	.	ENSG00000115760	ENST00000421745	T	0.76060	-0.99	4.56	4.56	0.56223	.	0.276335	0.34932	N	0.003579	T	0.58850	0.2151	N	0.22421	0.69	0.46849	D	0.999224	B	0.33694	0.421	B	0.21360	0.034	T	0.64976	-0.6280	10	0.87932	D	0	.	14.2083	0.65748	0.0:0.0:0.0:1.0	.	127	Q9NR09	BIRC6_HUMAN	T	127	ENSP00000393596:I127T	ENSP00000393596:I127T	I	+	2	0	BIRC6	32456214	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.932000	0.87634	1.806000	0.52798	0.533000	0.62120	ATA	BIRC6	-	superfamily_WD40_repeat_dom	ENSG00000115760		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	126	0.00	0	T	NM_016252		32602710	32602710	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	113	39.57	74	SNP	1.000	C
BLM	641	genome.wustl.edu	37	15	91354518	91354518	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:91354518C>T	ENST00000355112.3	+	21	4076	c.3958C>T	c.(3958-3960)Ccc>Tcc	p.P1320S	BLM_ENST00000560509.1_Missense_Mutation_p.P1189S|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1320					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CGAGGAAATACCCGTATCTTC	0.498			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													dbGAP	yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0													79.0	79.0	79.0					15																	91354518		2198	4298	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3958C>T	15.37:g.91354518C>T	ENSP00000347232:p.Pro1320Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.P1320S	ENST00000355112.3	37	c.3958	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	C	0.471	-0.884395	0.02530	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.40476	1.03	5.78	2.81	0.32909	.	0.752971	0.12881	N	0.431466	T	0.25044	0.0608	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.28839	-1.0031	10	0.08837	T	0.75	-6.4541	8.8995	0.35485	0.0:0.7262:0.1249:0.1488	.	1320;1320	B2RAN0;P54132	.;BLM_HUMAN	S	1320;950;507	ENSP00000347232:P1320S	ENSP00000347232:P1320S	P	+	1	0	BLM	89155522	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.032000	0.12266	0.148000	0.19059	-0.797000	0.03246	CCC	BLM	-	NULL	ENSG00000197299		0.498	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	84	0.00	0	C			91354518	91354518	+1	no_errors	ENST00000355112	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	0.000	T
BMP3	651	genome.wustl.edu	37	4	81974652	81974652	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:81974652T>C	ENST00000282701.2	+	3	1701	c.1381T>C	c.(1381-1383)Tac>Cac	p.Y461H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	461					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCTTAAAGTATACCCTAACAT	0.373																																						dbGAP											0													109.0	117.0	114.0					4																	81974652		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.1381T>C	4.37:g.81974652T>C	ENSP00000282701:p.Tyr461His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.Y461H	ENST00000282701.2	37	c.1381	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449586	0.84101	.	.	ENSG00000152785	ENST00000282701;ENST00000395581	T	0.64618	-0.11	5.83	5.83	0.93111	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.68728	2.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80286	-0.1446	10	0.87932	D	0	.	15.8656	0.79063	0.0:0.0:0.0:1.0	.	461	P12645	BMP3_HUMAN	H	461;59	ENSP00000282701:Y461H	ENSP00000282701:Y461H	Y	+	1	0	BMP3	82193676	1.000000	0.71417	0.985000	0.45067	0.907000	0.53573	7.671000	0.83941	2.219000	0.72066	0.533000	0.62120	TAC	BMP3	-	pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10	ENSG00000152785		0.373	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	140	0.00	0	T			81974652	81974652	+1	no_errors	ENST00000282701	ensembl	human	known	69_37n	missense	106	35.76	59	SNP	0.999	C
BMS1	9790	genome.wustl.edu	37	10	43292515	43292515	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:43292515A>T	ENST00000374518.5	+	10	1886	c.1823A>T	c.(1822-1824)gAa>gTa	p.E608V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	608					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACTCAGAAAATGAAGAG	0.443																																						dbGAP											0													57.0	60.0	59.0					10																	43292515		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1823A>T	10.37:g.43292515A>T	ENSP00000363642:p.Glu608Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN	p.E608V	ENST00000374518.5	37	c.1823	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	a	4.975	0.181022	0.09443	.	.	ENSG00000165733	ENST00000374518	T	0.26373	1.74	4.79	1.11	0.20524	.	0.367561	0.32301	N	0.006292	T	0.13286	0.0322	N	0.22421	0.69	0.30875	N	0.732061	B	0.28713	0.22	B	0.21708	0.036	T	0.08452	-1.0721	10	0.48119	T	0.1	.	5.8108	0.18465	0.7062:0.1421:0.1518:0.0	.	608	Q14692	BMS1_HUMAN	V	608	ENSP00000363642:E608V	ENSP00000363642:E608V	E	+	2	0	BMS1	42612521	1.000000	0.71417	0.031000	0.17742	0.324000	0.28378	2.312000	0.43726	0.279000	0.22186	-0.490000	0.04691	GAA	BMS1	-	NULL	ENSG00000165733		0.443	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	321	0.00	0	A	NM_014753		43292515	43292515	+1	no_errors	ENST00000374518	ensembl	human	known	69_37n	missense	183	42.50	136	SNP	0.522	T
BMS1P5	399761	genome.wustl.edu	37	10	48944573	48944573	+	RNA	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:48944573G>T	ENST00000449800.1	-	0	543					NR_003611.2				BMS1 pseudogene 5																		GTGCTTGACAGATGTTTAGAA	0.393																																						dbGAP											0																																										-	-	-			0					10q11.22	2013-05-22	2007-03-20	2007-03-20	ENSG00000204164				23653	pseudogene	pseudogene			"""BMS1L pseudogene 5"""	BMS1LP5			Standard	NR_003611		Approved	bA508M1.1, OTTHUMG00000018157			OTTHUMG00000018157		10.37:g.48944573G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000449800.1	37	NULL		10																																																																																			RP11-508M1.3	-	-	ENSG00000204164		0.393	BMS1P5-002	KNOWN	basic	processed_transcript	BMS1P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000047906.1	22	0.00	0	G			48944573	48944573	-1	no_errors	ENST00000449800	ensembl	human	known	69_37n	rna	14	33.33	7	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13606000	13606000	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:13606000A>T	ENST00000040738.5	-	10	2659	c.2524T>A	c.(2524-2526)Tca>Aca	p.S842T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	842	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GACCTTCTTGATTTGTGCTCT	0.338																																						dbGAP											0													110.0	108.0	109.0					4																	13606000		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2524T>A	4.37:g.13606000A>T	ENSP00000040738:p.Ser842Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.S842T	ENST00000040738.5	37	c.2524	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747070	0.49257	.	.	ENSG00000038219	ENST00000040738	T	0.11169	2.8	5.06	5.06	0.68205	.	0.000000	0.34555	N	0.003868	T	0.12220	0.0297	M	0.63843	1.955	0.26195	N	0.979527	P	0.37330	0.59	B	0.33196	0.159	T	0.15809	-1.0424	10	0.42905	T	0.14	-5.0651	11.202	0.48747	0.8627:0.0:0.0:0.1373	.	842	Q8NFC6	BOD1L_HUMAN	T	842	ENSP00000040738:S842T	ENSP00000040738:S842T	S	-	1	0	BOD1L	13215098	0.997000	0.39634	1.000000	0.80357	0.612000	0.37316	3.186000	0.50942	1.897000	0.54924	0.455000	0.32223	TCA	BOD1L1	-	NULL	ENSG00000038219		0.338	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	56	0.00	0	A	NM_148894		13606000	13606000	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	missense	39	40.30	27	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13617087	13617087	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:13617087A>G	ENST00000040738.5	-	3	543	c.408T>C	c.(406-408)tcT>tcC	p.S136S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	136						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCACAACCTGAGAAATAATTC	0.373																																						dbGAP											0													118.0	117.0	117.0					4																	13617087		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.408T>C	4.37:g.13617087A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.S136	ENST00000040738.5	37	c.408	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.373	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	200	0.00	0	A	NM_148894		13617087	13617087	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	silent	163	14.66	28	SNP	1.000	G
BPIFB4	149954	genome.wustl.edu	37	20	31671214	31671214	+	Frame_Shift_Del	DEL	C	C	-	rs139974951	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:31671214delC	ENST00000375483.3	+	3	211	c.211delC	c.(211-213)cccfs	p.P73fs		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	73						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V35fs*9(1)									TGTCCGAGGACCCCCCCCAGT	0.493																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)											87.0	85.0	86.0					20																	31671214		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.211delC	20.37:g.31671214delC	ENSP00000364632:p.Pro73fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDX6	Frame_Shift_Del	DEL	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P73fs	ENST00000375483.3	37	c.211	CCDS13213.2	20																																																																																			BPIFB4	-	NULL	ENSG00000186191		0.493	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	139	0.71	1	C	NM_182519		31671214	31671214	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	frame_shift_del	146	12.50	21	DEL	0.030	-
BPIFB1	92747	genome.wustl.edu	37	20	31885362	31885362	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:31885362G>C	ENST00000253354.1	+	7	790	c.629G>C	c.(628-630)gGc>gCc	p.G210A		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	210					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCCTTCAATGGCATGTATGCA	0.592																																						dbGAP											0													212.0	171.0	184.0					20																	31885362		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.629G>C	20.37:g.31885362G>C	ENSP00000253354:p.Gly210Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.G210A	ENST00000253354.1	37	c.629	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017457	0.19355	.	.	ENSG00000125999	ENST00000253354	T	0.04406	3.63	4.92	2.49	0.30216	.	0.266028	0.32918	N	0.005489	T	0.02533	0.0077	N	0.08118	0	0.19775	N	0.999958	B;B	0.14805	0.011;0.011	B;B	0.15870	0.014;0.014	T	0.43925	-0.9361	10	0.37606	T	0.19	-18.4647	6.8171	0.23837	0.8035:0.0:0.1965:0.0	.	210;210	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	A	210	ENSP00000253354:G210A	ENSP00000253354:G210A	G	+	2	0	BPIFB1	31349023	0.784000	0.28713	0.977000	0.42913	0.272000	0.26649	2.472000	0.45136	0.412000	0.25729	-0.459000	0.05422	GGC	BPIFB1	-	superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	ENSG00000125999		0.592	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	199	0.00	0	G	NM_033197		31885362	31885362	+1	no_errors	ENST00000253354	ensembl	human	known	69_37n	missense	164	16.75	33	SNP	0.983	C
ACAD10	80724	genome.wustl.edu	37	12	112121100	112121100	+	5'Flank	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:112121100A>C	ENST00000313698.4	+	0	0				BRAP_ENST00000327551.6_Missense_Mutation_p.S2A|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000392636.2_5'Flank|BRAP_ENST00000419234.4_Missense_Mutation_p.S32A|BRAP_ENST00000539060.1_5'Flank|ACAD10_ENST00000455480.2_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TCCTCATCAGACATTTCCCCG	0.408																																						dbGAP											0													171.0	154.0	160.0					12																	112121100		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112121100A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.S32A	ENST00000313698.4	37	c.94	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489295	0.44249	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.47177	0.91;0.85	5.44	5.44	0.79542	.	0.057512	0.64402	D	0.000001	T	0.39462	0.1079	L	0.33485	1.01	0.80722	D	1	B	0.20261	0.043	B	0.19391	0.025	T	0.19712	-1.0297	10	0.45353	T	0.12	-10.1844	14.4485	0.67370	1.0:0.0:0.0:0.0	.	32	Q7Z569	BRAP_HUMAN	A	32;2	ENSP00000403524:S32A;ENSP00000330813:S2A	ENSP00000330813:S2A	S	-	1	0	BRAP	110605483	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.914000	0.69964	2.062000	0.61559	0.402000	0.26972	TCT	BRAP	-	NULL	ENSG00000089234		0.408	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000368307.1	200	0.00	0	A	NM_025247		112121100	112121100	-1	no_errors	ENST00000419234	ensembl	human	known	69_37n	missense	71	42.86	54	SNP	1.000	C
BRD9	65980	genome.wustl.edu	37	5	876276	876276	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:876276G>A	ENST00000467963.1	-	12	1489	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D	BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000388890.4_Silent_p.D325D|BRD9_ENST00000323510.4_Silent_p.D345D|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000483173.1_Silent_p.D388D	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	441					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.D441D(1)|p.D345D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCAGGAGGTCGTCCACCACTT	0.627																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											112.0	89.0	97.0					5																	876276		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1323C>T	5.37:g.876276G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Nonsense_Mutation	SNP	pfam_DUF3512	p.R15*	ENST00000467963.1	37	c.43	CCDS34127.2	5																																																																																			BRD9	-	pfam_DUF3512	ENSG00000028310		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	27	0.00	0	G	NM_023924		876276	876276	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523139	ensembl	human	known	69_37n	nonsense	28	28.21	11	SNP	0.804	A
BRIP1	83990	genome.wustl.edu	37	17	59926562	59926562	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:59926562G>T	ENST00000259008.2	-	5	702	c.435C>A	c.(433-435)tcC>tcA	p.S145S	BRIP1_ENST00000577598.1_Silent_p.S145S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCTGTATATGGATGCCTGTT	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													135.0	132.0	133.0					17																	59926562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.435C>A	17.37:g.59926562G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE2|Q8NCI5	Silent	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S145	ENST00000259008.2	37	c.435	CCDS11631.1	17																																																																																			BRIP1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3	ENSG00000136492		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	240	0.00	0	G	NM_032043		59926562	59926562	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	silent	230	11.88	31	SNP	0.000	T
BTN2A2	10385	genome.wustl.edu	37	6	26385556	26385556	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:26385556C>A	ENST00000356709.4	+	3	519	c.408C>A	c.(406-408)tcC>tcA	p.S136S	BTN2A2_ENST00000469230.1_Silent_p.S136S|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000416795.2_Silent_p.S136S|BTN2A2_ENST00000432533.2_Silent_p.S136S|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	136	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						AAGGCAGGTCCTACGATGAGG	0.502																																						dbGAP											0													96.0	79.0	85.0					6																	26385556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.408C>A	6.37:g.26385556C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.S136	ENST00000356709.4	37	c.408	CCDS4606.1	6																																																																																			BTN2A2	-	smart_Ig_sub	ENSG00000124508		0.502	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	125	0.00	0	C			26385556	26385556	+1	no_errors	ENST00000356709	ensembl	human	known	69_37n	silent	88	20.00	22	SNP	0.785	A
BTN2A2	10385	genome.wustl.edu	37	6	26390265	26390265	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:26390265G>A	ENST00000356709.4	+	5	868	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	BTN2A2_ENST00000469230.1_Missense_Mutation_p.V253M|BTN2A2_ENST00000352867.2_Missense_Mutation_p.V137M|BTN2A2_ENST00000416795.2_Missense_Mutation_p.V253M|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V159M|BTN2A2_ENST00000482536.1_Missense_Mutation_p.V43M	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	253					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TCCCTGGATGGTGGCCCTAGC	0.493																																						dbGAP											0													156.0	149.0	151.0					6																	26390265		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.757G>A	6.37:g.26390265G>A	ENSP00000349143:p.Val253Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.V253M	ENST00000356709.4	37	c.757	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	15.61	2.885690	0.51908	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	3.04	1.02	0.19986	.	.	.	.	.	T	0.31040	0.0784	M	0.80508	2.5	0.20196	N	0.99993	D;D;P;D;D;P;P	0.89917	1.0;1.0;0.478;1.0;1.0;0.478;0.93	D;D;B;D;D;B;B	0.97110	0.999;0.999;0.056;0.999;1.0;0.056;0.434	T	0.06409	-1.0828	9	0.66056	D	0.02	.	4.525	0.11978	0.143:0.2302:0.6268:0.0	.	43;43;159;137;253;137;253	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	M	253;48;253;137;43;159;48;253;137	ENSP00000417472:V253M;ENSP00000418965:V48M;ENSP00000349143:V253M;ENSP00000337117:V137M;ENSP00000419451:V43M;ENSP00000394241:V159M;ENSP00000417676:V48M;ENSP00000399308:V253M;ENSP00000418176:V137M	ENSP00000337117:V137M	V	+	1	0	BTN2A2	26498244	0.992000	0.36948	0.104000	0.21259	0.423000	0.31445	0.921000	0.28718	0.064000	0.16427	0.467000	0.42956	GTG	BTN2A2	-	NULL	ENSG00000124508		0.493	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	322	0.00	0	G			26390265	26390265	+1	no_errors	ENST00000356709	ensembl	human	known	69_37n	missense	261	19.20	62	SNP	0.453	A
POPDC3	64208	genome.wustl.edu	37	6	105606911	105606911	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:105606911delA	ENST00000254765.3	-	4	873				BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				ACTTGATCTTAAAAAAAAAAA	0.323																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.595-285T>-	6.37:g.105606911delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA98|Q5T3Y8|Q8TBW6	RNA	DEL	-	NULL	ENST00000254765.3	37	NULL	CCDS5052.1	6																																																																																			BVES-AS1	-	-	ENSG00000203808		0.323	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BVES-AS1	HGNC	protein_coding	OTTHUMT00000041651.1	11	0.00	0	A	NM_022361		105606911	105606911	+1	no_errors	ENST00000369120	ensembl	human	known	69_37n	rna	1	60.00	6	DEL	0.000	-
C11orf30	56946	genome.wustl.edu	37	11	76261113	76261113	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:76261113A>G	ENST00000529032.1	+	20	3892	c.3892A>G	c.(3892-3894)Atg>Gtg	p.M1298V	C11orf30_ENST00000525919.1_Missense_Mutation_p.M1299V|C11orf30_ENST00000343878.3_Missense_Mutation_p.M1131V|C11orf30_ENST00000525038.1_Missense_Mutation_p.M1299V|C11orf30_ENST00000524767.1_Missense_Mutation_p.M1313V|C11orf30_ENST00000334736.3_Missense_Mutation_p.M1298V|C11orf30_ENST00000524490.1_Missense_Mutation_p.M1200V|C11orf30_ENST00000533248.1_Missense_Mutation_p.M1207V			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1298					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAGACAGCAATGGAGCAGGA	0.507																																						dbGAP											0													115.0	107.0	110.0					11																	76261113		2200	4292	6492	-	-	-	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3892A>G	11.37:g.76261113A>G	ENSP00000432327:p.Met1298Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.M1298V	ENST00000529032.1	37	c.3892	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951117	0.34471	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.18	2.82	0.32997	.	0.127631	0.64402	D	0.000001	T	0.16642	0.0400	N	0.12182	0.205	0.24253	N	0.995311	B;B;B;B;B;B	0.18741	0.03;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.15870	0.014;0.0;0.0;0.0;0.0;0.0	T	0.09250	-1.0683	9	0.45353	T	0.12	-4.725	2.9512	0.05862	0.6127:0.1274:0.1472:0.1127	.	1207;1299;1313;1299;1200;1298	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	V	1200;1298;1131;980;1313;1207;1299;1299;1298;271	.	ENSP00000334130:M1298V	M	+	1	0	C11orf30	75938761	1.000000	0.71417	0.963000	0.40424	0.995000	0.86356	3.622000	0.54217	1.006000	0.39211	0.528000	0.53228	ATG	C11orf30	-	NULL	ENSG00000158636		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	124	0.00	0	A	NM_020193		76261113	76261113	+1	no_errors	ENST00000334736	ensembl	human	known	69_37n	missense	86	17.31	18	SNP	0.850	G
C12orf5	57103	genome.wustl.edu	37	12	4459055	4459055	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:4459055G>A	ENST00000179259.4	+	4	330	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	88					intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410)	intracellular (GO:0005622)	fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			TCAAGACTTCGGGAAAGGGTG	0.353																																					Colon(1;100 192 35375 49454 52532)	dbGAP											0													86.0	88.0	87.0					12																	4459055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ272206	CCDS8525.1	12p13.32	2014-05-29	2009-11-24	2009-11-24	ENSG00000078237	ENSG00000078237	3.1.3.46		1185	protein-coding gene	gene with protein product	"""TP53-induced glycolysis and apoptosis regulator"""	610775				16140933, 16839880, 18945750, 19713938	Standard	NM_020375		Approved	TIGAR	uc001qmp.3	Q9NQ88		ENST00000179259.4:c.263G>A	12.37:g.4459055G>A	ENSP00000179259:p.Arg88Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R840	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	p.R88Q	ENST00000179259.4	37	c.263	CCDS8525.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354722	0.82243	.	.	ENSG00000078237	ENST00000179259	T	0.74315	-0.83	4.58	4.58	0.56647	Histidine phosphatase superfamily, clade-1 (2);	0.060855	0.64402	D	0.000004	D	0.85375	0.5682	M	0.75777	2.31	0.46096	D	0.998866	D	0.89917	1.0	D	0.80764	0.994	D	0.84417	0.0569	10	0.35671	T	0.21	-14.6441	17.9219	0.88969	0.0:0.0:1.0:0.0	.	88	Q9NQ88	TIGAR_HUMAN	Q	88	ENSP00000179259:R88Q	ENSP00000179259:R88Q	R	+	2	0	C12orf5	4329316	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	6.322000	0.72886	2.536000	0.85505	0.655000	0.94253	CGG	C12orf5	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1	ENSG00000078237		0.353	C12orf5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf5	HGNC	protein_coding	OTTHUMT00000398290.1	168	0.00	0	G	NM_020375		4459055	4459055	+1	no_errors	ENST00000179259	ensembl	human	known	69_37n	missense	164	19.12	39	SNP	1.000	A
ELMSAN1	91748	genome.wustl.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)cccfs	p.P313fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TATCTGGGTTGGGGGGGAAGG	0.662																																						dbGAP											0													21.0	22.0	22.0					14																	74205773		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.939delC	14.37:g.74205773delG	ENSP00000286523:p.Pro313fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.N314fs	ENST00000286523.5	37	c.939	CCDS9819.1	14																																																																																			C14orf43	-	NULL	ENSG00000156030		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	24	0.00	0	G	NM_194278		74205773	74205773	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.000	-
C16orf62	57020	genome.wustl.edu	37	16	19710827	19710827	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:19710827C>A	ENST00000251143.5	+	30	2662	c.2650C>A	c.(2650-2652)Ctg>Atg	p.L884M	C16orf62_ENST00000542263.1_Missense_Mutation_p.L880M|C16orf62_ENST00000417362.2_Missense_Mutation_p.L791M|C16orf62_ENST00000448695.1_Missense_Mutation_p.L734M|C16orf62_ENST00000543152.1_Missense_Mutation_p.L633M|C16orf62_ENST00000438132.3_Missense_Mutation_p.L973M			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	884						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GTTTCAGGCCCTGAAGCGCCA	0.582																																						dbGAP											0													85.0	75.0	78.0					16																	19710827		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2650C>A	16.37:g.19710827C>A	ENSP00000251143:p.Leu884Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.L973M	ENST00000251143.5	37	c.2917		16	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617092	0.46736	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.56	2.59	0.31030	.	0.496678	0.20401	N	0.093041	T	0.47544	0.1451	L	0.53249	1.67	0.38280	D	0.942393	D;P	0.54207	0.965;0.603	P;B	0.54312	0.748;0.386	T	0.44877	-0.9299	9	.	.	.	-12.8482	9.2526	0.37564	0.0:0.763:0.0:0.237	.	880;884	F5H7K1;Q7Z3J2	.;CP062_HUMAN	M	973;880;884;791;734	ENSP00000400815:L973M;ENSP00000442468:L880M;ENSP00000251143:L884M;ENSP00000395973:L791M;ENSP00000398009:L734M	.	L	+	1	2	C16orf62	19618328	0.645000	0.27286	1.000000	0.80357	0.912000	0.54170	0.412000	0.21131	0.467000	0.27218	-0.258000	0.10820	CTG	C16orf62	-	NULL	ENSG00000103544		0.582	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		63	0.00	0	C	NM_020314		19710827	19710827	+1	no_errors	ENST00000438132	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.997	A
C19orf12	83636	genome.wustl.edu	37	19	30193800	30193800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:30193800delG	ENST00000392278.2	-	3	404	c.278delC	c.(277-279)cctfs	p.P93fs	C19orf12_ENST00000323670.9_Frame_Shift_Del_p.P82fs|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392276.1_Frame_Shift_Del_p.P18fs|C19orf12_ENST00000592153.1_Frame_Shift_Del_p.P82fs	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	93					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TTGCTCGGCAGGGGGCAGCTC	0.602																																						dbGAP											0													82.0	82.0	82.0					19																	30193800		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.278delC	19.37:g.30193800delG	ENSP00000376103:p.Pro93fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Frame_Shift_Del	DEL	NULL	p.P93fs	ENST00000392278.2	37	c.278	CCDS42542.1	19																																																																																			C19orf12	-	NULL	ENSG00000131943		0.602	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	C19orf12	HGNC	protein_coding	OTTHUMT00000313509.2	63	0.00	0	G	NM_031448		30193800	30193800	-1	no_errors	ENST00000392278	ensembl	human	known	69_37n	frame_shift_del	47	30.43	21	DEL	0.800	-
C1R	715	genome.wustl.edu	37	12	7241528	7241528	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:7241528C>T	ENST00000542285.1	-	6	969	c.820G>A	c.(820-822)Gac>Aac	p.D274N	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	275	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGTCGAGGTCGGGGGGCCTT	0.547																																						dbGAP											0													17.0	18.0	18.0					12																	7241528		1906	4114	6020	-	-	-	SO:0001583	missense	0			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.820G>A	12.37:g.7241528C>T	ENSP00000438615:p.Asp274Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.D289N	ENST00000542285.1	37	c.865		12	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435298	0.25813	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285	T	0.18502	2.21	5.67	2.82	0.32997	CUB (5);	0.797880	0.11828	N	0.525526	T	0.10809	0.0264	.	.	.	0.09310	N	1	P;D;B	0.54397	0.713;0.966;0.075	B;B;B	0.40982	0.105;0.345;0.013	T	0.16100	-1.0414	9	0.21014	T	0.42	.	8.0033	0.30310	0.0:0.6487:0.1187:0.2326	.	241;289;275	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	N	275;289;241;289;274	ENSP00000438615:D274N	ENSP00000290575:D289N	D	-	1	0	C1R	7132669	0.000000	0.05858	0.002000	0.10522	0.982000	0.71751	0.095000	0.15127	0.753000	0.32945	0.561000	0.74099	GAC	C1R	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000159403		0.547	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		21	0.00	0	C	NM_001733		7241528	7241528	-1	no_errors	ENST00000290575	ensembl	human	known	69_37n	missense	12	62.16	23	SNP	0.000	T
C1R	715	genome.wustl.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-	rs189155429		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:7242010delG	ENST00000542285.1	-	5	793	c.644delC	c.(643-645)cctfs	p.P215fs	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	216	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P230fs*100(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCGCAGGTCAGGGGGGTAGGA	0.597																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											51.0	57.0	55.0					12																	7242010		2062	4194	6256	-	-	-	SO:0001589	frameshift_variant	0			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.644delC	12.37:g.7242010delG	ENSP00000438615:p.Pro215fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ8|Q68D77|Q8J012	Frame_Shift_Del	DEL	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.P230fs	ENST00000542285.1	37	c.689		12																																																																																			C1R	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000159403		0.597	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		121	0.00	0	G	NM_001733		7242010	7242010	-1	no_errors	ENST00000290575	ensembl	human	known	69_37n	frame_shift_del	87	24.58	29	DEL	0.019	-
C1orf168	199920	genome.wustl.edu	37	1	57185280	57185280	+	3'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:57185280G>A	ENST00000343433.6	-	0	2331					NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGATGTAACGCAGGACTAGG	0.348																																						dbGAP											0													236.0	185.0	201.0					1																	57185280		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.*64C>T	1.37:g.57185280G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HM3|Q6ZUY6	RNA	SNP	-	NULL	ENST00000343433.6	37	NULL	CCDS30729.1	1																																																																																			C1orf168	-	-	ENSG00000187889		0.348	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	54	0.00	0	G	NM_001004303		57185280	57185280	-1	no_errors	ENST00000493000	ensembl	human	known	69_37n	rna	38	20.83	10	SNP	0.000	A
C1orf56	54964	genome.wustl.edu	37	1	151020687	151020688	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:151020687_151020688delAG	ENST00000368926.5	+	1	472_473	c.364_365delAG	c.(364-366)agafs	p.R122fs		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	122						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TAGCACCAGCAGAGAGCTTCCC	0.559																																					GBM(146;891 3320 6873)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.364_365delAG	1.37:g.151020691_151020692delAG	ENSP00000357922:p.Arg122fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDU8|Q9NWZ4	Frame_Shift_Del	DEL	superfamily_Thrombospondin_1_rpt	p.E123fs	ENST00000368926.5	37	c.364_365	CCDS980.1	1																																																																																			C1orf56	-	NULL	ENSG00000143443		0.559	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1	99	0.00	0	AG	NM_017860		151020687	151020688	+1	no_errors	ENST00000368926	ensembl	human	known	69_37n	frame_shift_del	72	13.25	11	DEL	0.000:0.000	-
C1orf111	284680	genome.wustl.edu	37	1	162344286	162344286	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:162344286G>A	ENST00000367935.5	-	3	417	c.338C>T	c.(337-339)gCc>gTc	p.A113V	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	113										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GAAGTCATAGGCCTCCAGCTG	0.572																																						dbGAP											0													132.0	128.0	129.0					1																	162344286		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.338C>T	1.37:g.162344286G>A	ENSP00000356912:p.Ala113Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X961|Q8NEC3	Missense_Mutation	SNP	NULL	p.A113V	ENST00000367935.5	37	c.338	CCDS1238.1	1	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715327	0.15306	.	.	ENSG00000171722	ENST00000367935	T	0.33654	1.4	4.3	3.39	0.38822	.	0.614858	0.15513	N	0.258449	T	0.17195	0.0413	L	0.54323	1.7	0.27721	N	0.945121	B	0.13594	0.008	B	0.17433	0.018	T	0.06679	-1.0813	9	0.49607	T	0.09	-27.1555	9.2256	0.37405	0.1015:0.0:0.8985:0.0	.	113	Q5T0L3	CA111_HUMAN	V	113	ENSP00000356912:A113V	ENSP00000356912:A113V	A	-	2	0	C1orf111	160610910	0.018000	0.18449	0.428000	0.26697	0.000000	0.00434	1.361000	0.34136	1.029000	0.39812	-0.136000	0.14681	GCC	C1orf111	-	NULL	ENSG00000171722		0.572	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	129	0.00	0	G	NM_182581		162344286	162344286	-1	no_errors	ENST00000367935	ensembl	human	known	69_37n	missense	135	20.59	35	SNP	0.322	A
ZGRF1	55345	genome.wustl.edu	37	4	113539167	113539167	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:113539167T>C	ENST00000505019.1	-	6	2156	c.2031A>G	c.(2029-2031)ttA>ttG	p.L677L	C4orf21_ENST00000309071.5_Silent_p.L677L|C4orf21_ENST00000445203.2_Silent_p.L646L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		677						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TATTCGGGGGTAAAGCAAAAT	0.308																																						dbGAP											0													67.0	70.0	69.0					4																	113539167		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.2031A>G	4.37:g.113539167T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L677	ENST00000505019.1	37	c.2031		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.308	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	176	0.00	0	T			113539167	113539167	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	silent	162	14.74	28	SNP	0.000	C
C6orf165	154313	genome.wustl.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						dbGAP											0										30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	-	-	-	SO:0001589	frameshift_variant	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	pfam_DUF3508	p.N477fs	ENST00000507897.1	37	c.1423	CCDS34498.1	6																																																																																			C6orf165	-	pfam_DUF3508	ENSG00000213204		0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	HGNC	protein_coding	OTTHUMT00000470406.1	106	0.00	0	A	NM_178823		88144700	88144700	+1	no_errors	ENST00000369562	ensembl	human	known	69_37n	frame_shift_del	82	29.60	37	DEL	1.000	-
C8B	732	genome.wustl.edu	37	1	57415383	57415383	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:57415383A>G	ENST00000371237.4	-	6	775	c.709T>C	c.(709-711)Tac>Cac	p.Y237H	C8B_ENST00000535057.1_Missense_Mutation_p.Y175H|C8B_ENST00000543257.1_Missense_Mutation_p.Y185H	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	237	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAATCTGAGTATGATTCATAC	0.328																																						dbGAP											0													81.0	79.0	79.0					1																	57415383		2202	4299	6501	-	-	-	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.709T>C	1.37:g.57415383A>G	ENSP00000360281:p.Tyr237His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.Y237H	ENST00000371237.4	37	c.709	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814133	0.50527	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.29142	1.79;1.58;1.58	5.19	5.19	0.71726	Membrane attack complex component/perforin (MACPF) domain (1);	0.055486	0.85682	D	0.000000	T	0.56292	0.1975	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.986	T	0.56829	-0.7914	10	0.18276	T	0.48	-21.9335	15.3327	0.74226	1.0:0.0:0.0:0.0	.	185;175;237	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	H	237;185;175	ENSP00000360281:Y237H;ENSP00000442548:Y185H;ENSP00000440113:Y175H	ENSP00000360281:Y237H	Y	-	1	0	C8B	57187971	1.000000	0.71417	0.668000	0.29813	0.142000	0.21351	7.246000	0.78247	2.087000	0.62958	0.482000	0.46254	TAC	C8B	-	NULL	ENSG00000021852		0.328	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	153	0.00	0	A			57415383	57415383	-1	no_errors	ENST00000371237	ensembl	human	known	69_37n	missense	125	12.50	18	SNP	0.992	G
CCDC180	100499483	genome.wustl.edu	37	9	100092948	100092948	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100092948G>A	ENST00000357054.1	+	32	3657	c.2722G>A	c.(2722-2724)Gag>Aag	p.E908K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.E766K|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.E769K|CCDC180_ENST00000375202.2_Missense_Mutation_p.E769K|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	908	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ggagtcagaggaggaagatga	0.507																																						dbGAP											0													46.0	52.0	50.0					9																	100092948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2722G>A	9.37:g.100092948G>A	ENSP00000349562:p.Glu908Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E769K	ENST00000357054.1	37	c.2305		9	.	.	.	.	.	.	.	.	.	.	G	9.398	1.077238	0.20227	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.10382	3.37;2.88;3.37;2.88	4.09	-1.67	0.08238	.	1.787900	0.02618	N	0.102951	T	0.09555	0.0235	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.19583	0.004;0.017;0.004;0.037;0.004	B;B;B;B;B	0.17098	0.007;0.007;0.007;0.017;0.007	T	0.31081	-0.9956	10	0.09590	T	0.72	0.1919	4.3065	0.10949	0.3774:0.164:0.4586:0.0	.	792;766;908;769;908	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	K	908;769;766;792;769	ENSP00000349562:E908K;ENSP00000364348:E769K;ENSP00000414000:E766K;ENSP00000434727:E769K	ENSP00000349562:E908K	E	+	1	0	C9orf174	99132769	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.453000	0.21811	-0.102000	0.12197	0.505000	0.49811	GAG	C9orf174	-	NULL	ENSG00000197816		0.507	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		124	0.00	0	G	NM_020893		100092948	100092948	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	115	10.85	14	SNP	0.000	A
CCDC180	100499483	genome.wustl.edu	37	9	100119936	100119936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100119936G>T	ENST00000357054.1	+	36	4272	c.3337G>T	c.(3337-3339)Gga>Tga	p.G1113*	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.G1142*|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.G1142*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1113						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCAAACAAATGGATTAAATTT	0.373																																						dbGAP											0													132.0	145.0	141.0					9																	100119936		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3337G>T	9.37:g.100119936G>T	ENSP00000349562:p.Gly1113*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	NULL	p.G1142*	ENST00000357054.1	37	c.3424		9	.	.	.	.	.	.	.	.	.	.	G	45	11.410647	0.99558	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	.	.	.	5.3	-0.648	0.11464	.	0.610251	0.16921	N	0.194068	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.523	4.3939	0.11353	0.4812:0.1946:0.3243:0.0	.	.	.	.	X	1113;1142;1142	.	ENSP00000349562:G1113X	G	+	1	0	C9orf174	99159757	0.529000	0.26322	0.145000	0.22337	0.019000	0.09904	0.786000	0.26844	0.023000	0.15187	-0.211000	0.12701	GGA	C9orf174	-	NULL	ENSG00000197816		0.373	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		351	0.00	0	G	NM_020893		100119936	100119936	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	nonsense	266	21.30	72	SNP	0.005	T
ARRDC1-AS1	85026	genome.wustl.edu	37	9	140510469	140510471	+	In_Frame_Del	DEL	CTC	CTC	-	rs372776454		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:140510469_140510471delCTC	ENST00000371417.3	-	3	721_723	c.181_183delGAG	c.(181-183)gagdel	p.E61del	C9orf37_ENST00000496793.1_5'UTR|EHMT1_ENST00000460843.1_5'Flank|EHMT1_ENST00000334856.6_5'Flank|EHMT1_ENST00000462484.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		61										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AATTCCAGTTCTCCTTTAGGGCG	0.571																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0																														ENST00000371417.3:c.181_183delGAG	9.37:g.140510469_140510471delCTC	ENSP00000360471:p.Glu61del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM5|Q5T368	In_Frame_Del	DEL	NULL	p.E61in_frame_del	ENST00000371417.3	37	c.183_181	CCDS35189.1	9																																																																																			C9orf37	-	NULL	ENSG00000203993		0.571	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf37	HGNC	protein_coding	OTTHUMT00000055328.1	19	0.00	0	CTC			140510469	140510471	-1	no_errors	ENST00000371417	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	0.086:0.057:0.003	-
C9orf72	203228	genome.wustl.edu	37	9	27566855	27566855	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:27566855A>G	ENST00000380003.3	-	2	327	c.264T>C	c.(262-264)tcT>tcC	p.S88S	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.S88S	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	88					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		CTCCCTTTTCAGACAAGACAA	0.373																																						dbGAP											0													95.0	91.0	93.0					9																	27566855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.264T>C	9.37:g.27566855A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	NULL	p.S88	ENST00000380003.3	37	c.264	CCDS6522.1	9																																																																																			C9orf72	-	NULL	ENSG00000147894		0.373	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	HGNC	protein_coding	OTTHUMT00000051969.1	97	0.00	0	A	NM_018325		27566855	27566855	-1	no_errors	ENST00000380003	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	G
C9orf84	158401	genome.wustl.edu	37	9	114490015	114490016	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:114490015_114490016insT	ENST00000318737.4	-	11	1667_1668	c.1539_1540insA	c.(1537-1542)aaacaafs	p.Q514fs	C9orf84_ENST00000394779.3_Frame_Shift_Ins_p.Q475fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.Q514fs|C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.Q475fs	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	514										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATTCTCTTGTTTTTTGCCAT	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1540dupA	9.37:g.114490021_114490021dupT	ENSP00000322108:p.Gln514fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Frame_Shift_Ins	INS	superfamily_RuvA_2-like	p.Q513fs	ENST00000318737.4	37	c.1540_1539	CCDS6781.3	9																																																																																			C9orf84	-	NULL	ENSG00000165181		0.337	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	143	0.00	0	-	NM_173521		114490015	114490016	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	frame_shift_ins	141	18.50	32	INS	0.000:0.002	T
CABIN1	23523	genome.wustl.edu	37	22	24515602	24515602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:24515602delC	ENST00000398319.2	+	28	4954	c.4569delC	c.(4567-4569)ttcfs	p.F1523fs	CABIN1_ENST00000263119.5_Frame_Shift_Del_p.F1523fs|CABIN1_ENST00000405822.2_Frame_Shift_Del_p.F1444fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1523					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAGCCGCTTCCCCCAGCACT	0.642																																						dbGAP											0													96.0	105.0	102.0					22																	24515602		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4569delC	22.37:g.24515602delC	ENSP00000381364:p.Phe1523fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q1525fs	ENST00000398319.2	37	c.4569	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.642	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	95	0.00	0	C	NM_012295		24515602	24515602	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	frame_shift_del	51	22.39	15	DEL	1.000	-
CACNA2D4	93589	genome.wustl.edu	37	12	1910750	1910750	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:1910750delC	ENST00000382722.5	-	30	3144	c.2782delG	c.(2782-2784)gtgfs	p.V928fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.V928fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.V903fs|CACNA2D4_ENST00000538027.2_Frame_Shift_Del_p.V73fs|CACNA2D4_ENST00000538450.1_Frame_Shift_Del_p.V58fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.V864fs|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.V864fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	928					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGCTGAACACCCCCATGCTG	0.587																																					Colon(2;101 179 21030 23310 28141)	dbGAP											0													63.0	67.0	65.0					12																	1910750		2044	4179	6223	-	-	-	SO:0001589	frameshift_variant	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2782delG	12.37:g.1910750delC	ENSP00000372169:p.Val928fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.V928fs	ENST00000382722.5	37	c.2782	CCDS44785.1	12																																																																																			CACNA2D4	-	NULL	ENSG00000151062		0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	9	0.00	0	C			1910750	1910750	-1	no_errors	ENST00000382722	ensembl	human	known	69_37n	frame_shift_del	3	50.00	3	DEL	1.000	-
CACNB1	782	genome.wustl.edu	37	17	37331623	37331623	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:37331623C>T	ENST00000394303.3	-	14	1827	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	540				GTP -> A (in Ref. 1; AAA35633 and 5; AAB58781). {ECO:0000305}.	axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCTGGGGGCGTGCCGCCCC	0.647											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	dbGAP											0													109.0	123.0	119.0					17																	37331623		1885	4095	5980	-	-	-	SO:0001819	synonymous_variant	0				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1620G>A	17.37:g.37331623C>T		Somatic	869	WXS	Illumina GAIIx	Phase_IV	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.T540	ENST00000394303.3	37	c.1620	CCDS42311.1	17																																																																																			CACNB1	-	NULL	ENSG00000067191		0.647	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	106	0.00	0	C			37331623	37331623	-1	no_errors	ENST00000394303	ensembl	human	known	69_37n	silent	81	19.00	19	SNP	0.718	T
CAD	790	genome.wustl.edu	37	2	27447984	27447984	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:27447984G>T	ENST00000403525.1	+	11	1637	c.1493G>T	c.(1492-1494)gGg>gTg	p.G498V	CAD_ENST00000264705.4_Missense_Mutation_p.G498V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCGGTATGGGGTCCGGGTC	0.617																																						dbGAP											0													69.0	66.0	67.0					2																	27447984		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1493G>T	2.37:g.27447984G>T	ENSP00000384510:p.Gly498Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.G498V	ENST00000403525.1	37	c.1493		2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056602	0.76074	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98567	-5.0;-5.0	5.4	4.52	0.55395	PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.257848	0.45361	D	0.000370	D	0.99321	0.9762	H	0.98786	4.33	0.51012	D	0.999905	D;B	0.57571	0.98;0.302	D;B	0.64321	0.924;0.113	D	0.98404	1.0569	10	0.87932	D	0	-14.006	12.7268	0.57174	0.081:0.0:0.919:0.0	.	498;498	F8VPD4;P27708	.;PYR1_HUMAN	V	498	ENSP00000264705:G498V;ENSP00000384510:G498V	ENSP00000264705:G498V	G	+	2	0	CAD	27301488	0.955000	0.32602	0.952000	0.39060	0.990000	0.78478	2.246000	0.43142	1.256000	0.44068	0.462000	0.41574	GGG	CAD	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	47	0.00	0	G			27447984	27447984	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	39	31.58	18	SNP	0.993	T
CACNB4	785	genome.wustl.edu	37	2	152830225	152830225	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:152830225C>T	ENST00000539935.1	-	3	215				CACNB4_ENST00000397327.2_5'UTR|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000534999.1_Start_Codon_SNP_p.M1I|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000360283.6_Start_Codon_SNP_p.M1I	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AATTGTCATACATGGAGGTGT	0.438																																						dbGAP											0													69.0	66.0	67.0					2																	152830225		1880	4108	5988	-	-	-	SO:0001627	intron_variant	0			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.148-90341G>A	2.37:g.152830225C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su,pfscan_SH3_domain	p.M1I	ENST00000539935.1	37	c.3	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280379	0.59758	.	.	ENSG00000182389	ENST00000360283;ENST00000534999	T;T	0.71103	-0.54;-0.54	5.78	5.78	0.91487	.	.	.	.	.	T	0.79106	0.4390	.	.	.	0.80722	D	1	B;P	0.39044	0.036;0.656	B;P	0.48627	0.007;0.584	T	0.80074	-0.1534	8	0.87932	D	0	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	1;1	E7DBM8;O00305-2	.;.	I	1	ENSP00000353425:M1I;ENSP00000443893:M1I	ENSP00000353425:M1I	M	-	3	0	CACNB4	152538471	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.633000	0.74286	2.740000	0.93945	0.313000	0.20887	ATG	CACNB4	-	prints_VDCC_L_b3su	ENSG00000182389		0.438	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	68	0.00	0	C	NM_000726.3		152830225	152830225	-1	no_errors	ENST00000360283	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7700471	7700471	+	Silent	SNP	C	C	T	rs376552325		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:7700471C>T	ENST00000303635.7	+	7	729	c.522C>T	c.(520-522)atC>atT	p.I174I	CAMTA1_ENST00000439411.2_Silent_p.I174I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCGACATCGTCCTGGTGC	0.657			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													98.0	85.0	89.0					1																	7700471		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.522C>T	1.37:g.7700471C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I174	ENST00000303635.7	37	c.522	CCDS30576.1	1																																																																																			CAMTA1	-	pfam_CG-1_dom	ENSG00000171735		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	32	0.00	0	C	NM_015215		7700471	7700471	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.956	T
CAMTA1	23261	genome.wustl.edu	37	1	7724938	7724938	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:7724938C>T	ENST00000303635.7	+	9	2538	c.2331C>T	c.(2329-2331)atC>atT	p.I777I	CAMTA1_ENST00000439411.2_Silent_p.I777I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGACCTGATCAACGACTTCA	0.632			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													167.0	189.0	181.0					1																	7724938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2331C>T	1.37:g.7724938C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I777	ENST00000303635.7	37	c.2331	CCDS30576.1	1																																																																																			CAMTA1	-	NULL	ENSG00000171735		0.632	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	64	0.00	0	C	NM_015215		7724938	7724938	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	1.000	T
CAND2	23066	genome.wustl.edu	37	3	12858022	12858022	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:12858022G>A	ENST00000456430.2	+	10	1632	c.1591G>A	c.(1591-1593)Gct>Act	p.A531T	CAND2_ENST00000295989.5_Missense_Mutation_p.A438T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	531					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCTGTGTGGCTGACTCTTT	0.642																																					GBM(43;676 868 1633 6395 37496)	dbGAP											0													42.0	47.0	45.0					3																	12858022		2090	4204	6294	-	-	-	SO:0001583	missense	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1591G>A	3.37:g.12858022G>A	ENSP00000387641:p.Ala531Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.A531T	ENST00000456430.2	37	c.1591	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179623	0.38511	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64618	-0.11;-0.11	5.12	3.04	0.35103	Armadillo-like helical (1);Armadillo-type fold (1);	0.560811	0.16519	N	0.210865	T	0.47488	0.1448	N	0.22421	0.69	0.80722	D	1	B;B	0.24317	0.001;0.101	B;B	0.29077	0.007;0.098	T	0.31336	-0.9947	10	0.23302	T	0.38	-31.6591	11.7664	0.51933	0.0:0.0:0.5522:0.4478	.	531;438	O75155;O75155-2	CAND2_HUMAN;.	T	438;531	ENSP00000295989:A438T;ENSP00000387641:A531T	ENSP00000295989:A438T	A	+	1	0	CAND2	12833022	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	5.393000	0.66279	1.086000	0.41228	0.561000	0.74099	GCT	CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	54	0.00	0	G	XM_371617		12858022	12858022	+1	no_errors	ENST00000456430	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	0.996	A
PPT1	5538	genome.wustl.edu	37	1	40536594	40536597	+	IGR	DEL	AGTC	AGTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGTC	AGTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:40536594_40536597delAGTC	ENST00000433473.3	-	0	2740				CAP1_ENST00000372797.3_Frame_Shift_Del_p.IV429fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.IV429fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.IV428fs|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372798.1_Frame_Shift_Del_p.IV428fs|CAP1_ENST00000372805.3_Frame_Shift_Del_p.IV429fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.IV428fs	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGTGAAATAGTCAGTGCCAAAT	0.417																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40536594_40536597delAGTC		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY24|Q6FGQ4	Frame_Shift_Del	DEL	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.S431fs	ENST00000433473.3	37	c.1287_1290	CCDS447.1	1																																																																																			CAP1	-	pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	ENSG00000131236		0.417	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP1	HGNC	protein_coding	OTTHUMT00000013126.2	420	0.00	0	AGTC	NM_000310		40536594	40536597	+1	no_errors	ENST00000372792	ensembl	human	known	69_37n	frame_shift_del	329	14.32	55	DEL	1.000:1.000:1.000:1.000	-
CARM1	10498	genome.wustl.edu	37	19	11022909	11022909	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:11022909C>T	ENST00000327064.4	+	5	798	c.608C>T	c.(607-609)gCc>gTc	p.A203V	CARM1_ENST00000344150.4_Missense_Mutation_p.A203V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	203	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTTTTTGCCGCCCAAGCTGGA	0.627																																						dbGAP											0													309.0	253.0	272.0					19																	11022909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.608C>T	19.37:g.11022909C>T	ENSP00000325690:p.Ala203Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.A203V	ENST00000327064.4	37	c.608	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212737	0.39102	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.38077	1.16;1.16	5.67	4.64	0.57946	.	0.131786	0.49916	D	0.000130	T	0.20981	0.0505	N	0.17379	0.485	0.43292	D	0.995274	B	0.26120	0.142	B	0.26770	0.073	T	0.06679	-1.0813	10	0.15952	T	0.53	-4.0609	9.9212	0.41466	0.0:0.8427:0.0:0.1573	.	203	Q86X55	CARM1_HUMAN	V	203	ENSP00000325690:A203V;ENSP00000340934:A203V	ENSP00000325690:A203V	A	+	2	0	CARM1	10883909	1.000000	0.71417	0.230000	0.23976	0.995000	0.86356	2.435000	0.44811	1.409000	0.46915	0.655000	0.94253	GCC	CARM1	-	pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	ENSG00000142453		0.627	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	65	0.00	0	C	XM_032719		11022909	11022909	+1	no_errors	ENST00000327064	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	T
CASD1	64921	genome.wustl.edu	37	7	94174999	94174999	+	Frame_Shift_Del	DEL	A	A	-	rs74907120		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:94174999delA	ENST00000297273.4	+	12	1906	c.1619delA	c.(1618-1620)caafs	p.Q540fs		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	540						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAATAATCCAAAAAAAAGCA	0.294																																						dbGAP											0													95.0	84.0	88.0					7																	94174999		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1619delA	7.37:g.94174999delA	ENSP00000297273:p.Gln540fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Frame_Shift_Del	DEL	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.A543fs	ENST00000297273.4	37	c.1619	CCDS5636.1	7																																																																																			CASD1	-	pfam_Cas1_AcylTrans_dom	ENSG00000127995		0.294	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	74	0.00	0	A	NM_022900		94174999	94174999	+1	no_errors	ENST00000297273	ensembl	human	known	69_37n	frame_shift_del	62	16.00	12	DEL	1.000	-
CASP8	841	genome.wustl.edu	37	2	202137400	202137400	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:202137400A>G	ENST00000432109.2	+	5	640	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	CASP8_ENST00000358485.4_Missense_Mutation_p.I210V|CASP8_ENST00000323492.7_Missense_Mutation_p.I151V|CASP8_ENST00000264274.9_Missense_Mutation_p.I151V|CASP8_ENST00000392259.2_Missense_Mutation_p.I151V|CASP8_ENST00000392266.3_Missense_Mutation_p.I151V|CASP8_ENST00000392258.3_Missense_Mutation_p.I151V|CASP8_ENST00000264275.5_Missense_Mutation_p.I183V	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	151	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAAGAGGGTCATCCTGGGAGA	0.423										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													139.0	143.0	142.0					2																	202137400		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.451A>G	2.37:g.202137400A>G	ENSP00000412523:p.Ile151Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.I210V	ENST00000432109.2	37	c.628	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676107	0.67928	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000424461;ENST00000444430	T;D;D;D;T;D;D;D;D;T;D;T;D;D	0.82167	4.38;-1.58;-1.58;-1.58;4.41;-1.58;-1.58;-1.58;-1.58;4.37;-1.58;4.38;-1.58;-1.58	5.98	0.539	0.17156	DEATH-like (2);Death effector (3);	0.533860	0.20014	N	0.101071	D	0.84051	0.5387	M	0.76002	2.32	0.09310	N	1	P;P;P;P;P;P;B;B;P;P	0.44309	0.776;0.69;0.566;0.798;0.832;0.51;0.24;0.321;0.548;0.798	P;B;B;P;P;B;B;B;B;B	0.50570	0.644;0.384;0.345;0.539;0.519;0.384;0.403;0.205;0.384;0.439	T	0.74153	-0.3757	10	0.29301	T	0.29	.	9.4445	0.38688	0.4402:0.4921:0.0677:0.0	.	151;151;151;151;151;210;151;151;183;151	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	V	151;151;151;151;151;183;48;151;151;210;151;151;151;14;14	ENSP00000376091:I151V;ENSP00000264274:I151V;ENSP00000376088:I151V;ENSP00000376094:I151V;ENSP00000412523:I151V;ENSP00000264275:I183V;ENSP00000391709:I48V;ENSP00000376087:I151V;ENSP00000388306:I151V;ENSP00000351273:I210V;ENSP00000397528:I151V;ENSP00000325722:I151V;ENSP00000390346:I14V;ENSP00000394434:I14V	ENSP00000264274:I151V	I	+	1	0	CASP8	201845645	0.023000	0.18921	0.000000	0.03702	0.628000	0.37860	0.504000	0.22626	-0.124000	0.11724	0.482000	0.46254	ATC	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	ENSG00000064012		0.423	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	398	0.00	0	A	NM_001228		202137400	202137400	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	277	36.96	163	SNP	0.001	G
CASP8AP2	9994	genome.wustl.edu	37	6	90578727	90578727	+	RNA	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:90578727A>G	ENST00000551025.1	+	0	7155									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CATCAGCAGCACTTGCCACTT	0.388																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													33.0	31.0	32.0					6																	90578727		1843	4089	5932	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578727A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		34	0.00	0	A	NM_001137667		90578727	90578727	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	23	34.29	12	SNP	0.000	G
CASQ2	845	genome.wustl.edu	37	1	116243962	116243962	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:116243962G>C	ENST00000261448.5	-	11	1339	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CASQ2_ENST00000456138.2_Missense_Mutation_p.S296C	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	367	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TATCTTTCCAGAAAGCACATC	0.433																																						dbGAP											0													148.0	123.0	132.0					1																	116243962		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1100C>G	1.37:g.116243962G>C	ENSP00000261448:p.Ser367Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.S367C	ENST00000261448.5	37	c.1100	CCDS884.1	1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823755	0.90873	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.75154	-0.91;-0.91	5.86	5.86	0.93980	Calsequestrin, conserved site (1);	0.048834	0.85682	D	0.000000	D	0.86184	0.5872	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.958	D	0.86347	0.1708	10	0.72032	D	0.01	-19.4714	20.1735	0.98170	0.0:0.0:1.0:0.0	.	296;367	B4DIB0;O14958	.;CASQ2_HUMAN	C	367;296;321	ENSP00000261448:S367C;ENSP00000403858:S296C	ENSP00000261448:S367C	S	-	2	0	CASQ2	116045485	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	7.269000	0.78482	2.937000	0.99478	0.650000	0.86243	TCT	CASQ2	-	pfam_Calsequestrin,prints_Calsequestrin	ENSG00000118729		0.433	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	97	0.00	0	G	NM_001232		116243962	116243962	-1	no_errors	ENST00000261448	ensembl	human	known	69_37n	missense	66	19.28	16	SNP	1.000	C
CAT	847	genome.wustl.edu	37	11	34482536	34482536	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:34482536delA	ENST00000241052.4	+	9	1145					NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATGCAGAAGGAAAAAAAAAAG	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1057-262A>-	11.37:g.34482536delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	RNA	DEL	-	NULL	ENST00000241052.4	37	NULL	CCDS7891.1	11																																																																																			CAT	-	-	ENSG00000121691		0.343	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	30	0.00	0	A	NM_001752		34482536	34482536	+1	no_errors	ENST00000530343	ensembl	human	known	69_37n	rna	22	43.18	19	DEL	0.001	-
CATSPER1	117144	genome.wustl.edu	37	11	65793668	65793668	+	Silent	SNP	C	C	T	rs201152056		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:65793668C>T	ENST00000312106.5	-	1	320	c.183G>A	c.(181-183)ccG>ccA	p.P61P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	61	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTTGGAACTCCGGAGGGTGGT	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20145	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													195.0	143.0	161.0					11																	65793668		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.183G>A	11.37:g.65793668C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.P61	ENST00000312106.5	37	c.183	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.617	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	99	0.00	0	C	NM_053054		65793668	65793668	-1	no_errors	ENST00000312106	ensembl	human	known	69_37n	silent	88	17.76	19	SNP	0.001	T
CATSPER2P1	440278	genome.wustl.edu	37	15	44019408	44019408	+	IGR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:44019408G>A								STRC (8950 upstream) : RNU6-354P (6968 downstream)																							ATCAGTGCCTGCACTGCAAAG	0.413																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															15.37:g.44019408G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		15																																																																																			CATSPER2P1	-	-	ENSG00000205771	0	0.413					CATSPER2P1	HGNC			237	0.00	0	G			44019408	44019408	-1	no_errors	ENST00000446479	ensembl	human	putative	69_37n	rna	129	27.12	48	SNP	1.000	A
CBWD1	55871	genome.wustl.edu	37	9	163985	163985	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:163985A>G	ENST00000356521.4	-	5	571	c.483T>C	c.(481-483)taT>taC	p.Y161Y	CBWD1_ENST00000431099.2_Silent_p.Y125Y|CBWD1_ENST00000382447.4_Silent_p.Y161Y|CBWD1_ENST00000377400.4_Silent_p.Y161Y|CBWD1_ENST00000377447.3_Silent_p.Y161Y|CBWD1_ENST00000314367.10_Silent_p.Y125Y	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	161							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TACCATCAAGATAAATATCAC	0.323																																						dbGAP											0													52.0	80.0	70.0					9																	163985		1501	2702	4203	-	-	-	SO:0001819	synonymous_variant	0			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.483T>C	9.37:g.163985A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Silent	SNP	pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.Y161	ENST00000356521.4	37	c.483	CCDS6438.1	9																																																																																			CBWD1	-	pfam_Cbl_biosynth_CobW-like	ENSG00000172785		0.323	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	192	0.52	1	A	NM_018491		163985	163985	-1	no_errors	ENST00000356521	ensembl	human	known	69_37n	silent	167	11.17	21	SNP	0.999	G
CBX2	84733	genome.wustl.edu	37	17	77758811	77758811	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:77758811C>T	ENST00000310942.4	+	5	1673	c.1569C>T	c.(1567-1569)agC>agT	p.S523S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	523					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCCACCAGCGTGGGCTTCT	0.602																																						dbGAP											0													78.0	68.0	71.0					17																	77758811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1569C>T	17.37:g.77758811C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDA5|Q9BTB1	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.S523	ENST00000310942.4	37	c.1569	CCDS32757.1	17																																																																																			CBX2	-	NULL	ENSG00000173894		0.602	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX2	HGNC	protein_coding	OTTHUMT00000437040.1	34	0.00	0	C	NM_032647		77758811	77758811	+1	no_errors	ENST00000310942	ensembl	human	known	69_37n	silent	7	46.15	6	SNP	0.677	T
CC2D1B	200014	genome.wustl.edu	37	1	52826578	52826578	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:52826578G>A	ENST00000371586.2	-	5	616				CC2D1B_ENST00000460261.1_Intron|CC2D1B_ENST00000284376.3_Intron|CC2D1B_ENST00000438831.1_Intron	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B							nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TGCAGGCCAGGCCACACACGT	0.642																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.477+67C>T	1.37:g.52826578G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	RNA	SNP	-	NULL	ENST00000371586.2	37	NULL	CCDS30714.1	1																																																																																			CC2D1B	-	-	ENSG00000154222		0.642	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	58	0.00	0	G	NM_032449		52826578	52826578	-1	no_errors	ENST00000491136	ensembl	human	known	69_37n	rna	32	20.00	8	SNP	0.000	A
CC2D2A	57545	genome.wustl.edu	37	4	15569050	15569050	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:15569050C>T	ENST00000503292.1	+	26	3413	c.3233C>T	c.(3232-3234)gCt>gTt	p.A1078V	CC2D2A_ENST00000424120.1_Missense_Mutation_p.A1078V|CC2D2A_ENST00000413206.1_Missense_Mutation_p.A1078V|CC2D2A_ENST00000389652.5_Missense_Mutation_p.A1029V	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1078	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GAAAAGCATGCTGCTTCCCCA	0.478																																						dbGAP											0													75.0	74.0	74.0					4																	15569050		2061	4210	6271	-	-	-	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3233C>T	4.37:g.15569050C>T	ENSP00000421809:p.Ala1078Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.A1078V	ENST00000503292.1	37	c.3233	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	6.070	0.381186	0.11466	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.4	2.73	0.32206	C2 calcium-dependent membrane targeting (1);	0.645821	0.14899	N	0.291926	T	0.71099	0.3300	L	0.54323	1.7	0.20703	N	0.999864	B;B	0.16166	0.004;0.016	B;B	0.20184	0.009;0.028	T	0.56595	-0.7953	10	0.23302	T	0.38	.	11.0162	0.47689	0.0:0.8013:0.0:0.1987	.	1078;1029	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	V	1078;1078;1029;1029;1078;1029	ENSP00000403465:A1078V;ENSP00000398391:A1078V;ENSP00000421809:A1078V;ENSP00000374303:A1029V	ENSP00000374303:A1029V	A	+	2	0	CC2D2A	15178148	0.960000	0.32886	0.072000	0.20136	0.188000	0.23474	1.949000	0.40313	0.664000	0.31047	0.563000	0.77884	GCT	CC2D2A	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000048342		0.478	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	91	0.00	0	C	NM_001080522		15569050	15569050	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	65	35.64	36	SNP	0.058	T
CCDC102B	79839	genome.wustl.edu	37	18	66504553	66504553	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:66504553A>G	ENST00000360242.5	+	2	670	c.553A>G	c.(553-555)Aga>Gga	p.R185G	CCDC102B_ENST00000584156.1_Missense_Mutation_p.R185G|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R185G|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R185G	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	185										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGAGTCTATCAGAGAGTATTT	0.353																																						dbGAP											0													102.0	101.0	101.0					18																	66504553		1827	4081	5908	-	-	-	SO:0001583	missense	0			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.553A>G	18.37:g.66504553A>G	ENSP00000353377:p.Arg185Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	NULL	p.R185G	ENST00000360242.5	37	c.553	CCDS11996.2	18	.	.	.	.	.	.	.	.	.	.	A	7.918	0.737947	0.15574	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.56275	0.47;0.47;0.47	5.11	2.6	0.31112	.	0.630844	0.14196	N	0.335001	T	0.44159	0.1280	L	0.49778	1.585	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.34254	-0.9836	10	0.40728	T	0.16	-1.4437	7.6479	0.28331	0.8673:0.0:0.1327:0.0	.	185;185	Q68D86-3;Q68D86	.;C102B_HUMAN	G	185	ENSP00000316237:R185G;ENSP00000351479:R185G;ENSP00000353377:R185G	ENSP00000316237:R185G	R	+	1	2	CCDC102B	64655533	0.013000	0.17824	0.003000	0.11579	0.053000	0.15095	1.718000	0.38001	0.211000	0.20683	0.455000	0.32223	AGA	CCDC102B	-	NULL	ENSG00000150636		0.353	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102B	HGNC	protein_coding	OTTHUMT00000256225.2	205	0.00	0	A	NM_024781		66504553	66504553	+1	no_errors	ENST00000319445	ensembl	human	known	69_37n	missense	165	13.99	27	SNP	0.001	G
CCDC108	255101	genome.wustl.edu	37	2	219883883	219883883	+	Frame_Shift_Del	DEL	G	G	-	rs568903495		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:219883883delG	ENST00000341552.5	-	21	3575	c.3492delC	c.(3490-3492)cccfs	p.P1164fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P1164fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P1164fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1164						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGAGGACGGGGGGGATCT	0.612																																						dbGAP											0													46.0	53.0	51.0					2																	219883883		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3492delC	2.37:g.219883883delG	ENSP00000340776:p.Pro1164fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	superfamily_PapD-like,pfscan_Major_sperm	p.V1165fs	ENST00000341552.5	37	c.3492	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	62	0.00	0	G	NM_194302		219883883	219883883	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	frame_shift_del	34	23.53	12	DEL	0.000	-
CCDC150	284992	genome.wustl.edu	37	2	197597463	197597463	+	3'UTR	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:197597463delT	ENST00000389175.4	+	0	3618				CCDC150_ENST00000272831.7_3'UTR|CCDC150_ENST00000409270.1_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAACTACCCCTTTTTTTGTCC	0.328																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.*177T>-	2.37:g.197597463delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	RNA	DEL	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			CCDC150	-	-	ENSG00000144395		0.328	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	72	0.00	0	T	NM_001080539		197597463	197597463	+1	no_errors	ENST00000483877	ensembl	human	putative	69_37n	rna	73	13.10	11	DEL	0.008	-
CCDC155	147872	genome.wustl.edu	37	19	49899049	49899049	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49899049C>T	ENST00000447857.3	+	5	564	c.359C>T	c.(358-360)aCc>aTc	p.T120I		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	120						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAAGAGGAGACCGCCTTCCAG	0.587																																						dbGAP											0													22.0	24.0	23.0					19																	49899049		1935	4130	6065	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.359C>T	19.37:g.49899049C>T	ENSP00000404220:p.Thr120Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MC3	Missense_Mutation	SNP	NULL	p.T120I	ENST00000447857.3	37	c.359	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020199	0.75275	.	.	ENSG00000161609	ENST00000447857	T	0.35048	1.33	4.4	4.4	0.53042	.	0.595298	0.16462	N	0.213377	T	0.54127	0.1839	M	0.75447	2.3	0.27015	N	0.964593	D;D;D	0.62365	0.971;0.971;0.991	P;P;P	0.59487	0.714;0.714;0.858	T	0.47032	-0.9148	10	0.40728	T	0.16	-14.3997	12.6697	0.56860	0.0:1.0:0.0:0.0	.	120;120;200	C9JGW3;Q8N6L0;Q6ZRK4	.;CC155_HUMAN;.	I	120	ENSP00000404220:T120I	ENSP00000404220:T120I	T	+	2	0	CCDC155	54590861	0.436000	0.25586	0.905000	0.35620	0.992000	0.81027	1.862000	0.39448	2.457000	0.83068	0.561000	0.74099	ACC	CCDC155	-	NULL	ENSG00000161609		0.587	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	17	0.00	0	C	NM_144688		49899049	49899049	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	8	52.94	9	SNP	0.774	T
CCDC67	159989	genome.wustl.edu	37	11	93104239	93104240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:93104239_93104240insA	ENST00000298050.3	+	7	682_683	c.582_583insA	c.(583-585)aaafs	p.K195fs		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	195					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AACTAAATGGTAAAAAACAGTG	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.588dupA	11.37:g.93104245_93104245dupA	ENSP00000298050:p.Lys195fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEF1|Q96LL7	Frame_Shift_Ins	INS	superfamily_MHC_II-assoc_invariant_trimer	p.Q196fs	ENST00000298050.3	37	c.582_583	CCDS44707.1	11																																																																																			CCDC67	-	NULL	ENSG00000165325		0.332	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		83	0.00	0	-	NM_181645		93104239	93104240	+1	no_errors	ENST00000298050	ensembl	human	known	69_37n	frame_shift_ins	82	31.09	37	INS	0.989:0.995	A
CCDC8	83987	genome.wustl.edu	37	19	46915364	46915364	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:46915364C>A	ENST00000307522.3	-	1	1477	c.704G>T	c.(703-705)gGg>gTg	p.G235V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	235					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CGATGATACCCCTGCGCTCTC	0.711																																						dbGAP											0													22.0	26.0	25.0					19																	46915364		2195	4288	6483	-	-	-	SO:0001583	missense	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.704G>T	19.37:g.46915364C>A	ENSP00000303158:p.Gly235Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB26	Missense_Mutation	SNP	NULL	p.G235V	ENST00000307522.3	37	c.704	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417938	0.62622	.	.	ENSG00000169515	ENST00000307522	T	0.25085	1.82	4.66	-0.505	0.11993	.	0.608321	0.13832	N	0.359696	T	0.28366	0.0701	L	0.56769	1.78	0.18873	N	0.999982	P	0.48016	0.904	P	0.48227	0.571	T	0.13098	-1.0522	10	0.46703	T	0.11	-6.0248	7.3108	0.26473	0.0:0.4895:0.0:0.5105	.	235	Q9H0W5	CCDC8_HUMAN	V	235	ENSP00000303158:G235V	ENSP00000303158:G235V	G	-	2	0	CCDC8	51607204	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.995000	0.29706	-0.129000	0.11620	0.655000	0.94253	GGG	CCDC8	-	NULL	ENSG00000169515		0.711	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	31	0.00	0	C	NM_032040		46915364	46915364	-1	no_errors	ENST00000307522	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	0.000	A
CCDC82	79780	genome.wustl.edu	37	11	96117385	96117387	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:96117385_96117387delTCT	ENST00000278520.5	-	3	953_955	c.525_527delAGA	c.(523-528)gaagac>gac	p.E175del	CCDC82_ENST00000542662.1_In_Frame_Del_p.E175del|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_In_Frame_Del_p.E175del			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	175										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGCTTGATGTCTTCTTCTTCTA	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.525_527delAGA	11.37:g.96117394_96117396delTCT	ENSP00000278520:p.Glu175del	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	In_Frame_Del	DEL	NULL	p.E175in_frame_del	ENST00000278520.5	37	c.527_525	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.360	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	236	0.00	0	TCT	NM_024725		96117385	96117387	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	in_frame_del	291	11.68	39	DEL	0.005:0.012:0.029	-
CCDC97	90324	genome.wustl.edu	37	19	41825581	41825581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:41825581delC	ENST00000269967.3	+	3	727	c.605delC	c.(604-606)accfs	p.T202fs		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	202										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGTGCCCGCACCCCAACCCAC	0.647																																						dbGAP											0													57.0	62.0	61.0					19																	41825581		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.605delC	19.37:g.41825581delC	ENSP00000269967:p.Thr202fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658N6|Q96IF3	Frame_Shift_Del	DEL	pfam_DUF2052_coiled-coil	p.P203fs	ENST00000269967.3	37	c.605	CCDS12578.1	19																																																																																			CCDC97	-	pfam_DUF2052_coiled-coil	ENSG00000142039		0.647	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC97	HGNC	protein_coding	OTTHUMT00000463293.1	216	0.00	0	C	NM_052848		41825581	41825581	+1	no_errors	ENST00000269967	ensembl	human	known	69_37n	frame_shift_del	183	13.15	28	DEL	0.346	-
CCND2	894	genome.wustl.edu	37	12	4388070	4388070	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:4388070G>A	ENST00000261254.3	+	3	825	c.556G>A	c.(556-558)Gct>Act	p.A186T	CCND2_ENST00000541542.1_3'UTR|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	186					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GACCTTCATTGCTCTGTGTGC	0.567			T	IGL@	"""NHL,CLL"""																																	dbGAP		Dom	yes		12	12p13	894	cyclin D2		L	0													55.0	49.0	51.0					12																	4388070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.556G>A	12.37:g.4388070G>A	ENSP00000261254:p.Ala186Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K531|Q13955|Q5U035	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.A186T	ENST00000261254.3	37	c.556	CCDS8524.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.991317|3.991317	0.74703|0.74703	.|.	.|.	ENSG00000118971|ENSG00000118971	ENST00000261254|ENST00000536537	T|.	0.22539|.	1.95|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cyclin, C-terminal (1);Cyclin-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77711|0.77711	0.4171|0.4171	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.56823|.	0.807|.	T|T	0.79897|0.79897	-0.1609|-0.1609	10|5	0.52906|.	T|.	0.07|.	.|.	16.8234|16.8234	0.85924|0.85924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	186|.	P30279|.	CCND2_HUMAN|.	T|Y	186|101	ENSP00000261254:A186T|.	ENSP00000261254:A186T|.	A|C	+|+	1|2	0|0	CCND2|CCND2	4258331|4258331	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.543000|0.543000	0.35085|0.35085	9.860000|9.860000	0.99555|0.99555	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	GCT|TGC	CCND2	-	pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000118971		0.567	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND2	HGNC	protein_coding	OTTHUMT00000398287.1	39	0.00	0	G	NM_001759		4388070	4388070	+1	no_errors	ENST00000261254	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	1.000	A
CCNF	899	genome.wustl.edu	37	16	2499889	2499889	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:2499889C>T	ENST00000397066.4	+	13	1548	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	RP11-715J22.3_ENST00000561653.1_RNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	487					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACCTCATTCCCTGCGTCTTG	0.612																																						dbGAP											0													150.0	139.0	143.0					16																	2499889		2198	4300	6498	-	-	-	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1460C>T	16.37:g.2499889C>T	ENSP00000380256:p.Pro487Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like	p.P487L	ENST00000397066.4	37	c.1460	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819924	0.71028	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25085	1.82	5.2	5.2	0.72013	Cyclin, C-terminal (1);Cyclin-like (3);	0.102016	0.64402	D	0.000001	T	0.51415	0.1673	M	0.80616	2.505	0.80722	D	1	D	0.55172	0.97	P	0.62649	0.905	T	0.56159	-0.8025	10	0.66056	D	0.02	-34.5759	15.4697	0.75432	0.0:1.0:0.0:0.0	.	487	P41002	CCNF_HUMAN	L	487;402	ENSP00000380256:P487L	ENSP00000293968:P402L	P	+	2	0	CCNF	2439890	1.000000	0.71417	0.996000	0.52242	0.430000	0.31655	6.715000	0.74697	2.434000	0.82447	0.462000	0.41574	CCC	CCNF	-	pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000162063		0.612	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	46	0.00	0	C	NM_001761		2499889	2499889	+1	no_errors	ENST00000397066	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	T
CCNK	8812	genome.wustl.edu	37	14	99969204	99969204	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:99969204A>G	ENST00000389879.5	+	8	1017	c.894A>G	c.(892-894)gaA>gaG	p.E298E	CCNK_ENST00000555049.1_Silent_p.E298E	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	298					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				AAAGCTCCGAACCATCCCAGC	0.622																																						dbGAP											0													99.0	131.0	120.0					14																	99969204		2144	4260	6404	-	-	-	SO:0001819	synonymous_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.894A>G	14.37:g.99969204A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.E298	ENST00000389879.5	37	c.894	CCDS45160.1	14																																																																																			CCNK	-	NULL	ENSG00000090061		0.622	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	74	0.00	0	A			99969204	99969204	+1	no_errors	ENST00000389879	ensembl	human	known	69_37n	silent	44	20.00	11	SNP	0.014	G
CCR7	1236	genome.wustl.edu	37	17	38721655	38721655	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:38721655G>T	ENST00000246657.2	-	1	69	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	3					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CACTCACCCAGGTCCATGACG	0.592																																						dbGAP											0													144.0	113.0	123.0					17																	38721655		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.7C>A	17.37:g.38721655G>T	ENSP00000246657:p.Leu3Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_CCR7,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCR11,pfscan_GPCR_Rhodpsn_supfam	p.L3M	ENST00000246657.2	37	c.7	CCDS11369.1	17	.	.	.	.	.	.	.	.	.	.	g	11.49	1.652931	0.29336	.	.	ENSG00000126353	ENST00000246657	T	0.61510	0.1	4.59	-0.91	0.10511	.	6.654570	0.00481	N	0.000125	T	0.42899	0.1223	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30679	-0.9970	10	0.56958	D	0.05	.	4.4386	0.11562	0.365:0.1579:0.4771:0.0	.	3	P32248	CCR7_HUMAN	M	3	ENSP00000246657:L3M	ENSP00000246657:L3M	L	-	1	2	CCR7	35975181	1.000000	0.71417	0.989000	0.46669	0.652000	0.38707	0.499000	0.22546	-0.177000	0.10690	-0.231000	0.12243	CTG	CCR7	-	prints_Chemokine_CCR7	ENSG00000126353		0.592	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	129	0.00	0	G			38721655	38721655	-1	no_errors	ENST00000246657	ensembl	human	known	69_37n	missense	77	35.29	42	SNP	0.992	T
CCT6A	908	genome.wustl.edu	37	7	56128011	56128011	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:56128011T>C	ENST00000275603.4	+	10	1334	c.1115T>C	c.(1114-1116)gTc>gCc	p.V372A	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.V341A|CCT6A_ENST00000335503.3_Missense_Mutation_p.V327A	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	372					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTCGTTCTGTCACATTATTG	0.383																																						dbGAP											0													91.0	84.0	86.0					7																	56128011		2203	4300	6503	-	-	-	SO:0001583	missense	0			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1115T>C	7.37:g.56128011T>C	ENSP00000275603:p.Val372Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.V372A	ENST00000275603.4	37	c.1115	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459948	0.63401	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.75154	-0.91;-0.91;-0.91	5.68	5.68	0.88126	.	0.055536	0.64402	D	0.000001	D	0.84133	0.5405	M	0.88377	2.95	0.80722	D	1	P;P;P	0.46020	0.503;0.736;0.871	B;P;P	0.50754	0.267;0.588;0.649	D	0.86571	0.1847	10	0.54805	T	0.06	-11.5308	15.1098	0.72346	0.0:0.0:0.0:1.0	.	341;327;372	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	A	372;327;341;230	ENSP00000275603:V372A;ENSP00000352019:V327A;ENSP00000438488:V341A	ENSP00000275603:V372A	V	+	2	0	CCT6A	56095505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.162000	0.67917	0.482000	0.46254	GTC	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000146731		0.383	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	113	0.00	0	T	NM_001762		56128011	56128011	+1	no_errors	ENST00000275603	ensembl	human	known	69_37n	missense	86	27.73	33	SNP	1.000	C
CD22	933	genome.wustl.edu	37	19	35832857	35832857	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:35832857delT	ENST00000085219.5	+	9	2090	c.2024delT	c.(2023-2025)ctcfs	p.L675fs	CD22_ENST00000544992.2_Frame_Shift_Del_p.L675fs|CD22_ENST00000419549.2_Frame_Shift_Del_p.L503fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.L498fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.L587fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.L498fs|CD22_ENST00000270311.6_Frame_Shift_Del_p.L555fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	675	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCAGCACCCTCACCGTCTAC	0.577																																					Ovarian(42;1009 1133 23674 26041)	dbGAP											0													121.0	77.0	92.0					19																	35832857		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2024delT	19.37:g.35832857delT	ENSP00000085219:p.Leu675fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Del	DEL	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L675fs	ENST00000085219.5	37	c.2024	CCDS12457.1	19																																																																																			CD22	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000012124		0.577	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	236	0.00	0	T	NM_001771		35832857	35832857	+1	no_errors	ENST00000085219	ensembl	human	known	69_37n	frame_shift_del	185	21.20	53	DEL	1.000	-
CD28	940	genome.wustl.edu	37	2	204599627	204599627	+	Missense_Mutation	SNP	C	C	T	rs200936737		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:204599627C>T	ENST00000324106.8	+	4	804	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	CD28_ENST00000458610.2_Missense_Mutation_p.R233C|CD28_ENST00000374478.4_Missense_Mutation_p.R100C|CD28_ENST00000374481.3_Missense_Mutation_p.R135C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	219					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CGCAGCCTATCGCTCCTGACA	0.627																																						dbGAP											0													50.0	54.0	53.0					2																	204599627		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.655C>T	2.37:g.204599627C>T	ENSP00000324890:p.Arg219Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28	p.R219C	ENST00000324106.8	37	c.655	CCDS2361.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494298	0.85069	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	.	.	.	5.19	4.26	0.50523	.	0.000000	0.56097	D	0.000035	T	0.78848	0.4348	M	0.80982	2.52	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81780	-0.0776	9	0.87932	D	0	-19.8314	13.6728	0.62436	0.1534:0.8466:0.0:0.0	.	100;219	P10747-2;P10747	.;CD28_HUMAN	C	135;233;219;100	.	ENSP00000324890:R219C	R	+	1	0	CD28	204307872	0.997000	0.39634	1.000000	0.80357	0.975000	0.68041	1.644000	0.37228	2.555000	0.86185	0.655000	0.94253	CGC	CD28	-	prints_CD28	ENSG00000178562		0.627	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD28	HGNC	protein_coding	OTTHUMT00000256366.3	114	0.00	0	C	NM_006139		204599627	204599627	+1	no_errors	ENST00000324106	ensembl	human	known	69_37n	missense	118	16.90	24	SNP	1.000	T
CD36	948	genome.wustl.edu	37	7	80302117	80302117	+	Missense_Mutation	SNP	G	G	A	rs187500047		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:80302117G>A	ENST00000435819.1	+	15	1841	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	CD36_ENST00000433696.2_Missense_Mutation_p.R347Q|CD36_ENST00000432207.1_Missense_Mutation_p.R386Q|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.R326Q|CD36_ENST00000309881.7_Missense_Mutation_p.R386Q|CD36_ENST00000394788.3_Missense_Mutation_p.R386Q|CD36_ENST00000447544.2_Missense_Mutation_p.R386Q|CD36_ENST00000534394.1_Missense_Mutation_p.R310Q			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	386			R -> W (in dbSNP:rs148910227). {ECO:0000269|Ref.7}.		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TTTGCAAAACGGCTGCAGGTC	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		15712	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	64.0	64.0					7																	80302117		2201	4298	6499	-	-	-	SO:0001583	missense	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1157G>A	7.37:g.80302117G>A	ENSP00000399421:p.Arg386Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.R386Q	ENST00000435819.1	37	c.1157	CCDS34673.1	7	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	24.2	4.499915	0.85176	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.06	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	M	0.93420	3.415	0.80722	D	1	D	0.65815	0.995	P	0.58013	0.831	D	0.93035	0.6452	9	.	.	.	-9.0379	13.0021	0.58681	0.0842:0.0:0.9158:0.0	.	386	P16671	CD36_HUMAN	Q	386;386;310;386;386;386;386;326;347	ENSP00000399421:R386Q;ENSP00000308165:R386Q;ENSP00000431296:R310Q;ENSP00000378268:R386Q;ENSP00000415743:R386Q;ENSP00000411411:R386Q;ENSP00000392298:R386Q;ENSP00000439543:R326Q;ENSP00000401863:R347Q	.	R	+	2	0	CD36	80140053	1.000000	0.71417	0.949000	0.38748	0.879000	0.50718	2.991000	0.49409	1.135000	0.42183	0.591000	0.81541	CGG	CD36	-	pfam_CD36,prints_CD36	ENSG00000135218		0.294	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	47	0.00	0	G	NM_001001547		80302117	80302117	+1	no_errors	ENST00000309881	ensembl	human	known	69_37n	missense	24	58.62	34	SNP	1.000	A
CD4	920	genome.wustl.edu	37	12	6925451	6925451	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:6925451G>A	ENST00000011653.4	+	6	1095	c.837G>A	c.(835-837)ccG>ccA	p.P279P	CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	279	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGAAGCTCCCGCTCCACCTCA	0.547																																						dbGAP											0													87.0	71.0	76.0					12																	6925451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.837G>A	12.37:g.6925451G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.P279	ENST00000011653.4	37	c.837	CCDS8562.1	12																																																																																			CD4	-	pfam_CD4-extracel,smart_Ig_sub,prints_Ag_CD4	ENSG00000010610		0.547	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	414	0.00	0	G	NM_000616		6925451	6925451	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	silent	322	22.41	93	SNP	0.000	A
CD44	960	genome.wustl.edu	37	11	35218403	35218405	+	In_Frame_Del	DEL	ACA	ACA	-	rs145413947		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:35218403_35218405delACA	ENST00000428726.2	+	6	901_903	c.778_780delACA	c.(778-780)acadel	p.T262del	CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_In_Frame_Del_p.T262del|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_In_Frame_Del_p.T262del|CD44_ENST00000278386.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433354.2_In_Frame_Del_p.T262del|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433892.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	262	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TCATCTTCACACAACAACACAAA	0.389																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.778_780delACA	11.37:g.35218409_35218411delACA	ENSP00000398632:p.Thr262del	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	In_Frame_Del	DEL	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link	p.T262in_frame_del	ENST00000428726.2	37	c.778_780	CCDS7897.1	11																																																																																			CD44	-	NULL	ENSG00000026508		0.389	CD44-001	KNOWN	basic|CCDS	protein_coding	CD44	HGNC	protein_coding	OTTHUMT00000388927.1	70	0.00	0	ACA	NM_000610		35218403	35218405	+1	no_errors	ENST00000428726	ensembl	human	known	69_37n	in_frame_del	65	16.67	13	DEL	0.995:0.993:0.986	-
CD84	8832	genome.wustl.edu	37	1	160535225	160535225	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:160535225G>A	ENST00000311224.4	-	2	423	c.357C>T	c.(355-357)acC>acT	p.T119T	CD84_ENST00000368048.3_Silent_p.T119T|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Silent_p.T119T|CD84_ENST00000368054.3_Silent_p.T119T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	119	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCTTGGTGGTGGTGTAGGGAT	0.443																																						dbGAP											0													316.0	247.0	270.0					1																	160535225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.357C>T	1.37:g.160535225G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.T119	ENST00000311224.4	37	c.357	CCDS53396.1	1																																																																																			CD84	-	smart_Ig_sub	ENSG00000066294		0.443	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	HGNC	protein_coding	OTTHUMT00000059092.1	286	0.00	0	G	NM_003874		160535225	160535225	-1	no_errors	ENST00000311224	ensembl	human	known	69_37n	silent	280	12.50	40	SNP	0.776	A
CD96	10225	genome.wustl.edu	37	3	111325589	111325589	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:111325589A>G	ENST00000283285.5	+	9	1309	c.1178A>G	c.(1177-1179)gAa>gGa	p.E393G	CD96_ENST00000438817.2_Missense_Mutation_p.E377G|CD96_ENST00000352690.4_Missense_Mutation_p.E377G	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	393	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGTGTTACAGAATCTACCCTT	0.363									Opitz Trigonocephaly syndrome																													dbGAP											0													109.0	102.0	104.0					3																	111325589		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1178A>G	3.37:g.111325589A>G	ENSP00000283285:p.Glu393Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPB3	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.E393G	ENST00000283285.5	37	c.1178	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	A	8.143	0.785708	0.16189	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.67523	-0.17;-0.17;-0.27	4.28	-1.1	0.09872	.	0.399959	0.25400	N	0.030959	T	0.36468	0.0968	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.12013	0.002;0.004;0.002;0.005	B;B;B;B	0.11329	0.003;0.006;0.003;0.004	T	0.11372	-1.0590	10	0.20519	T	0.43	-1.2169	4.0463	0.09774	0.4296:0.3622:0.2082:0.0	.	377;377;393;377	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	G	377;393;377	ENSP00000342040:E377G;ENSP00000283285:E393G;ENSP00000389801:E377G	ENSP00000283285:E393G	E	+	2	0	CD96	112808279	0.071000	0.21146	0.006000	0.13384	0.026000	0.11368	0.436000	0.21526	-0.160000	0.11002	0.528000	0.53228	GAA	CD96	-	NULL	ENSG00000153283		0.363	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	116	0.00	0	A			111325589	111325589	+1	no_errors	ENST00000283285	ensembl	human	known	69_37n	missense	115	18.44	26	SNP	0.009	G
CDC5L	988	genome.wustl.edu	37	6	44360566	44360569	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:44360566_44360569delGTAA	ENST00000371477.3	+	3	610		c.e3+1			NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like						cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATTTCTTCTGTAAGTGAGTCTTC	0.382																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.311+1GTAA>-	6.37:g.44360566_44360569delGTAA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76N46|Q99974	Splice_Site	DEL	-	e3+1	ENST00000371477.3	37	c.311+1_311+1	CCDS4912.1	6																																																																																			CDC5L	-	-	ENSG00000096401		0.382	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	122	0.00	0	GTAA		Intron	44360566	44360569	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	splice_site_del	110	28.39	44	DEL	1.000:1.000:1.000:1.000	-
CDC73	79577	genome.wustl.edu	37	1	193205421	193205421	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:193205421C>T	ENST00000367435.3	+	15	1536	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	CDC73_ENST00000477868.1_Intron	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	451	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAGGGTCCTGCATGGCAGTTC	0.448																																						dbGAP											0													190.0	180.0	183.0					1																	193205421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1352C>T	1.37:g.193205421C>T	ENSP00000356405:p.Ala451Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.A451V	ENST00000367435.3	37	c.1352	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922183	0.73213	.	.	ENSG00000134371	ENST00000367435	T	0.66815	-0.23	5.45	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.86178	2.8	0.80722	D	1	B	0.24618	0.107	B	0.30716	0.119	T	0.71787	-0.4487	10	0.46703	T	0.11	-12.6943	14.2405	0.65954	0.0:0.9283:0.0:0.0717	.	451	Q6P1J9	CDC73_HUMAN	V	451	ENSP00000356405:A451V	ENSP00000356405:A451V	A	+	2	0	CDC73	191472044	1.000000	0.71417	0.838000	0.33150	0.974000	0.67602	7.549000	0.82163	1.318000	0.45170	-0.258000	0.10820	GCA	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.448	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	194	0.00	0	C	NM_024529		193205421	193205421	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	205	25.99	72	SNP	0.999	T
CDH1	999	genome.wustl.edu	37	16	68867410	68867411	+	3'UTR	DEL	GA	GA	-	rs201223411		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:68867410_68867411delGA	ENST00000261769.5	+	0	2848_2849				CDH1_ENST00000422392.2_3'UTR|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TAGGGGACTCGAGAGAGGCGGG	0.53			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.*9GA>-	16.37:g.68867414_68867415delGA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	RNA	DEL	-	NULL	ENST00000261769.5	37	NULL	CCDS10869.1	16																																																																																			CDH1	-	-	ENSG00000039068		0.530	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	70	0.00	0	GA	NM_004360		68867410	68867411	+1	no_errors	ENST00000562836	ensembl	human	known	69_37n	rna	41	14.58	7	DEL	0.000:0.000	-
CDH16	1014	genome.wustl.edu	37	16	66945906	66945906	+	Frame_Shift_Del	DEL	G	G	-	rs201746927		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:66945906delG	ENST00000299752.4	-	13	1879	c.1686delC	c.(1684-1686)cccfs	p.P562fs	CDH16_ENST00000568632.1_Frame_Shift_Del_p.P465fs|CDH16_ENST00000394055.3_Frame_Shift_Del_p.P562fs|CDH16_ENST00000565796.1_Frame_Shift_Del_p.P562fs|CDH16_ENST00000570262.1_Frame_Shift_Del_p.P482fs	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTCCAACTTGGGGGGTGGCA	0.662																																						dbGAP											0													100.0	94.0	96.0					16																	66945906		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1686delC	16.37:g.66945906delG	ENSP00000299752:p.Pro562fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPA8|H3BPD3|Q6UW93	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K563fs	ENST00000299752.4	37	c.1686	CCDS10823.1	16																																																																																			CDH16	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166589		0.662	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	45	0.00	0	G	NM_004062		66945906	66945906	-1	no_errors	ENST00000299752	ensembl	human	known	69_37n	frame_shift_del	5	44.44	4	DEL	0.250	-
CDH23	64072	genome.wustl.edu	37	10	73567447	73567447	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:73567447C>T	ENST00000224721.6	+	58	8503	c.8498C>T	c.(8497-8499)aCa>aTa	p.T2833I	CDH23_ENST00000398788.3_Missense_Mutation_p.T588I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2828	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> G (in USH1D; atypical). {ECO:0000269|PubMed:12075507}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCTGACCTCACACTGCAGGAG	0.612																																						dbGAP											0													35.0	38.0	37.0					10																	73567447		2170	4259	6429	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8498C>T	10.37:g.73567447C>T	ENSP00000224721:p.Thr2833Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T2831I	ENST00000224721.6	37	c.8492		10	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888759	0.72524	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58652	0.32	5.6	3.68	0.42216	Cadherin (3);	0.188421	0.43919	D	0.000519	T	0.66005	0.2746	M	0.73962	2.25	0.52099	D	0.999941	B;B	0.33748	0.423;0.089	B;B	0.42087	0.375;0.158	T	0.69187	-0.5211	10	0.72032	D	0.01	.	16.1346	0.81475	0.0:0.7481:0.2519:0.0	.	2828;2828	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2833;2828;2831;588	ENSP00000381768:T588I	ENSP00000224721:T2833I	T	+	2	0	CDH23	73237453	1.000000	0.71417	0.993000	0.49108	0.968000	0.65278	4.139000	0.58024	0.666000	0.31087	0.544000	0.68410	ACA	CDH23	-	smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	38	0.00	0	C	NM_052836		73567447	73567447	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.990	T
CDH26	60437	genome.wustl.edu	37	20	58559803	58559803	+	Silent	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:58559803T>G	ENST00000244047.5	+	6	962	c.651T>G	c.(649-651)ggT>ggG	p.G217G	CDH26_ENST00000348616.4_Silent_p.G217G			Q8IXH8	CAD26_HUMAN	cadherin 26	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAAAGTGGTTTCCGGGTTG	0.368																																						dbGAP											0													135.0	139.0	138.0					20																	58559803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.651T>G	20.37:g.58559803T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G217	ENST00000244047.5	37	c.651		20																																																																																			CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.368	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		190	0.52	1	T	NM_177980		58559803	58559803	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	silent	192	14.98	34	SNP	0.019	G
CDK5R1	8851	genome.wustl.edu	37	17	30814819	30814821	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:30814819_30814821delAAG	ENST00000313401.3	+	2	870_872	c.181_183delAAG	c.(181-183)aagdel	p.K63del		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	63					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGTGTCGGCCAAGAAGAAGAACT	0.547																																						dbGAP											0										184,4080		92,0,2040						4.3	1.0			96	411,7843		205,1,3921	no	coding	CDK5R1	NM_003885.2		297,1,5961	A1A1,A1R,RR		4.9794,4.3152,4.7532				595,11923				-	-	-	SO:0001651	inframe_deletion	0			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.181_183delAAG	17.37:g.30814825_30814827delAAG	ENSP00000318486:p.Lys63del	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P664|Q5U0G3	In_Frame_Del	DEL	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.K63in_frame_del	ENST00000313401.3	37	c.181_183	CCDS11273.1	17																																																																																			CDK5R1	-	pfam_CDK5_activator,pirsf_CDK5_activator	ENSG00000176749		0.547	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	HGNC	protein_coding	OTTHUMT00000256264.1	43	0.00	0	AAG	NM_003885		30814819	30814821	+1	no_errors	ENST00000313401	ensembl	human	known	69_37n	in_frame_del	8	33.33	4	DEL	1.000:1.000:1.000	-
CDK12	51755	genome.wustl.edu	37	17	37618446	37618446	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:37618446A>C	ENST00000447079.4	+	1	155	c.122A>C	c.(121-123)aAg>aCg	p.K41T	CDK12_ENST00000430627.2_Missense_Mutation_p.K41T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	41					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTGGTATCGAAGCACAAGCGG	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													94.0	88.0	90.0					17																	37618446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.122A>C	17.37:g.37618446A>C	ENSP00000398880:p.Lys41Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K41T	ENST00000447079.4	37	c.122	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293773	0.60086	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.76186	-0.97;-1.0	4.7	4.7	0.59300	.	0.000000	0.47093	D	0.000242	T	0.72574	0.3477	N	0.14661	0.345	0.47949	D	0.99955	D;D;D	0.67145	0.993;0.993;0.996	P;D;D	0.70227	0.787;0.968;0.944	T	0.76033	-0.3107	10	0.87932	D	0	-11.6058	9.2257	0.37405	0.9069:0.0:0.0931:0.0	.	41;41;41	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	T	41	ENSP00000407720:K41T;ENSP00000398880:K41T	ENSP00000407720:K41T	K	+	2	0	CDK12	34871972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.129000	0.57957	1.964000	0.57103	0.459000	0.35465	AAG	CDK12	-	NULL	ENSG00000167258		0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	50	0.00	0	A	NM_016507		37618446	37618446	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	C
CELSR1	9620	genome.wustl.edu	37	22	46929990	46929990	+	Silent	SNP	A	A	G	rs36051388		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:46929990A>G	ENST00000262738.3	-	1	3077	c.3078T>C	c.(3076-3078)ccT>ccC	p.P1026P	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Silent_p.P1026P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1026	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCCTTCATCAGGGTCGTTAG	0.542																																						dbGAP											0													84.0	84.0	84.0					22																	46929990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3078T>C	22.37:g.46929990A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_EGF-like_dom,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,pfscan_EG-like_dom,pfscan_Cadherin,prints_Cadherin	p.L401P	ENST00000262738.3	37	c.1202	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327287	0.01309	.	.	ENSG00000075275	ENST00000454637	.	.	.	3.99	-7.98	0.01135	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46965	-0.9153	4	.	.	.	.	1.5827	0.02638	0.4331:0.0983:0.1688:0.2998	.	.	.	.	P	401	.	.	L	-	2	0	CELSR1	45308654	0.000000	0.05858	0.030000	0.17652	0.047000	0.14425	-5.644000	0.00107	-3.706000	0.00118	-1.457000	0.01029	CTG	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.542	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	21	0.00	0	A	NM_014246		46929990	46929990	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454637	ensembl	human	putative	69_37n	missense	6	45.45	5	SNP	0.014	G
CENPF	1063	genome.wustl.edu	37	1	214818761	214818763	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:214818761_214818763delGAA	ENST00000366955.3	+	13	6016_6018	c.5848_5850delGAA	c.(5848-5850)gaadel	p.E1952del		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2048					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTCTGCCTTGAAGAAGAACTCT	0.404																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5848_5850delGAA	1.37:g.214818767_214818769delGAA	ENSP00000355922:p.Glu1952del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13171|Q13246|Q5VVM7	In_Frame_Del	DEL	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E1952in_frame_del	ENST00000366955.3	37	c.5848_5850	CCDS31023.1	1																																																																																			CENPF	-	NULL	ENSG00000117724		0.404	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	174	0.00	0	GAA	NM_016343		214818761	214818763	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	in_frame_del	182	18.75	42	DEL	0.995:1.000:1.000	-
CERS2	29956	genome.wustl.edu	37	1	150939652	150939652	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:150939652A>G	ENST00000271688.6	-	8	1025	c.639T>C	c.(637-639)caT>caC	p.H213H	CERS2_ENST00000561294.1_Silent_p.H204H|CERS2_ENST00000368954.5_Silent_p.H213H|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	213	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGGTGGCCACATGGTGGATGA	0.498																																						dbGAP											0													106.0	101.0	103.0					1																	150939652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.639T>C	1.37:g.150939652A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.H213	ENST00000271688.6	37	c.639	CCDS973.1	1																																																																																			CERS2	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000143418		0.498	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2	251	0.00	0	A	NM_022075		150939652	150939652	-1	no_errors	ENST00000271688	ensembl	human	known	69_37n	silent	208	15.45	38	SNP	0.857	G
CFB	629	genome.wustl.edu	37	6	31914322	31914322	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:31914322G>A	ENST00000425368.2	+	2	750	c.237G>A	c.(235-237)acG>acA	p.T79T	CFB_ENST00000556679.1_Silent_p.T581T|CFB_ENST00000456570.1_Silent_p.T581T|CFB_ENST00000477310.1_Intron	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	79	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCAGATCTACGGGGTCCTGGA	0.577																																						dbGAP											0													76.0	60.0	66.0					6																	31914322		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.237G>A	6.37:g.31914322G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	NULL	p.G42R	ENST00000425368.2	37	c.124	CCDS4729.1	6																																																																																			CFB	-	NULL	ENSG00000243649		0.577	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3	73	0.00	0	G	NM_001710		31914322	31914322	+1	no_errors	ENST00000460718	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	0.001	A
CGB2	114336	genome.wustl.edu	37	19	49536219	49536219	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49536219G>A	ENST00000359342.6	+	3	351	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	110						extracellular region (GO:0005576)				large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TGCAACTACCGCGATGTGCGC	0.672																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.233G>A	19.37:g.49536219G>A	ENSP00000352295:p.Arg78His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVM5	Missense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.R78H	ENST00000359342.6	37	c.233	CCDS12750.2	19	.	.	.	.	.	.	.	.	.	.	g	3.861	-0.029875	0.07543	.	.	ENSG00000104818	ENST00000538959;ENST00000359342	D	0.91464	-2.85	1.79	-1.95	0.07548	Cystine knot (2);	0.482216	0.20315	N	0.094760	T	0.78534	0.4298	N	0.25286	0.73	0.26305	N	0.977911	B;B;B	0.29612	0.251;0.037;0.212	B;B;B	0.25405	0.06;0.019;0.016	T	0.66180	-0.5988	10	0.34782	T	0.22	-16.4446	6.306	0.21139	0.6447:0.0:0.3553:0.0	.	110;80;96	Q6NT52;P01233;P01233-2	CGB2_HUMAN;CGHB_HUMAN;.	H	78	ENSP00000352295:R78H	ENSP00000352295:R78H	R	+	2	0	CGB2	54228031	0.002000	0.14202	0.799000	0.32177	0.101000	0.19017	-0.139000	0.10358	-0.428000	0.07339	0.184000	0.17185	CGC	CGB2	-	pfam_Cys_knot,smart_Gonadotropin_bsu	ENSG00000104818		0.672	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB2	HGNC	protein_coding	OTTHUMT00000316745.1	17	0.00	0	G	NM_033378		49536219	49536219	+1	no_errors	ENST00000359342	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	0.644	A
CHD1	1105	genome.wustl.edu	37	5	98223850	98223851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:98223850_98223851insT	ENST00000284049.3	-	16	2586_2587	c.2437_2438insA	c.(2437-2439)atgfs	p.M813fs	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CATCCGCACCATTTGTGAAAAA	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2438dupA	5.37:g.98223853_98223853dupT	ENSP00000284049:p.Met813fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.M813fs	ENST00000284049.3	37	c.2438_2437	CCDS34204.1	5																																																																																			CHD1	-	pfscan_Helicase_C	ENSG00000153922		0.317	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	42	0.00	0	-	NM_001270		98223850	98223851	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	frame_shift_ins	23	47.73	21	INS	1.000:1.000	T
CHD9	80205	genome.wustl.edu	37	16	53296923	53296923	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:53296923C>T	ENST00000398510.3	+	19	4321	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W	CHD9_ENST00000447540.1_Missense_Mutation_p.R1412W|CHD9_ENST00000566029.1_Missense_Mutation_p.R1412W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1412W			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1412					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGGAAACCGGACAGATAT	0.353																																						dbGAP											0													117.0	106.0	110.0					16																	53296923		1828	4090	5918	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4234C>T	16.37:g.53296923C>T	ENSP00000381522:p.Arg1412Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1412W	ENST00000398510.3	37	c.4234		16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167520	0.78339	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.85013	-1.93;-1.93	5.42	4.45	0.53987	.	0.000000	0.50627	D	0.000110	D	0.92740	0.7692	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.999;0.99;0.996	D	0.93620	0.6947	10	0.87932	D	0	-10.4413	13.4474	0.61148	0.3431:0.6569:0.0:0.0	.	938;1412;1412;1412	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	W	1412;1412;938	ENSP00000396345:R1412W;ENSP00000381522:R1412W	ENSP00000219084:R938W	R	+	1	2	CHD9	51854424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.863000	0.39459	1.226000	0.43582	0.655000	0.94253	CGG	CHD9	-	NULL	ENSG00000177200		0.353	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	117	0.84	1	C	NM_025134		53296923	53296923	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	102	27.66	39	SNP	1.000	T
CHST1	8534	genome.wustl.edu	37	11	45671375	45671375	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:45671375C>T	ENST00000308064.2	-	4	1769	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	367					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCACGATGTCGTAGGAGAGG	0.662																																						dbGAP											0													50.0	53.0	52.0					11																	45671375		2203	4299	6502	-	-	-	SO:0001583	missense	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1099G>A	11.37:g.45671375C>T	ENSP00000309270:p.Asp367Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQP2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.D367N	ENST00000308064.2	37	c.1099	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696079	0.88830	.	.	ENSG00000175264	ENST00000308064	D	0.81821	-1.54	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.102602	0.64402	D	0.000004	D	0.85639	0.5743	L	0.58101	1.795	0.58432	D	0.999999	D	0.61697	0.99	P	0.58454	0.839	D	0.85401	0.1131	10	0.38643	T	0.18	-13.887	17.4573	0.87610	0.0:1.0:0.0:0.0	.	367	O43916	CHST1_HUMAN	N	367	ENSP00000309270:D367N	ENSP00000309270:D367N	D	-	1	0	CHST1	45627951	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.083000	0.71326	2.099000	0.63709	0.313000	0.20887	GAC	CHST1	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000175264		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	28	0.00	0	C	NM_003654		45671375	45671375	-1	no_errors	ENST00000308064	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120152115	120152115	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:120152115C>T	ENST00000261833.7	-	32	4119	c.4067G>A	c.(4066-4068)cGc>cAc	p.R1356H	MIR1178_ENST00000408396.1_RNA|CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1398H	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1356					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGTGCATGCGTTCCTTAAG	0.453																																						dbGAP											0													179.0	139.0	152.0					12																	120152115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4067G>A	12.37:g.120152115C>T	ENSP00000261833:p.Arg1356His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1356H	ENST00000261833.7	37	c.4067	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.009895|6.009895	0.97200|0.97200	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|D;D	.|0.84873	.|-1.91;-1.91	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.057396	.|0.64402	.|D	.|0.000002	D|D	0.92166|0.92166	0.7516|0.7516	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.991;0.963	D|D	0.91721|0.91721	0.5389|0.5389	5|10	.|0.72032	.|D	.|0.01	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1398;1356;874	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	969|1398;1356	.|ENSP00000376306:R1398H;ENSP00000261833:R1356H	.|ENSP00000261833:R1356H	A|R	-|-	1|2	0|0	CIT|CIT	118636498|118636498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	7.196000|7.196000	0.77805|0.77805	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|CGC	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.453	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	91	0.00	0	C	NM_007174		120152115	120152115	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	110	19.12	26	SNP	1.000	T
CKAP2L	150468	genome.wustl.edu	37	2	113498498	113498500	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAC	GAC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:113498498_113498500delGAC	ENST00000302450.6	-	8	1985_1987	c.1907_1909delGTC	c.(1906-1911)tgtctt>ttt	p.636_637CL>F	CKAP2L_ENST00000541405.1_In_Frame_Del_p.471_472CL>F|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	636						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTGGAGAAAGACAAGACTTCAC	0.433																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1907_1909delGTC	2.37:g.113498498_113498500delGAC	ENSP00000305204:p.Cys636_Leu637delinsPhe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	In_Frame_Del	DEL	NULL	p.CL636in_frame_delF	ENST00000302450.6	37	c.1909_1907	CCDS2100.1	2																																																																																			CKAP2L	-	NULL	ENSG00000169607		0.433	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	183	0.00	0	GAC	NM_152515		113498498	113498500	-1	no_errors	ENST00000302450	ensembl	human	known	69_37n	in_frame_del	153	18.85	36	DEL	0.012:0.008:0.007	-
CKAP2L	150468	genome.wustl.edu	37	2	113514376	113514376	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:113514376A>T	ENST00000302450.6	-	4	650	c.572T>A	c.(571-573)aTc>aAc	p.I191N	CKAP2L_ENST00000541405.1_Missense_Mutation_p.I26N|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	191						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTGTTAAGATATCGAGCAA	0.323																																						dbGAP											0													97.0	102.0	100.0					2																	113514376		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.572T>A	2.37:g.113514376A>T	ENSP00000305204:p.Ile191Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.I191N	ENST00000302450.6	37	c.572	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	A	3.858	-0.030379	0.07543	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11277	2.79;3.45	4.34	-3.73	0.04398	.	0.406287	0.20110	N	0.099035	T	0.04318	0.0119	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22695	-1.0209	10	0.45353	T	0.12	2.6596	3.4848	0.07615	0.3431:0.0:0.2502:0.4067	.	191	Q8IYA6	CKP2L_HUMAN	N	26;191	ENSP00000438763:I26N;ENSP00000305204:I191N	ENSP00000305204:I191N	I	-	2	0	CKAP2L	113230847	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.227000	0.09126	-0.740000	0.04803	-1.054000	0.02325	ATC	CKAP2L	-	NULL	ENSG00000169607		0.323	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	120	0.00	0	A	NM_152515		113514376	113514376	-1	no_errors	ENST00000302450	ensembl	human	known	69_37n	missense	111	31.90	52	SNP	0.000	T
CLASRP	11129	genome.wustl.edu	37	19	45556129	45556129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:45556129delC	ENST00000221455.3	+	4	376	c.278delC	c.(277-279)accfs	p.T93fs	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Frame_Shift_Del_p.T93fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCGACTACACCCCCCCTCTG	0.612																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)											143.0	119.0	127.0					19																	45556129		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.278delC	19.37:g.45556129delC	ENSP00000221455:p.Thr93fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Del	DEL	pfam_SWAP_N_domain	p.P95fs	ENST00000221455.3	37	c.278	CCDS12652.2	19																																																																																			CLASRP	-	pfam_SWAP_N_domain	ENSG00000104859		0.612	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	147	0.00	0	C	NM_007056		45556129	45556129	+1	no_errors	ENST00000221455	ensembl	human	known	69_37n	frame_shift_del	124	10.79	15	DEL	0.989	-
CLCA1	1179	genome.wustl.edu	37	1	86948050	86948052	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:86948050_86948052delACA	ENST00000234701.3	+	6	1071_1073	c.720_722delACA	c.(718-723)gcacaa>gca	p.Q241del	CLCA1_ENST00000394711.1_In_Frame_Del_p.Q241del			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	241					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TAATGTTTGCACAACATGTTGAT	0.419																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.720_722delACA	1.37:g.86948053_86948055delACA	ENSP00000234701:p.Gln241del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	In_Frame_Del	DEL	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q241in_frame_del	ENST00000234701.3	37	c.720_722	CCDS709.1	1																																																																																			CLCA1	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016490		0.419	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	123	0.00	0	ACA	NM_001285		86948050	86948052	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	in_frame_del	74	28.85	30	DEL	0.413:0.771:0.753	-
CLCN4	1183	genome.wustl.edu	37	X	10180693	10180693	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:10180693G>A	ENST00000380833.4	+	10	1967	c.1576G>A	c.(1576-1578)Ggt>Agt	p.G526S	CLCN4_ENST00000380829.1_Splice_Site_p.G495S|CLCN4_ENST00000421085.2_Splice_Site_p.G432S	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	526					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCCTGCCTCGGTACGACCAT	0.572																																					Melanoma(74;1050 1296 1576 30544 38374)	dbGAP											0													34.0	25.0	28.0					X																	10180693		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1576+1G>A	X.37:g.10180693G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.G526S	ENST00000380833.4	37	c.1576	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948900	0.92660	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93426	-3.22;-3.22;-3.22	5.69	5.69	0.88448	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	L	0.60957	1.885	0.80722	D	1	P	0.45827	0.867	P	0.53593	0.73	D	0.95063	0.8197	10	0.62326	D	0.03	-19.6061	18.8968	0.92426	0.0:0.0:1.0:0.0	.	526	P51793	CLCN4_HUMAN	S	526;495;432	ENSP00000370213:G526S;ENSP00000370209:G495S;ENSP00000405754:G432S	ENSP00000370209:G495S	G	+	1	0	CLCN4	10140693	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.667000	0.98616	2.411000	0.81874	0.600000	0.82982	GGT	CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000073464		0.572	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	24	0.00	0	G		Missense_Mutation	10180693	10180693	+1	no_errors	ENST00000380833	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	1.000	A
CLDN16	10686	genome.wustl.edu	37	3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:190120187G>A	ENST00000264734.2	+	2	634	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	129					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488																																						dbGAP											0													183.0	166.0	172.0					3																	190120187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.386G>A	3.37:g.190120187G>A	ENSP00000264734:p.Arg129His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.R129H	ENST00000264734.2	37	c.386	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221367	0.58560	.	.	ENSG00000113946	ENST00000264734	D	0.88509	-2.39	5.72	5.72	0.89469	Claudin, conserved site (1);	0.078352	0.53938	D	0.000043	D	0.90075	0.6900	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.85879	0.1421	10	0.15499	T	0.54	-30.0013	8.3904	0.32524	0.1647:0.0:0.8353:0.0	.	129	Q9Y5I7	CLD16_HUMAN	H	129	ENSP00000264734:R129H	ENSP00000264734:R129H	R	+	2	0	CLDN16	191602881	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	3.165000	0.50778	2.707000	0.92482	0.650000	0.86243	CGC	CLDN16	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000113946		0.488	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	83	0.00	0	G	NM_006580		190120187	190120187	+1	no_errors	ENST00000264734	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11065021	11065021	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:11065021T>C	ENST00000409790.1	+	5	762	c.532T>C	c.(532-534)Ttt>Ctt	p.F178L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.F178L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCATCAAGTTTTTCAACCA	0.428											OREG0023609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													134.0	121.0	125.0					16																	11065021		1872	4120	5992	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.532T>C	16.37:g.11065021T>C	ENSP00000387122:p.Phe178Leu	Somatic	669	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.F178L	ENST00000409790.1	37	c.532	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031564	0.93575	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.63096	-0.02	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.41573	1.285	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.79108	0.992;0.979	T	0.68671	-0.5347	10	0.31617	T	0.26	-12.8858	15.5759	0.76387	0.0:0.0:0.0:1.0	.	178;178	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	178	ENSP00000387122:F178L	ENSP00000386495:F178L	F	+	1	0	CLEC16A	10972522	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.883000	0.87264	2.272000	0.75746	0.459000	0.35465	TTT	CLEC16A	-	pfam_Uncharacterised_FPL	ENSG00000038532		0.428	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	46	0.00	0	T	NM_015226		11065021	11065021	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	C
CLEC16A	23274	genome.wustl.edu	37	16	11272354	11272354	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:11272354C>T	ENST00000409790.1	+	24	3199	c.2969C>T	c.(2968-2970)aCc>aTc	p.T990I	CLEC16A_ENST00000381822.2_Missense_Mutation_p.T77I	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGGCAGCCCACCATTTCCCTG	0.667																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											59.0	69.0	66.0					16																	11272354		2154	4248	6402	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2969C>T	16.37:g.11272354C>T	ENSP00000387122:p.Thr990Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.T990I	ENST00000409790.1	37	c.2969	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153094	0.78001	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.54279	0.58	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	L	0.27053	0.805	0.40591	D	0.981489	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.979	T	0.66590	-0.5885	10	0.87932	D	0	-29.805	15.032	0.71713	0.0:1.0:0.0:0.0	.	77;990	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	I	990;990;77	ENSP00000387122:T990I	ENSP00000371244:T77I	T	+	2	0	CLEC16A	11179855	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	ACC	CLEC16A	-	NULL	ENSG00000038532		0.667	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	57	0.00	0	C	NM_015226		11272354	11272354	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	T
CLEC7A	64581	genome.wustl.edu	37	12	10280420	10280421	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:10280420_10280421insA	ENST00000304084.8	-	2	281_282	c.127_128insT	c.(127-129)tggfs	p.W43fs	CLEC7A_ENST00000298523.5_Frame_Shift_Ins_p.W43fs|CLEC7A_ENST00000525605.1_Frame_Shift_Ins_p.W43fs|CLEC7A_ENST00000533022.1_Frame_Shift_Ins_p.W43fs|CLEC7A_ENST00000310002.4_Frame_Shift_Ins_p.W43fs|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000353231.5_Frame_Shift_Ins_p.W43fs	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	43					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AATGAGGCGCCAAGGAGGAGAT	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.128dupT	12.37:g.10280422_10280422dupA	ENSP00000302569:p.Trp43fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Frame_Shift_Ins	INS	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.W43fs	ENST00000304084.8	37	c.128_127	CCDS41753.1	12																																																																																			CLEC7A	-	NULL	ENSG00000172243		0.480	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	HGNC	protein_coding	OTTHUMT00000390772.1	18	0.00	0	-	NM_197954		10280420	10280421	-1	no_errors	ENST00000304084	ensembl	human	known	69_37n	frame_shift_ins	15	34.78	8	INS	0.969:0.967	A
CLOCK	9575	genome.wustl.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						dbGAP											2	Deletion - Frameshift(2)	ovary(1)|lung(1)											88.0	93.0	92.0					4																	56336954		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat	p.L123fs	ENST00000309964.4	37	c.368	CCDS3500.1	4																																																																																			CLOCK	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat	ENSG00000134852		0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	HGNC	protein_coding	OTTHUMT00000361993.2	79	0.00	0	A	NM_004898		56336954	56336954	-1	no_errors	ENST00000309964	ensembl	human	known	69_37n	frame_shift_del	66	27.17	25	DEL	1.000	-
CMKLR1	1240	genome.wustl.edu	37	12	108686289	108686289	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:108686289G>A	ENST00000312143.7	-	3	814	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151C|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149C|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151C|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149C	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	151					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R149C(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CGAACGCTGCGGTGGTTCTGG	0.572																																						dbGAP											1	Substitution - Missense(1)	lung(1)											75.0	78.0	77.0					12																	108686289		2148	4256	6404	-	-	-	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.451C>T	12.37:g.108686289G>A	ENSP00000311733:p.Arg151Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_DEZorph_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.R151C	ENST00000312143.7	37	c.451	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	19.02	3.745995	0.69418	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78876	-0.2031	10	0.87932	D	0	.	17.788	0.88543	0.0:0.0:1.0:0.0	.	151	Q99788	CML1_HUMAN	C	151;151;149;149;151	ENSP00000311733:R151C;ENSP00000401293:R151C;ENSP00000380803:R149C;ENSP00000447579:R149C;ENSP00000449716:R151C	ENSP00000311733:R151C	R	-	1	0	CMKLR1	107210419	1.000000	0.71417	0.999000	0.59377	0.270000	0.26580	7.854000	0.86942	2.448000	0.82819	0.486000	0.48141	CGC	CMKLR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt	ENSG00000174600		0.572	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	191	0.00	0	G			108686289	108686289	-1	no_errors	ENST00000312143	ensembl	human	known	69_37n	missense	118	18.06	26	SNP	1.000	A
CNGA3	1261	genome.wustl.edu	37	2	99006235	99006235	+	Silent	SNP	C	C	T	rs543175270		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:99006235C>T	ENST00000272602.2	+	5	603	c.564C>T	c.(562-564)tgC>tgT	p.C188C	CNGA3_ENST00000409937.1_Silent_p.C192C|CNGA3_ENST00000436404.2_Silent_p.C170C|CNGA3_ENST00000393504.1_Silent_p.C188C			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	188					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGCTTATTTGCAGGTAAGCGA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18579	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													85.0	75.0	79.0					2																	99006235		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.564C>T	2.37:g.99006235C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.C188	ENST00000272602.2	37	c.564	CCDS2034.1	2																																																																																			CNGA3	-	NULL	ENSG00000144191		0.612	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	76	0.00	0	C	NM_001298		99006235	99006235	+1	no_errors	ENST00000272602	ensembl	human	known	69_37n	silent	58	25.64	20	SNP	1.000	T
CNOT3	4849	genome.wustl.edu	37	19	54649495	54649495	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:54649495G>T	ENST00000406403.1	+	7	2248	c.645G>T	c.(643-645)caG>caT	p.Q215H	CNOT3_ENST00000358389.3_Missense_Mutation_p.Q34H|CNOT3_ENST00000221232.5_Missense_Mutation_p.Q215H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	215					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACTCATCCCAGGACCCCGACT	0.567																																						dbGAP											0													158.0	116.0	130.0					19																	54649495		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.645G>T	19.37:g.54649495G>T	ENSP00000383954:p.Gln215His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.Q215H	ENST00000406403.1	37	c.645	CCDS12880.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.085697|3.085697	0.55861|0.55861	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T|.	0.52983|.	0.64;0.64|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.32530|0.32530	0.975|0.975	0.48511|0.48511	D|D	0.999661|0.999661	D;D;D|.	0.76494|.	0.996;0.996;0.999|.	D;D;D|.	0.87578|.	0.995;0.995;0.998|.	T|T	0.46925|0.46925	-0.9156|-0.9156	10|5	0.52906|.	T|.	0.07|.	-26.8167|-26.8167	11.6217|11.6217	0.51121|0.51121	0.0899:0.0:0.9101:0.0|0.0899:0.0:0.9101:0.0	.|.	215;215;139|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	H|M	215;34;215|137	ENSP00000221232:Q215H;ENSP00000383954:Q215H|.	ENSP00000221232:Q215H|.	Q|R	+|+	3|2	2|0	CNOT3|CNOT3	59341307|59341307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	3.018000|3.018000	0.49625|0.49625	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	CAG|AGG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.567	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	112	0.00	0	G	NM_014516		54649495	54649495	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	1.000	T
CNOT4	4850	genome.wustl.edu	37	7	135100012	135100012	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:135100012C>A	ENST00000315544.5	-	4	652		c.e4-1		CNOT4_ENST00000356162.4_Splice_Site|CNOT4_ENST00000414802.1_Splice_Site|CNOT4_ENST00000361528.4_Splice_Site|CNOT4_ENST00000428680.2_Splice_Site|CNOT4_ENST00000423368.2_Splice_Site|CNOT4_ENST00000541284.1_Splice_Site|CNOT4_ENST00000451834.1_Splice_Site	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTTTTAAAACCTATAAAAGAA	0.313																																					Ovarian(51;766 1130 5502 35047 50875)	dbGAP											0													103.0	100.0	101.0					7																	135100012		1800	4071	5871	-	-	-	SO:0001630	splice_region_variant	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.373-1G>T	7.37:g.135100012C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Splice_Site	SNP	-	e3-1	ENST00000315544.5	37	c.373-1	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525463	0.85600	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4718	0.94966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNOT4	134750552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.665000	0.90641	0.557000	0.71058	.	CNOT4	-	-	ENSG00000080802		0.313	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		241	0.00	0	C	NM_013316	Intron	135100012	135100012	-1	no_errors	ENST00000541284	ensembl	human	known	69_37n	splice_site	200	11.11	25	SNP	1.000	A
CNPPD1	27013	genome.wustl.edu	37	2	220037413	220037413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:220037413delG	ENST00000409789.1	-	9	1555	c.1128delC	c.(1126-1128)cccfs	p.P376fs	SLC23A3_ENST00000396775.3_5'Flank|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|CNPPD1_ENST00000360507.5_Frame_Shift_Del_p.P376fs|SLC23A3_ENST00000455516.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	376	Pro-rich.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TCCAAGGCCAGGGGGGAGCCA	0.602																																						dbGAP											0													56.0	58.0	57.0					2																	220037413		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.1128delC	2.37:g.220037413delG	ENSP00000386277:p.Pro376fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC77|O75548|Q9H4N0|Q9UQN0	Frame_Shift_Del	DEL	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.W377fs	ENST00000409789.1	37	c.1128	CCDS2433.1	2																																																																																			CNPPD1	-	NULL	ENSG00000115649		0.602	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	HGNC	protein_coding	OTTHUMT00000336220.1	64	0.00	0	G	NM_015680		220037413	220037413	-1	no_errors	ENST00000360507	ensembl	human	known	69_37n	frame_shift_del	41	17.65	9	DEL	0.041	-
CNTN6	27255	genome.wustl.edu	37	3	1337403	1337403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:1337403delG	ENST00000446702.2	+	6	1200	c.573delG	c.(571-573)gtgfs	p.V191fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.V191fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.V119fs			Q9UQ52	CNTN6_HUMAN	contactin 6	191	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATCAGATGTGGGCAACTACA	0.443																																						dbGAP											0													97.0	88.0	91.0					3																	1337403		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.573delG	3.37:g.1337403delG	ENSP00000407822:p.Val191fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G192fs	ENST00000446702.2	37	c.573	CCDS2557.1	3																																																																																			CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000134115		0.443	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	101	0.00	0	G	NM_014461		1337403	1337403	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	frame_shift_del	97	21.60	27	DEL	1.000	-
CNTNAP2	26047	genome.wustl.edu	37	7	147336368	147336368	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:147336368T>C	ENST00000361727.3	+	13	2584	c.2068T>C	c.(2068-2070)Tgc>Cgc	p.C690R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	690	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCCTATTTCTGCAAGATGTC	0.448										HNSCC(39;0.1)																												dbGAP											0													106.0	82.0	90.0					7																	147336368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2068T>C	7.37:g.147336368T>C	ENSP00000354778:p.Cys690Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.C690R	ENST00000361727.3	37	c.2068	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206493	0.79127	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.18174	2.23;2.23	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65936	-0.6047	10	0.54805	T	0.06	.	15.1642	0.72807	0.0:0.0:0.0:1.0	.	690	Q9UHC6	CNTP2_HUMAN	R	690;81	ENSP00000354778:C690R;ENSP00000392208:C81R	ENSP00000354778:C690R	C	+	1	0	CNTNAP2	146967301	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.450000	0.66626	2.317000	0.78254	0.459000	0.35465	TGC	CNTNAP2	-	NULL	ENSG00000174469		0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	144	0.00	0	T			147336368	147336368	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	129	18.87	30	SNP	1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	124783203	124783203	+	5'UTR	SNP	G	G	A	rs557468602		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:124783203G>A	ENST00000431078.1	+	0	340				AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGATTCGATTGGGAGGGACCG	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14677	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	84.0	82.0					2																	124783203		1981	4159	6140	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.-25G>A	2.37:g.124783203G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	RNA	SNP	-	NULL	ENST00000431078.1	37	NULL	CCDS46401.1	2																																																																																			CNTNAP5	-	-	ENSG00000155052		0.567	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	66	0.00	0	G			124783203	124783203	+1	no_errors	ENST00000423939	ensembl	human	putative	69_37n	rna	39	15.22	7	SNP	0.316	A
COBLL1	22837	genome.wustl.edu	37	2	165548780	165548781	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:165548780_165548781delCT	ENST00000392717.2	-	14	3482_3483	c.3478_3479delAG	c.(3478-3480)agtfs	p.S1160fs	COBLL1_ENST00000409184.3_Frame_Shift_Del_p.S1122fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.S1084fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.S1189fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.S1122fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1160	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTCAGCAAACTCTGTCGCATC	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3478_3479delAG	2.37:g.165548782_165548783delCT	ENSP00000376478:p.Ser1160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.S1189fs	ENST00000392717.2	37	c.3566_3565		2																																																																																			COBLL1	-	pfscan_WH2_dom	ENSG00000082438		0.446	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		70	0.00	0	CT	NM_014900		165548780	165548781	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	frame_shift_del	64	15.79	12	DEL	1.000:1.000	-
COG6	57511	genome.wustl.edu	37	13	40253985	40253986	+	Intron	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:40253985_40253986insA	ENST00000455146.3	+	7	673				COG6_ENST00000465775.1_3'UTR|COG6_ENST00000416691.1_Intron	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6						glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GAAAATTATTGAAAAATCATCC	0.262																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.624-126->A	13.37:g.40253990_40253990dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	RNA	INS	-	NULL	ENST00000455146.3	37	NULL	CCDS9370.1	13																																																																																			COG6	-	-	ENSG00000133103		0.262	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3	27	0.00	0	-			40253985	40253986	+1	no_errors	ENST00000465775	ensembl	human	known	69_37n	rna	27	20.59	7	INS	0.000:0.000	A
COIL	8161	genome.wustl.edu	37	17	55027622	55027622	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:55027622G>A	ENST00000240316.4	-	2	1015	c.981C>T	c.(979-981)tgC>tgT	p.C327C		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	327						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATGACATCAAGCATTGGTCGT	0.522																																						dbGAP											0													89.0	84.0	86.0					17																	55027622		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.981C>T	17.37:g.55027622G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R931	Silent	SNP	NULL	p.C327	ENST00000240316.4	37	c.981	CCDS11592.1	17																																																																																			COIL	-	NULL	ENSG00000121058		0.522	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	139	0.00	0	G			55027622	55027622	-1	no_errors	ENST00000240316	ensembl	human	known	69_37n	silent	151	20.94	40	SNP	0.000	A
COL19A1	1310	genome.wustl.edu	37	6	70897842	70897842	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:70897842G>T	ENST00000322773.4	+	47	3022	c.2920G>T	c.(2920-2922)Ggc>Tgc	p.G974C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G596C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	974	Collagen-like 11.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGCCTTACAGGCATGAAGGG	0.542																																						dbGAP											0													76.0	74.0	74.0					6																	70897842		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2920G>T	6.37:g.70897842G>T	ENSP00000316030:p.Gly974Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G974C	ENST00000322773.4	37	c.2920	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477154	0.44044	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.99369	-5.78;-5.78	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.99743	0.9898	H	0.99011	4.4	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.97047	0.9761	10	0.87932	D	0	.	17.045	0.86500	0.0:0.0:1.0:0.0	.	974	Q14993	COJA1_HUMAN	C	974;596;49	ENSP00000316030:G974C;ENSP00000377013:G596C	ENSP00000316030:G974C	G	+	1	0	COL19A1	70954563	1.000000	0.71417	0.893000	0.35052	0.384000	0.30261	7.972000	0.88022	2.464000	0.83262	0.655000	0.94253	GGC	COL19A1	-	pfam_Collagen	ENSG00000082293		0.542	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	159	0.00	0	G			70897842	70897842	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	missense	116	22.67	34	SNP	1.000	T
COL19A1	1310	genome.wustl.edu	37	6	70916894	70916894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:70916894delC	ENST00000322773.4	+	51	3447	c.3345delC	c.(3343-3345)ggcfs	p.G1115fs	COL19A1_ENST00000393344.1_Frame_Shift_Del_p.G737fs	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1115					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCACAGGGCCCCCCAGGAC	0.527																																						dbGAP											0													135.0	160.0	151.0					6																	70916894		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3345delC	6.37:g.70916894delC	ENSP00000316030:p.Gly1115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Frame_Shift_Del	DEL	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P1117fs	ENST00000322773.4	37	c.3345	CCDS4970.1	6																																																																																			COL19A1	-	NULL	ENSG00000082293		0.527	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	210	0.00	0	C			70916894	70916894	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	frame_shift_del	200	13.25	31	DEL	0.958	-
COL22A1	169044	genome.wustl.edu	37	8	139629192	139629192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:139629192C>A	ENST00000303045.6	-	54	4281	c.3835G>T	c.(3835-3837)Gga>Tga	p.G1279*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1259*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1279	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGTGTCCCTTGAAGCCC	0.592										HNSCC(7;0.00092)																												dbGAP											0													82.0	81.0	81.0					8																	139629192		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3835G>T	8.37:g.139629192C>A	ENSP00000303153:p.Gly1279*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1279*	ENST00000303045.6	37	c.3835	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	47	13.194799	0.99726	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	4.35	4.35	0.52113	.	0.000000	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	.	.	.	X	1279;1259;972	.	ENSP00000303153:G1279X	G	-	1	0	COL22A1	139698374	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGA	COL22A1	-	pfam_Collagen	ENSG00000169436		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	56	0.00	0	C	XM_291257		139629192	139629192	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	nonsense	51	10.53	6	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	116940622	116940622	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:116940622C>T	ENST00000356083.3	+	4	2351	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	654	Collagen-like 1.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACGTGGGCCTCGGGTGAGTTA	0.582																																						dbGAP											0													190.0	173.0	179.0					9																	116940622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1960C>T	9.37:g.116940622C>T	ENSP00000348385:p.Arg654Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.R654W	ENST00000356083.3	37	c.1960	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631260	0.28978	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94537	-3.45;-3.22	4.93	4.02	0.46733	.	.	.	.	.	D	0.96015	0.8702	M	0.64260	1.97	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.95753	0.8793	9	0.66056	D	0.02	.	10.7372	0.46133	0.1901:0.8099:0.0:0.0	.	654;601	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	W	654;654;601;601	ENSP00000348385:R654W;ENSP00000391328:R601W	ENSP00000348385:R654W	R	+	1	2	COL27A1	115980443	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	5.169000	0.64984	1.412000	0.46977	-0.181000	0.13052	CGG	COL27A1	-	pfam_Collagen	ENSG00000196739		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	74	0.00	0	C	NM_032888		116940622	116940622	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	30	42.31	22	SNP	1.000	T
COL4A3	1285	genome.wustl.edu	37	2	228119378	228119378	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:228119378C>G	ENST00000396578.3	+	15	997	c.835C>G	c.(835-837)Cct>Gct	p.P279A	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	279	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACAGGGACTGCCTGGAGAATC	0.378																																						dbGAP											0													87.0	87.0	87.0					2																	228119378		1828	4088	5916	-	-	-	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.835C>G	2.37:g.228119378C>G	ENSP00000379823:p.Pro279Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P279A	ENST00000396578.3	37	c.835	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143380	0.57044	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.98633	-5.04	5.61	5.61	0.85477	.	0.108992	0.41605	D	0.000860	D	0.98883	0.9622	M	0.78285	2.405	0.48830	D	0.999711	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.85130	0.981;0.997;0.997;0.994	D	0.99709	1.1006	10	0.19147	T	0.46	.	15.1491	0.72684	0.0:1.0:0.0:0.0	.	279;279;279;279	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	A	279	ENSP00000379823:P279A	ENSP00000323334:P279A	P	+	1	0	COL4A3	227827622	0.958000	0.32768	0.967000	0.41034	0.504000	0.33889	2.229000	0.42990	2.635000	0.89317	0.650000	0.86243	CCT	COL4A3	-	NULL	ENSG00000169031		0.378	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	141	0.00	0	C	NM_000091		228119378	228119378	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	missense	173	15.94	33	SNP	0.984	G
COL4A3	1285	genome.wustl.edu	37	2	228128655	228128655	+	Missense_Mutation	SNP	C	C	T	rs148686474		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:228128655C>T	ENST00000396578.3	+	21	1472	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	437	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTCCAGGACCGCCAGGTAAA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16104	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													62.0	67.0	65.0					2																	228128655		1930	4119	6049	-	-	-	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1310C>T	2.37:g.228128655C>T	ENSP00000379823:p.Pro437Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P437L	ENST00000396578.3	37	c.1310	CCDS42829.1	2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.72	1.429604	0.25726	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93426	-3.22	6.02	2.04	0.26737	.	0.576308	0.16834	N	0.197615	D	0.91164	0.7217	L	0.31294	0.92	0.44956	D	0.997972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.963;0.999;0.984;0.979	D	0.85868	0.1414	10	0.11485	T	0.65	.	3.0952	0.06307	0.1412:0.4427:0.2925:0.1236	.	437;437;437;437	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	437	ENSP00000379823:P437L	ENSP00000323334:P437L	P	+	2	0	COL4A3	227836899	0.622000	0.27085	0.998000	0.56505	0.516000	0.34256	-0.197000	0.09518	0.804000	0.34136	0.655000	0.94253	CCG	COL4A3	-	pfam_Collagen	ENSG00000169031		0.592	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	58	0.00	0	C	NM_000091		228128655	228128655	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	missense	31	44.64	25	SNP	0.994	T
COL5A1	1289	genome.wustl.edu	37	9	137619148	137619148	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:137619148C>T	ENST00000371817.3	+	5	1105	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	231	Laminin G-like.|Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCGGACCACCGGGCAGCTTA	0.547																																						dbGAP											0													102.0	95.0	98.0					9																	137619148		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.691C>T	9.37:g.137619148C>T	ENSP00000360882:p.Arg231Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R231W	ENST00000371817.3	37	c.691	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634859	0.47049	.	.	ENSG00000130635	ENST00000371817	T	0.02258	4.37	4.19	1.93	0.25924	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.075617	0.52532	U	0.000062	T	0.10937	0.0267	M	0.83483	2.645	0.44194	D	0.997012	D	0.89917	1.0	P	0.62885	0.908	T	0.02226	-1.1192	10	0.87932	D	0	.	13.0071	0.58712	0.3397:0.6603:0.0:0.0	.	231	P20908	CO5A1_HUMAN	W	231	ENSP00000360882:R231W	ENSP00000360882:R231W	R	+	1	2	COL5A1	136758969	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.707000	0.37888	0.661000	0.30985	0.313000	0.20887	CGG	COL5A1	-	superfamily_ConA-like_lec_gl	ENSG00000130635		0.547	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	68	0.00	0	C	NM_000093		137619148	137619148	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	T
COL5A3	50509	genome.wustl.edu	37	19	10071553	10071553	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:10071553T>C	ENST00000264828.3	-	66	4950	c.4865A>G	c.(4864-4866)gAc>gGc	p.D1622G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1622	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCGTCGGCGTCCACGTAGGA	0.587																																						dbGAP											0													75.0	72.0	73.0					19																	10071553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4865A>G	19.37:g.10071553T>C	ENSP00000264828:p.Asp1622Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.D1622G	ENST00000264828.3	37	c.4865	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306228	0.23736	.	.	ENSG00000080573	ENST00000264828	T	0.73897	-0.79	4.03	4.03	0.46877	Fibrillar collagen, C-terminal (3);	0.000000	0.64402	U	0.000001	T	0.71600	0.3359	M	0.69185	2.1	0.51767	D	0.999934	B	0.28998	0.23	B	0.31495	0.131	T	0.73180	-0.4064	10	0.56958	D	0.05	.	10.9607	0.47383	0.0:0.0:0.0:1.0	.	1622	P25940	CO5A3_HUMAN	G	1622	ENSP00000264828:D1622G	ENSP00000264828:D1622G	D	-	2	0	COL5A3	9932553	1.000000	0.71417	0.915000	0.36163	0.178000	0.23041	6.091000	0.71406	1.700000	0.51204	0.379000	0.24179	GAC	COL5A3	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000080573		0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	116	0.00	0	T	NM_015719		10071553	10071553	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	missense	73	20.65	19	SNP	0.982	C
COL5A3	50509	genome.wustl.edu	37	19	10102688	10102688	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:10102688C>A	ENST00000264828.3	-	22	1970	c.1885G>T	c.(1885-1887)Ggc>Tgc	p.G629C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	629	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCACATTGCCTTTGGCACCA	0.552																																						dbGAP											0													190.0	145.0	160.0					19																	10102688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1885G>T	19.37:g.10102688C>A	ENSP00000264828:p.Gly629Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G629C	ENST00000264828.3	37	c.1885	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142862	0.57044	.	.	ENSG00000080573	ENST00000264828	D	0.99537	-6.11	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000001	D	0.99736	0.9896	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97252	0.9898	10	0.87932	D	0	.	13.5137	0.61528	0.0:1.0:0.0:0.0	.	629	P25940	CO5A3_HUMAN	C	629	ENSP00000264828:G629C	ENSP00000264828:G629C	G	-	1	0	COL5A3	9963688	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.890000	0.69774	2.224000	0.72417	0.561000	0.74099	GGC	COL5A3	-	NULL	ENSG00000080573		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	190	0.00	0	C	NM_015719		10102688	10102688	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	missense	133	14.74	23	SNP	1.000	A
COL5A3	50509	genome.wustl.edu	37	19	10103507	10103507	+	Missense_Mutation	SNP	C	C	T	rs375719134		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:10103507C>T	ENST00000264828.3	-	21	1929	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	615	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACTCACCGGGCGACCCGTGGG	0.597																																						dbGAP											0													54.0	56.0	55.0					19																	10103507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1844G>A	19.37:g.10103507C>T	ENSP00000264828:p.Arg615His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.R615H	ENST00000264828.3	37	c.1844	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733670	0.30684	.	.	ENSG00000080573	ENST00000264828	D	0.94280	-3.39	4.08	1.91	0.25777	.	0.199455	0.35466	N	0.003188	T	0.81259	0.4785	N	0.16656	0.425	0.27987	N	0.935819	P	0.46220	0.874	B	0.35971	0.215	T	0.76531	-0.2925	10	0.48119	T	0.1	.	2.3953	0.04388	0.2006:0.4979:0.194:0.1075	.	615	P25940	CO5A3_HUMAN	H	615	ENSP00000264828:R615H	ENSP00000264828:R615H	R	-	2	0	COL5A3	9964507	0.252000	0.23972	1.000000	0.80357	0.557000	0.35523	0.302000	0.19192	1.044000	0.40200	0.561000	0.74099	CGC	COL5A3	-	NULL	ENSG00000080573		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	85	0.00	0	C	NM_015719		10103507	10103507	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	0.986	T
COL6A3	1293	genome.wustl.edu	37	2	238274657	238274657	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:238274657A>G	ENST00000295550.4	-	12	5974	c.5522T>C	c.(5521-5523)cTg>cCg	p.L1841P	COL6A3_ENST00000409809.1_Missense_Mutation_p.L1635P|COL6A3_ENST00000353578.4_Missense_Mutation_p.L1635P|COL6A3_ENST00000472056.1_Missense_Mutation_p.L1234P|COL6A3_ENST00000346358.4_Missense_Mutation_p.L1641P|COL6A3_ENST00000347401.3_Missense_Mutation_p.L1640P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1841	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCAAACCCCAGAATCACATC	0.498																																						dbGAP											0													54.0	55.0	55.0					2																	238274657		2201	4289	6490	-	-	-	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5522T>C	2.37:g.238274657A>G	ENSP00000295550:p.Leu1841Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L1841P	ENST00000295550.4	37	c.5522	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484744	0.44147	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.164424	0.28560	N	0.014917	T	0.63058	0.2479	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;P	0.78314	0.979;0.991;0.823	T	0.64537	-0.6384	10	0.52906	T	0.07	.	15.8213	0.78648	1.0:0.0:0.0:0.0	.	1234;1635;1841	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	P	1841;1640;1635;1234;1635;1641	ENSP00000295550:L1841P;ENSP00000315609:L1640P;ENSP00000315873:L1635P;ENSP00000418285:L1234P;ENSP00000386844:L1635P;ENSP00000295546:L1641P	ENSP00000295550:L1841P	L	-	2	0	COL6A3	237939396	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.688000	0.91260	2.199000	0.70637	0.533000	0.62120	CTG	COL6A3	-	smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	104	0.00	0	A	NM_004369		238274657	238274657	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	missense	117	13.33	18	SNP	1.000	G
COL8A1	1295	genome.wustl.edu	37	3	99514534	99514534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:99514534delC	ENST00000261037.3	+	5	2169	c.1789delC	c.(1789-1791)cccfs	p.P598fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P598fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	598	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGCGTGAAACCCCCCCATGC	0.612																																						dbGAP											0													50.0	49.0	49.0					3																	99514534		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1789delC	3.37:g.99514534delC	ENSP00000261037:p.Pro598fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN42|Q53XI6|Q96D07	Frame_Shift_Del	DEL	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.H599fs	ENST00000261037.3	37	c.1789	CCDS2934.1	3																																																																																			COL8A1	-	NULL	ENSG00000144810		0.612	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	40	0.00	0	C	NM_001850		99514534	99514534	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	frame_shift_del	40	23.08	12	DEL	0.314	-
COPA	1314	genome.wustl.edu	37	1	160276146	160276146	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:160276146C>T	ENST00000241704.7	-	15	1669	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	COPA_ENST00000368069.3_Silent_p.K480K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	480					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATGTTACCGCTTCTGCTGTA	0.502																																						dbGAP											0													157.0	145.0	149.0					1																	160276146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1440G>A	1.37:g.160276146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K480	ENST00000241704.7	37	c.1440	CCDS1202.1	1																																																																																			COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.502	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	161	0.00	0	C	NM_004371		160276146	160276146	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	silent	182	18.39	41	SNP	1.000	T
COPG1	22820	genome.wustl.edu	37	3	128990673	128990673	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:128990673C>A	ENST00000314797.6	+	19	2011	c.1907C>A	c.(1906-1908)cCc>cAc	p.P636H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	636	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TCGCCTGAGCCCGTGGCCCTC	0.577																																						dbGAP											0													80.0	66.0	71.0					3																	128990673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1907C>A	3.37:g.128990673C>A	ENSP00000325002:p.Pro636His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.P636H	ENST00000314797.6	37	c.1907	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432054	0.62844	.	.	ENSG00000181789	ENST00000314797	T	0.34072	1.38	5.48	5.48	0.80851	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Coatomer, gamma subunit , appendage (1);Coatomer, gamma subunit, appendage, Ig-like subdomain (1);	0.082349	0.51477	D	0.000085	T	0.57504	0.2058	M	0.77103	2.36	0.52099	D	0.999946	D	0.65815	0.995	P	0.57620	0.824	T	0.62334	-0.6876	10	0.72032	D	0.01	-6.7549	16.849	0.85988	0.0:1.0:0.0:0.0	.	636	Q9Y678	COPG_HUMAN	H	636	ENSP00000325002:P636H	ENSP00000325002:P636H	P	+	2	0	COPG	130473363	1.000000	0.71417	0.984000	0.44739	0.377000	0.30045	5.869000	0.69613	2.589000	0.87451	0.650000	0.86243	CCC	COPG1	-	pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu	ENSG00000181789		0.577	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	39	0.00	0	C	NM_016128		128990673	128990673	+1	no_errors	ENST00000314797	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
CORIN	10699	genome.wustl.edu	37	4	47663872	47663872	+	Splice_Site	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:47663872C>T	ENST00000273857.4	-	12	1590	c.1591G>A	c.(1591-1593)Gca>Aca	p.A531T	CORIN_ENST00000505909.1_Splice_Site_p.A494T|CORIN_ENST00000504584.1_Splice_Site_p.A494T|CORIN_ENST00000502252.1_Splice_Site_p.A464T|CORIN_ENST00000508498.1_Splice_Site_p.A392T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	531	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACACAATGCCCTAGATGAA	0.403																																						dbGAP											0													54.0	50.0	51.0					4																	47663872		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1590-1G>A	4.37:g.47663872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A531T	ENST00000273857.4	37	c.1591	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	C	4.275	0.050234	0.08243	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.71	2.52	0.30459	Frizzled domain (5);	0.519966	0.20307	N	0.094915	T	0.40347	0.1113	N	0.03209	-0.39	0.29964	N	0.81912	B;B;B;B	0.13145	0.005;0.007;0.004;0.003	B;B;B;B	0.17722	0.006;0.019;0.015;0.015	T	0.31110	-0.9955	10	0.06365	T	0.9	.	1.7565	0.02983	0.1552:0.447:0.1638:0.234	.	494;494;464;531	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	T	531;392;464;494;494	ENSP00000273857:A531T;ENSP00000425597:A392T;ENSP00000424212:A464T;ENSP00000425401:A494T;ENSP00000423216:A494T	ENSP00000273857:A531T	A	-	1	0	CORIN	47358629	0.082000	0.21442	0.026000	0.17262	0.002000	0.02628	-0.072000	0.11486	0.719000	0.32188	0.650000	0.86243	GCA	CORIN	-	pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000145244		0.403	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	109	0.00	0	C		Missense_Mutation	47663872	47663872	-1	no_errors	ENST00000273857	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	0.870	T
CPSF3	51692	genome.wustl.edu	37	2	9597112	9597112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:9597112delA	ENST00000238112.3	+	14	1860	c.1654delA	c.(1654-1656)aaafs	p.K552fs	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Frame_Shift_Del_p.K515fs	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	552					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GAAAGTGTTCAAAAATATTAC	0.303																																					Colon(194;1259 2048 3845 5218 19985)	dbGAP											0													45.0	51.0	49.0					2																	9597112		2201	4294	6495	-	-	-	SO:0001589	frameshift_variant	0			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1654delA	2.37:g.9597112delA	ENSP00000238112:p.Lys552fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14769|Q53RS2|Q96F36	Frame_Shift_Del	DEL	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.N553fs	ENST00000238112.3	37	c.1654	CCDS1664.1	2																																																																																			CPSF3	-	pfam_CPSF73-100_C	ENSG00000119203		0.303	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	67	0.00	0	A	NM_016207		9597112	9597112	+1	no_errors	ENST00000238112	ensembl	human	known	69_37n	frame_shift_del	57	22.37	17	DEL	1.000	-
CR1	1378	genome.wustl.edu	37	1	207697123	207697123	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:207697123G>A	ENST00000367049.4	+	5	655	c.655G>A	c.(655-657)Gac>Aac	p.D219N	CR1_ENST00000367052.1_Missense_Mutation_p.D219N|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.D219N|CR1_ENST00000367053.1_Missense_Mutation_p.D219N|CR1_ENST00000367051.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	219	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCAGCAATGACGATCAAGT	0.512																																						dbGAP											0													21.0	20.0	20.0					1																	207697123		1774	4023	5797	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.655G>A	1.37:g.207697123G>A	ENSP00000356016:p.Asp219Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D219N	ENST00000367049.4	37	c.655	CCDS44308.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.43|13.43	2.233438|2.233438	0.39498|0.39498	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049|ENST00000529814	T;T;T;T;T|.	0.22134|.	1.97;1.97;1.97;1.97;1.97|.	4.02|4.02	4.02|4.02	0.46733|0.46733	Complement control module (2);Sushi/SCR/CCP (3);|.	.|.	.|.	.|.	.|.	T|T	0.52980|0.52980	0.1768|0.1768	L|L	0.58969|0.58969	1.84|1.84	0.09310|0.09310	N|N	1|1	P;P;P;P;P|.	0.49358|.	0.484;0.59;0.923;0.773;0.773|.	B;B;P;P;P|.	0.52189|.	0.327;0.334;0.692;0.536;0.536|.	T|T	0.44019|0.44019	-0.9355|-0.9355	9|5	0.23302|.	T|.	0.38|.	.|.	11.83|11.83	0.52290|0.52290	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	669;219;194;219;219|.	Q5SR44;E9PQN4;Q5SR42;P17927;E9PDY4|.	.;.;.;CR1_HUMAN;.|.	N|I	219|194	ENSP00000356019:D219N;ENSP00000356020:D219N;ENSP00000383744:D219N;ENSP00000436139:D219N;ENSP00000356016:D219N|.	ENSP00000356016:D219N|.	D|M	+|+	1|3	0|0	CR1|CR1	205763746|205763746	0.977000|0.977000	0.34250|0.34250	0.023000|0.023000	0.16930|0.16930	0.039000|0.039000	0.13416|0.13416	4.635000|4.635000	0.61332|0.61332	2.235000|2.235000	0.73313|0.73313	0.467000|0.467000	0.42956|0.42956	GAC|ATG	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.512	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	141	0.00	0	G	NM_000573		207697123	207697123	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	97	48.40	91	SNP	0.046	A
CRNKL1	51340	genome.wustl.edu	37	20	20018110	20018111	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:20018110_20018111delCA	ENST00000377340.2	-	14	2266_2267	c.2235_2236delTG	c.(2233-2238)tgtgaafs	p.CE745fs	CRNKL1_ENST00000377327.4_Frame_Shift_Del_p.CE733fs|CRNKL1_ENST00000536226.1_Frame_Shift_Del_p.CE584fs|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	745					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCCTTTTCTTCACAGTTTCGCA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2235_2236delTG	20.37:g.20018112_20018113delCA	ENSP00000366557:p.Cys745fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Frame_Shift_Del	DEL	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.C745fs	ENST00000377340.2	37	c.2236_2235	CCDS33446.1	20																																																																																			CRNKL1	-	NULL	ENSG00000101343		0.396	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	487	0.00	0	CA			20018110	20018111	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	frame_shift_del	365	10.90	45	DEL	1.000:1.000	-
CSAD	51380	genome.wustl.edu	37	12	53555122	53555122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:53555122delC	ENST00000444623.1	-	11	1021	c.754delG	c.(754-756)gccfs	p.A252fs	CSAD_ENST00000379846.1_Frame_Shift_Del_p.A105fs|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Frame_Shift_Del_p.A105fs|CSAD_ENST00000453446.2_Frame_Shift_Del_p.A252fs|CSAD_ENST00000267085.4_Frame_Shift_Del_p.A279fs	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	252					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GGGTCAAAGGCCCCTAGCACA	0.567																																					Ovarian(109;252 1546 16882 28524 44645)	dbGAP											0													96.0	97.0	97.0					12																	53555122		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.754delG	12.37:g.53555122delC	ENSP00000415485:p.Ala252fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.A279fs	ENST00000444623.1	37	c.835	CCDS58235.1	12																																																																																			CSAD	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000139631		0.567	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	60	0.00	0	C	NM_015989		53555122	53555122	-1	no_errors	ENST00000267085	ensembl	human	known	69_37n	frame_shift_del	40	18.00	9	DEL	1.000	-
YBX3	8531	genome.wustl.edu	37	12	10854894	10854894	+	Intron	SNP	C	C	T	rs371992319		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:10854894C>T	ENST00000228251.4	-	8	1079				YBX3_ENST00000546164.1_Intron|YBX3_ENST00000279550.7_Intron	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3						3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										ctgaggcaggcggatcacttg	0.463																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.879-161G>A	12.37:g.10854894C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBW6|Q14121|Q969N6|Q96B76	RNA	SNP	-	NULL	ENST00000228251.4	37	NULL	CCDS8630.1	12																																																																																			CSDA	-	-	ENSG00000060138		0.463	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSDA	HGNC	protein_coding	OTTHUMT00000399628.1	14	0.00	0	C	NM_003651		10854894	10854894	-1	no_errors	ENST00000366286	ensembl	human	known	69_37n	rna	6	60.00	9	SNP	0.078	T
CSF1	1435	genome.wustl.edu	37	1	110466430	110466431	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:110466430_110466431insC	ENST00000329608.6	+	6	1578_1579	c.1187_1188insC	c.(1186-1191)gaccccfs	p.DP396fs	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369802.3_Frame_Shift_Ins_p.DP396fs|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	396					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTCAGAGACCCCCCGGAGC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1193dupC	1.37:g.110466436_110466436dupC	ENSP00000327513:p.Asp396fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Frame_Shift_Ins	INS	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.E399fs	ENST00000329608.6	37	c.1187_1188	CCDS816.1	1																																																																																			CSF1	-	pfam_MCSF-1,pirsf_MCSF-1	ENSG00000184371		0.653	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	171	0.00	0	-	NM_000757		110466430	110466431	+1	no_errors	ENST00000329608	ensembl	human	known	69_37n	frame_shift_ins	79	28.18	31	INS	0.004:0.001	C
CSF2RB	1439	genome.wustl.edu	37	22	37334116	37334116	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:37334116C>A	ENST00000403662.3	+	14	2488	c.2266C>A	c.(2266-2268)Cca>Aca	p.P756T	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P762T|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P703T|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P762T			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	756					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCTGGAGCCCCAGGCCCTGT	0.647																																						dbGAP											0													38.0	41.0	40.0					22																	37334116		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2266C>A	22.37:g.37334116C>A	ENSP00000384053:p.Pro756Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P762T	ENST00000403662.3	37	c.2284	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712922	0.48517	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.94758	-2.99;-3.51;-3.51;-3.51	5.29	-2.28	0.06826	.	0.817723	0.10555	N	0.660939	D	0.92515	0.7623	L	0.55481	1.735	0.09310	N	1	D;D	0.64830	0.994;0.99	P;P	0.54544	0.755;0.573	D	0.84221	0.0461	10	0.22706	T	0.39	2.7441	3.5977	0.08012	0.2713:0.4128:0.0:0.3159	.	762;756	P32927-2;P32927	.;IL3RB_HUMAN	T	756;756;762;762;703	ENSP00000384053:P756T;ENSP00000262825:P762T;ENSP00000385271:P762T;ENSP00000440003:P703T	ENSP00000262825:P762T	P	+	1	0	CSF2RB	35664062	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.259000	0.18405	-0.572000	0.06006	0.555000	0.69702	CCA	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	65	0.00	0	C	NM_000395		37334116	37334116	+1	no_errors	ENST00000262825	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.000	A
CSPP1	79848	genome.wustl.edu	37	8	68007969	68007969	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:68007969T>C	ENST00000262210.5	+	6	981		c.e6+2		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATGACAGGTATTTACAACT	0.294																																						dbGAP											0													40.0	38.0	39.0					8																	68007969		1793	4012	5805	-	-	-	SO:0001630	splice_region_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.950+2T>C	8.37:g.68007969T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	-	e6+2	ENST00000262210.5	37	c.950+2	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021689	0.75275	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1956	0.73084	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68170523	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.888000	0.63164	2.323000	0.78572	0.528000	0.53228	.	CSPP1	-	-	ENSG00000104218		0.294	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	94	0.00	0	T	NM_024790	Intron	68007969	68007969	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	splice_site	99	18.18	22	SNP	1.000	C
CSPP1	79848	genome.wustl.edu	37	8	68070684	68070684	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:68070684T>C	ENST00000262210.5	+	18	2260	c.2229T>C	c.(2227-2229)atT>atC	p.I743I	CSPP1_ENST00000412460.1_Silent_p.I398I|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	778					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCTTTAGATTGAGGAAAAGA	0.338																																						dbGAP											0													47.0	45.0	46.0					8																	68070684		1811	4076	5887	-	-	-	SO:0001819	synonymous_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2229T>C	8.37:g.68070684T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Silent	SNP	NULL	p.I743	ENST00000262210.5	37	c.2229	CCDS43744.1	8																																																																																			CSPP1	-	NULL	ENSG00000104218		0.338	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	103	0.00	0	T	NM_024790		68070684	68070684	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	silent	71	26.80	26	SNP	1.000	C
CTNNA2	1496	genome.wustl.edu	37	2	80846327	80846327	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:80846327delG	ENST00000402739.4	+	17	2553	c.2548delG	c.(2548-2550)gggfs	p.G850fs	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000361291.4_Intron|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	850					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCTCCGATCGGGAGTGGAAG	0.453																																						dbGAP											0													20.0	17.0	18.0					2																	80846327		875	1990	2865	-	-	-	SO:0001589	frameshift_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2548delG	2.37:g.80846327delG	ENSP00000384638:p.Gly850fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Frame_Shift_Del	DEL	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S851fs	ENST00000402739.4	37	c.2548		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	33	0.00	0	G	NM_004389		80846327	80846327	+1	no_errors	ENST00000402739	ensembl	human	putative	69_37n	frame_shift_del	19	25.93	7	DEL	1.000	-
CXCL10	3627	genome.wustl.edu	37	4	76943950	76943950	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:76943950C>T	ENST00000306602.1	-	2	147	c.82G>A	c.(82-84)Gta>Ata	p.V28I	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	28					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTACAGCGTACAGTTCTAGAG	0.398																																						dbGAP											0													132.0	121.0	124.0					4																	76943950		1937	4143	6080	-	-	-	SO:0001583	missense	0			X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.82G>A	4.37:g.76943950C>T	ENSP00000305651:p.Val28Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96QJ5	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.V28I	ENST00000306602.1	37	c.82	CCDS43240.1	4	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.207593	0.01568	.	.	ENSG00000169245	ENST00000306602	T	0.04758	3.56	4.93	-6.92	0.01644	Chemokine interleukin-8-like domain (3);	1.307670	0.04859	N	0.443854	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43940	-0.9360	9	0.32370	T	0.25	-27.6841	1.33	0.02132	0.2189:0.3364:0.11:0.3347	.	28	P02778	CXL10_HUMAN	I	28	ENSP00000305651:V28I	ENSP00000305651:V28I	V	-	1	0	CXCL10	77162974	0.000000	0.05858	0.013000	0.15412	0.126000	0.20510	-1.671000	0.01954	-1.204000	0.02648	0.467000	0.42956	GTA	CXCL10	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000169245		0.398	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL10	HGNC	protein_coding	OTTHUMT00000362817.1	186	0.00	0	C			76943950	76943950	-1	no_errors	ENST00000306602	ensembl	human	known	69_37n	missense	200	16.60	40	SNP	0.004	T
CXorf22	170063	genome.wustl.edu	37	X	35989719	35989719	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:35989719T>C	ENST00000297866.5	+	12	2053	c.1987T>C	c.(1987-1989)Tat>Cat	p.Y663H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	663										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATGTATTCATATGATGATAC	0.378																																						dbGAP											0													15.0	12.0	13.0					X																	35989719		2198	4273	6471	-	-	-	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1987T>C	X.37:g.35989719T>C	ENSP00000297866:p.Tyr663His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.Y663H	ENST00000297866.5	37	c.1987	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287642	0.23478	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.72	-4.27	0.03744	.	1.322030	0.04881	N	0.447717	T	0.10121	0.0248	L	0.57536	1.79	0.09310	N	1	D	0.54964	0.969	B	0.41036	0.346	T	0.38542	-0.9656	10	0.15066	T	0.55	-0.3154	0.6345	0.00800	0.243:0.2702:0.2818:0.205	.	663	Q6ZTR5	CX022_HUMAN	H	663	ENSP00000297866:Y663H	ENSP00000297866:Y663H	Y	+	1	0	CXorf22	35899640	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.674000	0.01949	-0.579000	0.05952	-0.360000	0.07572	TAT	CXorf22	-	NULL	ENSG00000165164		0.378	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	63	0.00	0	T	NM_152632		35989719	35989719	+1	no_errors	ENST00000297866	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.000	C
CYP24A1	1591	genome.wustl.edu	37	20	52779169	52779169	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:52779169G>A	ENST00000216862.3	-	7	1384				CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1						osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGTGAAATGAATGAGATGA	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.990+86C>T	20.37:g.52779169G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15807|Q32ML3|Q5I2W7	RNA	SNP	-	NULL	ENST00000216862.3	37	NULL	CCDS33491.1	20																																																																																			CYP24A1	-	-	ENSG00000019186		0.443	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	46	0.00	0	G			52779169	52779169	-1	no_errors	ENST00000487593	ensembl	human	putative	69_37n	rna	35	40.68	24	SNP	0.000	A
CYP2A13	1553	genome.wustl.edu	37	19	41595975	41595975	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:41595975C>T	ENST00000330436.3	+	3	367	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	123					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CAACGGGGAGCGCGCCAAGCA	0.701																																						dbGAP											0													17.0	18.0	17.0					19																	41595975		2202	4294	6496	-	-	-	SO:0001583	missense	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.367C>T	19.37:g.41595975C>T	ENSP00000332679:p.Arg123Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R123C	ENST00000330436.3	37	c.367	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	12.02	1.811673	0.32053	.	.	ENSG00000197838	ENST00000330436	T	0.70869	-0.52	3.43	1.01	0.19927	.	0.000000	0.85682	U	0.000000	T	0.78323	0.4265	M	0.79343	2.45	0.32474	N	0.542448	D	0.69078	0.997	P	0.58210	0.835	T	0.82922	-0.0217	10	0.72032	D	0.01	.	11.0267	0.47748	0.3288:0.6712:0.0:0.0	.	123	Q16696	CP2AD_HUMAN	C	123	ENSP00000332679:R123C	ENSP00000332679:R123C	R	+	1	0	CYP2A13	46287815	0.000000	0.05858	0.594000	0.28785	0.003000	0.03518	-0.316000	0.08071	0.780000	0.33566	-0.681000	0.03757	CGC	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.701	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	26	0.00	0	C	NM_000766		41595975	41595975	+1	no_errors	ENST00000330436	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.616	T
CYP2C19	1557	genome.wustl.edu	37	10	96612637	96612637	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:96612637C>T	ENST00000371321.3	+	9	1521	c.1439C>T	c.(1438-1440)cCg>cTg	p.P480L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	480					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCTTCTGTCCCGCCCTTCTAT	0.463																																						dbGAP											0													159.0	140.0	146.0					10																	96612637		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1439C>T	10.37:g.96612637C>T	ENSP00000360372:p.Pro480Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P480L	ENST00000371321.3	37	c.1439	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	.	15.58	2.876244	0.51801	.	.	ENSG00000165841	ENST00000371321	T	0.71341	-0.56	3.1	2.17	0.27698	.	0.000000	0.64402	U	0.000002	T	0.81880	0.4916	M	0.90425	3.115	0.42449	D	0.992747	D	0.69078	0.997	P	0.59546	0.859	T	0.81826	-0.0754	10	0.72032	D	0.01	.	8.1802	0.31307	0.0:0.8699:0.0:0.1301	.	480	P33261	CP2CJ_HUMAN	L	480	ENSP00000360372:P480L	ENSP00000360372:P480L	P	+	2	0	CYP2C19	96602627	0.527000	0.26306	0.042000	0.18584	0.004000	0.04260	1.421000	0.34815	0.409000	0.25649	0.603000	0.83216	CCG	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000165841		0.463	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	368	0.00	0	C	NM_000769		96612637	96612637	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	missense	238	25.47	82	SNP	0.723	T
CYP2F1	1572	genome.wustl.edu	37	19	41627938	41627938	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:41627938T>C	ENST00000331105.2	+	6	794	c.722T>C	c.(721-723)cTg>cCg	p.L241P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	241					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TTCAAGTGCCTGAGAGACCTC	0.607																																						dbGAP											0													49.0	50.0	50.0					19																	41627938		2202	4297	6499	-	-	-	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.722T>C	19.37:g.41627938T>C	ENSP00000333534:p.Leu241Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L241P	ENST00000331105.2	37	c.722	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	N	13.62	2.290418	0.40494	.	.	ENSG00000197446	ENST00000331105	T	0.15952	2.38	3.21	3.21	0.36854	.	0.852017	0.10504	U	0.666946	T	0.46852	0.1414	M	0.89287	3.02	0.49582	D	0.999808	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.992;0.982	T	0.43589	-0.9382	10	0.72032	D	0.01	.	9.5872	0.39524	0.0:0.0:0.0:1.0	.	27;241;241	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	P	241	ENSP00000333534:L241P	ENSP00000333534:L241P	L	+	2	0	CYP2F1	46319778	0.256000	0.24012	0.299000	0.25016	0.072000	0.16883	3.544000	0.53640	1.340000	0.45581	0.325000	0.21440	CTG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197446		0.607	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	70	0.00	0	T			41627938	41627938	+1	no_errors	ENST00000331105	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	0.982	C
CYP4B1	1580	genome.wustl.edu	37	1	47280919	47280919	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:47280919C>T	ENST00000271153.4	+	8	1089	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	CYP4B1_ENST00000452782.2_Silent_p.D189D|CYP4B1_ENST00000371923.4_Silent_p.D352D|CYP4B1_ENST00000371919.4_Silent_p.D337D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	351					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCCTAGGGGACCAGGACTTCT	0.577																																						dbGAP											0													83.0	73.0	76.0					1																	47280919		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1053C>T	1.37:g.47280919C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.D352	ENST00000271153.4	37	c.1056	CCDS542.1	1																																																																																			CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000142973		0.577	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	58	0.00	0	C	NM_000779		47280919	47280919	+1	no_errors	ENST00000371923	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	0.191	T
DAAM1	23002	genome.wustl.edu	37	14	59835466	59835468	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:59835466_59835468delAGG	ENST00000395125.1	+	25	3149_3151	c.3126_3128delAGG	c.(3124-3129)tcagga>tca	p.G1043del	DAAM1_ENST00000360909.3_In_Frame_Del_p.G1033del|DAAM1_ENST00000351081.1_In_Frame_Del_p.G1043del|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1043	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTTACGCTCAGGAGAAGTGTTT	0.404																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3126_3128delAGG	14.37:g.59835466_59835468delAGG	ENSP00000378557:p.Gly1043del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.G1043in_frame_del	ENST00000395125.1	37	c.3126_3128	CCDS9737.1	14																																																																																			DAAM1	-	smart_Actin-bd_FH2/DRF_autoreg	ENSG00000100592		0.404	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	148	0.00	0	AGG	NM_014992		59835466	59835468	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	in_frame_del	53	41.30	38	DEL	0.708:1.000:1.000	-
BRINP1	1620	genome.wustl.edu	37	9	121930446	121930446	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:121930446C>T	ENST00000265922.3	-	8	1663	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	401					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TCCCCAAAACCCATTCTCATT	0.562																																						dbGAP											0													17.0	16.0	16.0					9																	121930446		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1202G>A	9.37:g.121930446C>T	ENSP00000265922:p.Gly401Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.G401E	ENST00000265922.3	37	c.1202	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957898	0.73902	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.58506	0.33	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72164	-0.4373	10	0.56958	D	0.05	-22.0811	19.8211	0.96595	0.0:1.0:0.0:0.0	.	401	O60477	DBC1_HUMAN	E	401	ENSP00000265922:G401E	ENSP00000265922:G401E	G	-	2	0	DBC1	120970267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.830000	0.69324	2.687000	0.91594	0.655000	0.94253	GGG	DBC1	-	NULL	ENSG00000078725		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	41	0.00	0	C	NM_014618		121930446	121930446	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	T
DBF4	10926	genome.wustl.edu	37	7	87525812	87525812	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:87525812A>G	ENST00000265728.1	+	7	1125	c.621A>G	c.(619-621)gcA>gcG	p.A207A		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	207					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTAGTGGTGCACAAAAAACAA	0.303																																						dbGAP											0													85.0	86.0	86.0					7																	87525812		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.621A>G	7.37:g.87525812A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.A207	ENST00000265728.1	37	c.621	CCDS5611.1	7																																																																																			DBF4	-	NULL	ENSG00000006634		0.303	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	32	0.00	0	A	NM_006716		87525812	87525812	+1	no_errors	ENST00000265728	ensembl	human	known	69_37n	silent	15	51.61	16	SNP	0.220	G
DCBLD1	285761	genome.wustl.edu	37	6	117840981	117840981	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:117840981C>A	ENST00000338728.5	+	3	448	c.328C>A	c.(328-330)Cca>Aca	p.P110T	DCBLD1_ENST00000296955.8_Missense_Mutation_p.P110T|DCBLD1_ENST00000368503.4_Missense_Mutation_p.P110T|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	110	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GTTTTTAGGTCCATACTGTGG	0.408																																						dbGAP											0													119.0	110.0	113.0					6																	117840981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.328C>A	6.37:g.117840981C>A	ENSP00000342422:p.Pro110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.P110T	ENST00000338728.5	37	c.328		6	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925906	0.52759	.	.	ENSG00000164465	ENST00000296955;ENST00000368503;ENST00000338728	T;T;T	0.17213	2.29;2.29;2.29	5.59	5.59	0.84812	CUB (5);	0.254977	0.39341	N	0.001395	T	0.13372	0.0324	N	0.25060	0.705	0.23906	N	0.996506	D;D	0.61080	0.968;0.989	P;P	0.60012	0.805;0.867	T	0.07083	-1.0791	10	0.44086	T	0.13	-6.816	13.3432	0.60557	0.158:0.842:0.0:0.0	.	110;110	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	T	110	ENSP00000296955:P110T;ENSP00000357489:P110T;ENSP00000342422:P110T	ENSP00000296955:P110T	P	+	1	0	DCBLD1	117947674	0.828000	0.29307	1.000000	0.80357	0.518000	0.34316	2.900000	0.48687	2.638000	0.89438	0.467000	0.42956	CCA	DCBLD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000164465		0.408	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2	63	0.00	0	C	NM_173674		117840981	117840981	+1	no_errors	ENST00000338728	ensembl	human	known	69_37n	missense	35	42.62	26	SNP	0.997	A
DCC	1630	genome.wustl.edu	37	18	50432613	50432613	+	Frame_Shift_Del	DEL	G	G	-	rs144555146		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:50432613delG	ENST00000442544.2	+	3	1228	c.612delG	c.(610-612)ccgfs	p.P204fs	DCC_ENST00000412726.1_Frame_Shift_Del_p.P52fs	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	204	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACTCCAACCGGGGGACATTG	0.507																																						dbGAP											0													80.0	77.0	78.0					18																	50432613		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.612delG	18.37:g.50432613delG	ENSP00000389140:p.Pro204fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D206fs	ENST00000442544.2	37	c.612	CCDS11952.1	18																																																																																			DCC	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000187323		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	100	0.00	0	G	NM_005215		50432613	50432613	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	frame_shift_del	89	10.78	11	DEL	0.913	-
DCST1	149095	genome.wustl.edu	37	1	155014270	155014270	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155014270C>A	ENST00000295542.1	+	8	925	c.829C>A	c.(829-831)Cca>Aca	p.P277T	DCST1_ENST00000368419.2_Missense_Mutation_p.P277T|DCST1_ENST00000392480.1_Missense_Mutation_p.P277T|DCST1_ENST00000423025.2_Missense_Mutation_p.P252T	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	277						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CATCTGGGTCCCACTCCTCAC	0.557																																						dbGAP											0													149.0	110.0	124.0					1																	155014270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.829C>A	1.37:g.155014270C>A	ENSP00000295542:p.Pro277Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.P277T	ENST00000295542.1	37	c.829	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732541	0.69189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.62744	0.2453	M	0.74881	2.28	0.47547	D	0.999453	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.66196	0.87;0.942;0.87	T	0.61603	-0.7029	10	0.10377	T	0.69	-19.0277	15.5786	0.76414	0.0:1.0:0.0:0.0	.	252;302;277	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	T	277;277;252;277	ENSP00000295542:P277T;ENSP00000376271:P277T;ENSP00000387369:P252T;ENSP00000357404:P277T	ENSP00000295542:P277T	P	+	1	0	DCST1	153280894	1.000000	0.71417	0.816000	0.32577	0.755000	0.42902	5.533000	0.67160	2.537000	0.85549	0.563000	0.77884	CCA	DCST1	-	NULL	ENSG00000163357		0.557	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	80	0.00	0	C	NM_152494		155014270	155014270	+1	no_errors	ENST00000295542	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	0.999	A
DCT	1638	genome.wustl.edu	37	13	95117943	95117943	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:95117943A>T	ENST00000377028.5	-	4	1220	c.807T>A	c.(805-807)gaT>gaA	p.D269E	AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D269E	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	269					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCAGAGTCGGATCGTCTGGTC	0.498																																						dbGAP											0													132.0	108.0	116.0					13																	95117943		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.807T>A	13.37:g.95117943A>T	ENSP00000366227:p.Asp269Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.D269E	ENST00000377028.5	37	c.807	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	A	22.5	4.291646	0.80914	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98849	-5.18;-5.18	5.95	-0.779	0.10973	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.090347	0.85682	D	0.000000	D	0.98896	0.9626	M	0.92317	3.295	0.49687	D	0.999818	D;D	0.65815	0.995;0.982	D;P	0.66497	0.944;0.833	D	0.98136	1.0433	10	0.56958	D	0.05	-18.0186	7.8135	0.29245	0.2853:0.1394:0.5753:0.0	.	269;269	Q09GT4;P40126	.;TYRP2_HUMAN	E	269	ENSP00000366227:D269E;ENSP00000392762:D269E	ENSP00000366227:D269E	D	-	3	2	DCT	93915944	0.592000	0.26832	0.990000	0.47175	0.596000	0.36781	-0.081000	0.11321	-0.031000	0.13781	-0.250000	0.11733	GAT	DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000080166		0.498	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	76	0.00	0	A			95117943	95117943	-1	no_errors	ENST00000446125	ensembl	human	known	69_37n	missense	86	12.24	12	SNP	1.000	T
DDX27	55661	genome.wustl.edu	37	20	47858504	47858504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:47858504delA	ENST00000371764.4	+	17	2074	c.2065delA	c.(2065-2067)aaafs	p.K691fs	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K691fs*4(3)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGATGCCAAAAAAAAGGG	0.488																																						dbGAP											3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											67.0	72.0	70.0					20																	47858504		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2065delA	20.37:g.47858504delA	ENSP00000360828:p.Lys691fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K691fs	ENST00000371764.4	37	c.2065	CCDS13416.1	20																																																																																			DDX27	-	NULL	ENSG00000124228		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	150	0.00	0	A			47858504	47858504	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	frame_shift_del	116	13.43	18	DEL	1.000	-
DDX42	11325	genome.wustl.edu	37	17	61890689	61890689	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:61890689G>A	ENST00000578681.1	+	16	2378	c.1777G>A	c.(1777-1779)Ggt>Agt	p.G593S	DDX42_ENST00000457800.2_Missense_Mutation_p.G593S|DDX42_ENST00000389924.2_Missense_Mutation_p.G593S|DDX42_ENST00000583590.1_Missense_Mutation_p.G593S|DDX42_ENST00000359353.5_Missense_Mutation_p.G474S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	593	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGGAAGAGCGGGTGAGAAAGG	0.498																																						dbGAP											0													124.0	100.0	108.0					17																	61890689		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1777G>A	17.37:g.61890689G>A	ENSP00000464050:p.Gly593Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G593S	ENST00000578681.1	37	c.1777	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.799504	0.96960	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.09817	2.94;2.94	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.091979	0.85682	D	0.000000	T	0.46405	0.1391	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58702	-0.7590	10	0.87932	D	0	-19.3665	18.809	0.92050	0.0:0.0:1.0:0.0	.	139;593	B3KV84;Q86XP3	.;DDX42_HUMAN	S	593	ENSP00000374574:G593S;ENSP00000390121:G593S	ENSP00000374574:G593S	G	+	1	0	DDX42	59244421	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	9.841000	0.99482	2.764000	0.94973	0.650000	0.86243	GGT	DDX42	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000198231		0.498	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	174	0.00	0	G	NM_007372		61890689	61890689	+1	no_errors	ENST00000389924	ensembl	human	known	69_37n	missense	89	39.46	58	SNP	1.000	A
DDX54	79039	genome.wustl.edu	37	12	113618756	113618758	+	In_Frame_Del	DEL	CTT	CTT	-	rs371388003|rs376401104		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:113618756_113618758delCTT	ENST00000306014.5	-	2	307_309	c.280_282delAAG	c.(280-282)aagdel	p.K94del	DDX54_ENST00000314045.7_In_Frame_Del_p.K94del|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	94					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGCCTCCAGACTTCTTCTTCTTC	0.611																																						dbGAP											0									,	7,229,4028		2,0,3,8,213,1906					,	4.8	0.8		dbSNP_134	88	21,21,8212		5,0,11,0,21,4090	no	codingComplex,codingComplex	DDX54	NM_024072.3,NM_001111322.1	,	7,0,14,8,234,5996	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5088,5.5347,2.2208	,	,		28,250,12240				-	-	-	SO:0001651	inframe_deletion	0			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.280_282delAAG	12.37:g.113618765_113618767delCTT	ENSP00000304072:p.Lys94del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YT8|Q9BRZ1	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K94in_frame_del	ENST00000306014.5	37	c.282_280	CCDS31907.1	12																																																																																			DDX54	-	NULL	ENSG00000123064		0.611	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	95	0.00	0	CTT	NM_024072		113618756	113618758	-1	no_errors	ENST00000314045	ensembl	human	known	69_37n	in_frame_del	53	10.17	6	DEL	0.990:1.000:1.000	-
DEF6	50619	genome.wustl.edu	37	6	35287432	35287432	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:35287432G>A	ENST00000316637.5	+	8	1352	c.1347G>A	c.(1345-1347)cgG>cgA	p.R449R	DEF6_ENST00000542066.1_Silent_p.R194R	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	449	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TGAAAGCTCGGCGAGATGAAG	0.597																																						dbGAP											0													66.0	70.0	68.0					6																	35287432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1347G>A	6.37:g.35287432G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VF4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R449	ENST00000316637.5	37	c.1347	CCDS4802.1	6																																																																																			DEF6	-	NULL	ENSG00000023892		0.597	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	49	0.00	0	G	NM_022047		35287432	35287432	+1	no_errors	ENST00000316637	ensembl	human	known	69_37n	silent	28	30.00	12	SNP	1.000	A
DEGS1	8560	genome.wustl.edu	37	1	224377462	224377462	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:224377462A>G	ENST00000323699.4	+	2	432	c.266A>G	c.(265-267)cAt>cGt	p.H89R	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.H89R	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	89					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CTGGCTATTCATGAGATTGCC	0.423																																						dbGAP											0													146.0	140.0	142.0					1																	224377462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.266A>G	1.37:g.224377462A>G	ENSP00000316476:p.His89Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.H89R	ENST00000323699.4	37	c.266	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157134	0.78114	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.74737	-0.87;-0.87;-0.87	5.72	5.72	0.89469	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.87578	0.982;0.998	D	0.94131	0.7388	10	0.72032	D	0.01	.	16.2968	0.82781	1.0:0.0:0.0:0.0	.	89;68	O15121;E7EMA0	DEGS1_HUMAN;.	R	68;89;89	ENSP00000400545:H68R;ENSP00000316476:H89R;ENSP00000375749:H89R	ENSP00000316476:H89R	H	+	2	0	DEGS1	222444085	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.339000	0.96797	2.309000	0.77851	0.448000	0.29417	CAT	DEGS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase	ENSG00000143753		0.423	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS1	HGNC	protein_coding	OTTHUMT00000091285.2	205	0.00	0	A			224377462	224377462	+1	no_errors	ENST00000323699	ensembl	human	known	69_37n	missense	122	52.16	133	SNP	1.000	G
DENND2A	27147	genome.wustl.edu	37	7	140268612	140268612	+	Splice_Site	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:140268612C>T	ENST00000275884.6	-	7	1959	c.1542G>A	c.(1540-1542)gtG>gtA	p.V514V	DENND2A_ENST00000496613.1_Splice_Site_p.V514V|DENND2A_ENST00000492720.1_Splice_Site_p.V514V|DENND2A_ENST00000537639.1_Splice_Site_p.V514V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	514					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTCATCTGTCACTAGAAGAA	0.438																																						dbGAP											0													120.0	115.0	117.0					7																	140268612		1978	4172	6150	-	-	-	SO:0001630	splice_region_variant	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1541-1G>A	7.37:g.140268612C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V514	ENST00000275884.6	37	c.1542	CCDS43659.1	7																																																																																			DENND2A	-	NULL	ENSG00000146966		0.438	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	88	0.00	0	C	NM_015689	Silent	140268612	140268612	-1	no_errors	ENST00000275884	ensembl	human	known	69_37n	silent	84	17.65	18	SNP	1.000	T
DENND5A	23258	genome.wustl.edu	37	11	9165779	9165779	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:9165779G>A	ENST00000328194.3	-	19	3489	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L	DENND5A_ENST00000527700.1_Silent_p.L400L|DENND5A_ENST00000530044.1_Silent_p.L1057L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1057	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCCGCTCCAGGCTTCCATCA	0.622																																						dbGAP											0													61.0	53.0	56.0					11																	9165779		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3169C>T	11.37:g.9165779G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.L1057	ENST00000328194.3	37	c.3169	CCDS31423.1	11																																																																																			DENND5A	-	superfamily_Lipase_LipOase,pfscan_LipOase_LH2	ENSG00000184014		0.622	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	78	0.00	0	G	NM_015213		9165779	9165779	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	silent	70	15.66	13	SNP	1.000	A
DET1	55070	genome.wustl.edu	37	15	89073859	89073859	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:89073859A>G	ENST00000268148.8	-	2	1223	c.1078T>C	c.(1078-1080)Tca>Cca	p.S360P	DET1_ENST00000444300.1_Missense_Mutation_p.S371P|DET1_ENST00000564406.1_Missense_Mutation_p.S371P|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	360						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CATACCTGTGATGGATCTGTG	0.453																																						dbGAP											0													75.0	76.0	76.0					15																	89073859		1940	4148	6088	-	-	-	SO:0001583	missense	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1078T>C	15.37:g.89073859A>G	ENSP00000268148:p.Ser360Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S371P	ENST00000268148.8	37	c.1111	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811434	0.70797	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.64997	1.995	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.56343	0.796;0.796	T	0.69548	-0.5116	9	0.72032	D	0.01	-14.1778	11.4722	0.50275	0.9307:0.0:0.0693:0.0	.	360;371	Q7L5Y6;B3KNN6	DET1_HUMAN;.	P	371;360	.	ENSP00000268148:S360P	S	-	1	0	DET1	86874863	1.000000	0.71417	0.168000	0.22838	0.987000	0.75469	8.627000	0.90974	1.160000	0.42584	0.533000	0.62120	TCA	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.453	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	66	0.00	0	A	NM_017996		89073859	89073859	-1	no_errors	ENST00000444300	ensembl	human	known	69_37n	missense	51	33.77	26	SNP	0.993	G
DHFRL1	200895	genome.wustl.edu	37	3	93780312	93780312	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:93780312A>G	ENST00000394221.2	-	2	493	c.44T>C	c.(43-45)aTg>aCg	p.M15T	DHFRL1_ENST00000314636.2_Missense_Mutation_p.M15T|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_5'UTR	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	15	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GCCGATGCCCATGTTTTGGGA	0.527																																						dbGAP											0													75.0	80.0	78.0					3																	93780312		2163	4261	6424	-	-	-	SO:0001583	missense	0			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.44T>C	3.37:g.93780312A>G	ENSP00000377768:p.Met15Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN30|Q6P4I9	Missense_Mutation	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.M15T	ENST00000394221.2	37	c.44	CCDS2926.1	3	.	.	.	.	.	.	.	.	.	.	A	10.93	1.489723	0.26686	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	T;T;T	0.71698	-0.59;-0.59;-0.59	0.967	0.967	0.19674	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.342659	0.28618	U	0.014709	T	0.71298	0.3323	M	0.78801	2.425	0.39376	D	0.96616	P	0.39737	0.685	P	0.49561	0.615	T	0.65278	-0.6207	10	0.22706	T	0.39	-5.8948	4.1927	0.10428	1.0:0.0:0.0:0.0	.	15	Q86XF0	DYRL1_HUMAN	T	15	ENSP00000319170:M15T;ENSP00000377768:M15T;ENSP00000420810:M15T	ENSP00000319170:M15T	M	-	2	0	DHFRL1	95263002	1.000000	0.71417	0.991000	0.47740	0.470000	0.32858	1.450000	0.35134	0.701000	0.31803	0.248000	0.18094	ATG	DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom	ENSG00000178700		0.527	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	109	0.00	0	A	NM_176815		93780312	93780312	-1	no_errors	ENST00000314636	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	G
DHX16	8449	genome.wustl.edu	37	6	30621048	30621048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30621048delT	ENST00000376442.3	-	20	3292	c.3097delA	c.(3097-3099)atafs	p.I1033fs	DHX16_ENST00000376437.5_Frame_Shift_Del_p.I552fs	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1033					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.I1033fs*>10(1)		kidney(2)|ovary(2)	4						GTTTTGCCTATTTTTTTGGGC	0.418																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											144.0	126.0	133.0					6																	30621048		1511	2709	4220	-	-	-	SO:0001589	frameshift_variant	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.3097delA	6.37:g.30621048delT	ENSP00000365625:p.Ile1033fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60322|Q5JP45|Q969X7|Q96QC1	Frame_Shift_Del	DEL	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1033fs	ENST00000376442.3	37	c.3097	CCDS4685.1	6																																																																																			DHX16	-	NULL	ENSG00000204560		0.418	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	108	0.00	0	T	NM_003587		30621048	30621048	-1	no_errors	ENST00000376442	ensembl	human	known	69_37n	frame_shift_del	68	19.05	16	DEL	0.987	-
DHX33	56919	genome.wustl.edu	37	17	5354241	5354241	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:5354241C>T	ENST00000225296.3	-	9	1610	c.1410G>A	c.(1408-1410)gcG>gcA	p.A470A	DHX33_ENST00000433302.3_Silent_p.A246A	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	470					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGGCAATGGCCGCCTGAATGT	0.428																																						dbGAP											0													124.0	119.0	120.0					17																	5354241		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1410G>A	17.37:g.5354241C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G380S	ENST00000225296.3	37	c.1138	CCDS11072.1	17																																																																																			DHX33	-	smart_Helicase-assoc_dom	ENSG00000005100		0.428	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	HGNC	protein_coding	OTTHUMT00000219826.2	185	0.00	0	C	NM_020162		5354241	5354241	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000572490	ensembl	human	novel	69_37n	missense	169	24.22	54	SNP	0.235	T
DHX8	1659	genome.wustl.edu	37	17	41601127	41601129	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:41601127_41601129delAGA	ENST00000262415.3	+	23	3647_3649	c.3575_3577delAGA	c.(3574-3579)cagaag>cag	p.K1194del	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1194					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTAAGCAAACAGAAGAAGCAACA	0.502																																					NSCLC(56;1548 1661 49258 49987)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3575_3577delAGA	17.37:g.41601130_41601132delAGA	ENSP00000262415:p.Lys1194del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1194in_frame_del	ENST00000262415.3	37	c.3575_3577	CCDS11464.1	17																																																																																			DHX8	-	NULL	ENSG00000067596		0.502	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	134	0.00	0	AGA			41601127	41601129	+1	no_errors	ENST00000262415	ensembl	human	known	69_37n	in_frame_del	76	28.04	30	DEL	1.000:1.000:1.000	-
DIP2A	23181	genome.wustl.edu	37	21	47974118	47974118	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:47974118C>T	ENST00000417564.2	+	26	3088	c.3067C>T	c.(3067-3069)Cac>Tac	p.H1023Y	DIP2A_ENST00000427143.2_Missense_Mutation_p.H959Y|DIP2A_ENST00000318711.7_Missense_Mutation_p.H1024Y|DIP2A_ENST00000400274.1_Missense_Mutation_p.H1019Y			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1023					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGTCCAGCTGCACAAAAGGGC	0.577																																						dbGAP											0													82.0	93.0	90.0					21																	47974118		2158	4261	6419	-	-	-	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3067C>T	21.37:g.47974118C>T	ENSP00000392066:p.His1023Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.H1024Y	ENST00000417564.2	37	c.3070	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006023	0.93287	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.61	5.61	0.85477	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.67700	2.07	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.738	D;D;P	0.91635	0.999;0.989;0.798	T	0.57694	-0.7767	10	0.29301	T	0.29	-22.5666	18.6292	0.91354	0.0:1.0:0.0:0.0	.	1024;959;1023	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	Y	1019;959;1024;1023	ENSP00000383133:H1019Y;ENSP00000400528:H959Y;ENSP00000323633:H1024Y;ENSP00000392066:H1023Y	ENSP00000323633:H1024Y	H	+	1	0	DIP2A	46798546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.637000	0.89404	0.650000	0.86243	CAC	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.577	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	48	0.00	0	C	NM_015151		47974118	47974118	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	1.000	T
DIS3	22894	genome.wustl.edu	37	13	73337683	73337684	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:73337683_73337684insT	ENST00000377767.4	-	16	2132_2133	c.2032_2033insA	c.(2032-2034)attfs	p.I678fs	DIS3_ENST00000545453.1_Frame_Shift_Ins_p.I516fs|DIS3_ENST00000377780.4_Frame_Shift_Ins_p.I648fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	678					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCCTCATGAATTTTTTTTGCA	0.361										Multiple Myeloma(4;0.011)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2033dupA	13.37:g.73337691_73337691dupT	ENSP00000366997:p.Ile678fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Frame_Shift_Ins	INS	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.I678fs	ENST00000377767.4	37	c.2033_2032	CCDS9447.1	13																																																																																			DIS3	-	pfam_RNase_II/R,smart_RNase_II/R	ENSG00000083520		0.361	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	164	0.00	0	-	NM_014953		73337683	73337684	-1	no_errors	ENST00000377767	ensembl	human	known	69_37n	frame_shift_ins	124	17.88	27	INS	1.000:1.000	T
DKC1	1736	genome.wustl.edu	37	X	154005088	154005089	+	In_Frame_Ins	INS	-	-	AAG			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:154005088_154005089insAAG	ENST00000369550.5	+	15	1701_1702	c.1491_1492insAAG	c.(1492-1494)aag>AAGaag	p.498_498K>KK	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	498	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGATACCACCaagaagaagaa	0.411									Congenital Dyskeratosis					34	0.00900662	0.0008	0.0072	3775	,	,		16089	0.0		0.004	False		,,,				2504	0.0245					dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1510_1512dupAAG	X.37:g.154005095_154005097dupAAG	ENSP00000358563:p.Lys505dup	Somatic		WXS	Illumina GAIIx	Phase_IV	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Ins	INS	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.501in_frame_insK	ENST00000369550.5	37	c.1491_1492	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.411	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	72	0.00	0	-	NM_001363		154005088	154005089	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	in_frame_ins	17	32.00	8	INS	0.114:0.284	AAG
DLAT	1737	genome.wustl.edu	37	11	111930667	111930667	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:111930667G>A	ENST00000280346.6	+	12	2214	c.1555G>A	c.(1555-1557)Gca>Aca	p.A519T	DLAT_ENST00000393051.1_Missense_Mutation_p.A414T|DLAT_ENST00000537636.1_Missense_Mutation_p.A290T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	519	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CAGTACTCCTGCAGGACTCAT	0.358																																						dbGAP											0													99.0	76.0	84.0					11																	111930667		2201	4297	6498	-	-	-	SO:0001583	missense	0			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1555G>A	11.37:g.111930667G>A	ENSP00000280346:p.Ala519Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16783|Q53EP3	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.A519T	ENST00000280346.6	37	c.1555	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	G	8.562	0.877924	0.17395	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.07	5.09	0.68999	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.334556	0.33670	N	0.004675	T	0.17023	0.0409	N	0.01009	-1.055	0.40928	D	0.984369	B;B;B	0.29766	0.0;0.256;0.0	B;B;B	0.28305	0.003;0.088;0.003	T	0.22417	-1.0217	10	0.11182	T	0.66	-0.7907	18.1398	0.89636	0.0:0.0:0.8719:0.1281	.	519;414;519	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	T	519;414;351;290	ENSP00000280346:A519T;ENSP00000376771:A414T;ENSP00000433432:A351T;ENSP00000442427:A290T	ENSP00000280346:A519T	A	+	1	0	DLAT	111435877	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.099000	0.64554	2.885000	0.99019	0.655000	0.94253	GCA	DLAT	-	pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L	ENSG00000150768		0.358	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	99	0.00	0	G	NM_001931		111930667	111930667	+1	no_errors	ENST00000280346	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.982	A
DLC1	10395	genome.wustl.edu	37	8	12957997	12957997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:12957997delG	ENST00000276297.4	-	9	2258	c.1849delC	c.(1849-1851)cggfs	p.R617fs	DLC1_ENST00000520226.1_Frame_Shift_Del_p.R106fs|DLC1_ENST00000512044.2_Frame_Shift_Del_p.R214fs|DLC1_ENST00000358919.2_Frame_Shift_Del_p.R180fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	617					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTTAGTCCGGGGGGTGGCA	0.652																																						dbGAP											0													47.0	53.0	51.0					8																	12957997		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1849delC	8.37:g.12957997delG	ENSP00000276297:p.Arg617fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Frame_Shift_Del	DEL	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.R617fs	ENST00000276297.4	37	c.1849	CCDS5989.1	8																																																																																			DLC1	-	NULL	ENSG00000164741		0.652	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	70	0.00	0	G	NM_182643, NM_006094		12957997	12957997	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	frame_shift_del	44	25.81	16	DEL	0.834	-
DLEC1	9940	genome.wustl.edu	37	3	38141824	38141824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:38141824delG	ENST00000308059.6	+	19	2793	c.2772delG	c.(2770-2772)ctgfs	p.L924fs	DLEC1_ENST00000452631.2_Frame_Shift_Del_p.L924fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.L924fs					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCACTCTCTGGGGGAGTGCA	0.592																																						dbGAP											0													100.0	102.0	102.0					3																	38141824		2007	4161	6168	-	-	-	SO:0001589	frameshift_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2772delG	3.37:g.38141824delG	ENSP00000308597:p.Leu924fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	superfamily_PapD-like	p.E926fs	ENST00000308059.6	37	c.2772	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.592	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	145	0.00	0	G	NM_007337		38141824	38141824	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	frame_shift_del	66	14.10	11	DEL	1.000	-
DMD	1756	genome.wustl.edu	37	X	31525513	31525513	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:31525513T>C	ENST00000357033.4	-	56	8481	c.8275A>G	c.(8275-8277)Agc>Ggc	p.S2759G	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.S2755G|DMD_ENST00000359836.1_Missense_Mutation_p.S299G|DMD_ENST00000541735.1_Missense_Mutation_p.S299G|DMD_ENST00000474231.1_Missense_Mutation_p.S299G|DMD_ENST00000378707.3_Missense_Mutation_p.S299G|DMD_ENST00000343523.2_Missense_Mutation_p.S299G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2759					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTTTTGGCTGTTTTCATCC	0.423																																						dbGAP											0													151.0	123.0	132.0					X																	31525513		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8275A>G	X.37:g.31525513T>C	ENSP00000354923:p.Ser2759Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.S2759G	ENST00000357033.4	37	c.8275	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.358|1.358	-0.589535|-0.589535	0.03799|0.03799	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.27557	.|1.66;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.68|5.68	4.81|4.81	0.61882|0.61882	.|.	.|0.187992	.|0.24537	.|N	.|0.037675	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.00057|0.00057	-2.36|-2.36	0.27881|0.27881	N|N	0.93967|0.93967	.|B;B;B;B;B;B;B;B;B;B;B	.|0.14438	.|0.01;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0;0.0;0.001;0.001;0.001;0.001;0.0;0.0	T|T	0.28396|0.28396	-1.0045|-1.0045	5|10	.|0.02654	.|T	.|1	.|.	13.2093|13.2093	0.59815|0.59815	0.0:0.9202:0.0:0.0798|0.0:0.9202:0.0:0.0798	.|.	.|2751;2759;2755;1418;1415;299;299;299;299;299;2636	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	R|G	487|2751;1418;1415;455;2755;2759;299;299;2759;2636;299;299;299	.|ENSP00000350765:S455G;ENSP00000367948:S2755G;ENSP00000354923:S2759G;ENSP00000352894:S299G;ENSP00000340057:S299G;ENSP00000367979:S299G;ENSP00000444119:S299G;ENSP00000417123:S299G	.|ENSP00000340057:S299G	Q|S	-|-	2|1	0|0	DMD|DMD	31435434|31435434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.813000|0.813000	0.45954|0.45954	5.082000|5.082000	0.64450|0.64450	1.128000|1.128000	0.42052|0.42052	-0.293000|-0.293000	0.09583|0.09583	CAG|AGC	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	68	0.00	0	T	NM_004006		31525513	31525513	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	1.000	C
DMD	1756	genome.wustl.edu	37	X	31697691	31697691	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:31697691T>C	ENST00000357033.4	-	53	7879	c.7673A>G	c.(7672-7674)cAg>cGg	p.Q2558R	DMD_ENST00000378677.2_Missense_Mutation_p.Q2554R|DMD_ENST00000359836.1_Missense_Mutation_p.Q98R|DMD_ENST00000541735.1_Missense_Mutation_p.Q98R|DMD_ENST00000474231.1_Missense_Mutation_p.Q98R|DMD_ENST00000378707.3_Missense_Mutation_p.Q98R|DMD_ENST00000343523.2_Missense_Mutation_p.Q98R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2558					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTGATTCTGAATTCTTTC	0.348																																						dbGAP											0													108.0	92.0	97.0					X																	31697691		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7673A>G	X.37:g.31697691T>C	ENSP00000354923:p.Gln2558Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q2558R	ENST00000357033.4	37	c.7673	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344048	0.61073	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.89	5.89	0.94794	.	0.000000	0.35495	U	0.003173	T	0.56031	0.1958	L	0.43757	1.38	0.53005	D	0.999966	B;B;D;D;D;B;B;B;P;P	0.59357	0.064;0.0;0.985;0.979;0.979;0.0;0.001;0.001;0.801;0.763	B;B;D;P;P;B;B;B;B;B	0.74023	0.159;0.003;0.982;0.871;0.871;0.002;0.008;0.013;0.339;0.229	T	0.52823	-0.8524	10	0.05351	T	0.99	.	15.187	0.73009	0.0:0.0:0.0:1.0	.	2550;2558;2554;1217;1214;98;98;98;98;98	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	R	2550;1217;1214;254;2554;2558;98;98;2558;2435;98;98;98	ENSP00000350765:Q254R;ENSP00000367948:Q2554R;ENSP00000354923:Q2558R;ENSP00000352894:Q98R;ENSP00000340057:Q98R;ENSP00000367979:Q98R;ENSP00000444119:Q98R;ENSP00000417123:Q98R	ENSP00000340057:Q98R	Q	-	2	0	DMD	31607612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.522000	0.73783	1.970000	0.57323	0.441000	0.28932	CAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	97	0.00	0	T	NM_004006		31697691	31697691	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	1.000	C
DMD	1756	genome.wustl.edu	37	X	32456489	32456489	+	Nonsense_Mutation	SNP	G	G	A	rs5030730		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:32456489G>A	ENST00000357033.4	-	29	4146	c.3940C>T	c.(3940-3942)Cga>Tga	p.R1314*	DMD_ENST00000378677.2_Nonsense_Mutation_p.R1310*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1314					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTGAATGTCGCATCAAATTT	0.368																																						dbGAP											0			GRCh37	CS002446	DMD	S	rs5030730						117.0	98.0	105.0					X																	32456489		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3940C>T	X.37:g.32456489G>A	ENSP00000354923:p.Arg1314*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R1314*	ENST00000357033.4	37	c.3940	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	45	11.737148	0.99597	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.82	5.82	0.92795	.	0.940538	0.08606	U	0.920690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6148	0.56569	0.0:0.0:0.7228:0.2772	rs5030730	.	.	.	X	1306;1310;1314;1314;1191	.	ENSP00000354923:R1314X	R	-	1	2	DMD	32366410	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.423000	0.52756	2.453000	0.82957	0.600000	0.82982	CGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	96	0.00	0	G	NM_004006		32456489	32456489	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	nonsense	79	21.00	21	SNP	0.998	A
DMD	1756	genome.wustl.edu	37	X	32482721	32482722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:32482721_32482722insT	ENST00000357033.4	-	24	3463_3464	c.3257_3258insA	c.(3256-3258)aagfs	p.K1086fs	DMD_ENST00000378677.2_Frame_Shift_Ins_p.K1082fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1086					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTCAGCTGCTTTTTTAGAAT	0.356																																						dbGAP											0			GRCh37	CD071314	DMD	D																																				-	-	-	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3258dupA	X.37:g.32482727_32482727dupT	ENSP00000354923:p.Lys1086fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q1087fs	ENST00000357033.4	37	c.3258_3257	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.356	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	340	0.00	0	-	NM_004006		32482721	32482722	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	frame_shift_ins	158	44.95	129	INS	0.990:1.000	T
DMD	1756	genome.wustl.edu	37	X	33229446	33229446	+	5'UTR	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:33229446C>G	ENST00000357033.4	-	0	190				DMD_ENST00000288447.4_Intron	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTGTATATCAAGGCAGCGA	0.328																																						dbGAP											0													46.0	41.0	43.0					X																	33229446		2202	4297	6499	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.-17G>C	X.37:g.33229446C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	RNA	SNP	-	NULL	ENST00000357033.4	37	NULL	CCDS14233.1	X																																																																																			DMD	-	-	ENSG00000198947		0.328	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	45	0.00	0	C	NM_004006		33229446	33229446	-1	no_errors	ENST00000463609	ensembl	human	known	69_37n	rna	30	14.29	5	SNP	0.994	G
DMXL2	23312	genome.wustl.edu	37	15	51787275	51787275	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:51787275T>C	ENST00000251076.5	-	19	5016	c.4729A>G	c.(4729-4731)Aca>Gca	p.T1577A	DMXL2_ENST00000543779.2_Missense_Mutation_p.T1577A|DMXL2_ENST00000449909.3_Missense_Mutation_p.T941A|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1577						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAAAGGCATGTGTGTAGGCGC	0.368																																						dbGAP											0													142.0	128.0	133.0					15																	51787275		2195	4293	6488	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4729A>G	15.37:g.51787275T>C	ENSP00000251076:p.Thr1577Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1577A	ENST00000251076.5	37	c.4729	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907928	0.92107	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.40756	1.02;1.02;1.02	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.45228	1.405	0.80722	D	1	D;D;D	0.71674	0.977;0.992;0.998	P;D;D	0.80764	0.779;0.987;0.994	T	0.59134	-0.7511	10	0.62326	D	0.03	.	15.7131	0.77646	0.0:0.0:0.0:1.0	.	1577;941;1577	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	A	1577;1577;941	ENSP00000251076:T1577A;ENSP00000441858:T1577A;ENSP00000400855:T941A	ENSP00000251076:T1577A	T	-	1	0	DMXL2	49574567	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.911000	0.69939	2.194000	0.70268	0.482000	0.46254	ACA	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	126	0.79	1	T	NM_015263		51787275	51787275	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	100	21.88	28	SNP	1.000	C
DNA2	1763	genome.wustl.edu	37	10	70231698	70231698	+	5'Flank	SNP	A	A	G	rs374991573		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:70231698A>G	ENST00000358410.3	-	0	0				DNA2_ENST00000399180.2_Missense_Mutation_p.F61S|DNA2_ENST00000399179.2_5'UTR	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TAGAAAAGGGAAAAAGGCGCG	0.627																																						dbGAP											0													29.0	34.0	32.0					10																	70231698		1859	4096	5955	-	-	-	SO:0001631	upstream_gene_variant	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231698A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2	p.F61S	ENST00000358410.3	37	c.182		10	.	.	.	.	.	.	.	.	.	.	A	7.738	0.700736	0.15172	.	.	ENSG00000138346	ENST00000399180	D	0.91740	-2.9	2.64	1.49	0.22878	.	.	.	.	.	D	0.86414	0.5927	.	.	.	0.23936	N	0.99641	.	.	.	.	.	.	T	0.75277	-0.3374	5	.	.	.	.	4.3909	0.11339	0.8369:0.0:0.1631:0.0	.	.	.	.	S	61	ENSP00000382133:F61S	.	F	-	2	0	DNA2	69901704	0.003000	0.15002	0.006000	0.13384	0.016000	0.09150	1.599000	0.36751	0.438000	0.26450	0.254000	0.18369	TTC	DNA2	-	NULL	ENSG00000138346		0.627	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	18	0.00	0	A			70231698	70231698	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.008	G
DNAH10	196385	genome.wustl.edu	37	12	124350591	124350591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:124350591delA	ENST00000409039.3	+	40	6809	c.6784delA	c.(6784-6786)aaafs	p.K2263fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2263	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCATACTGGAAAAAATGGGT	0.353																																						dbGAP											0													95.0	84.0	87.0					12																	124350591		1815	4079	5894	-	-	-	SO:0001589	frameshift_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6784delA	12.37:g.124350591delA	ENSP00000386770:p.Lys2263fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.K2263fs	ENST00000409039.3	37	c.6784	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.353	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	94	0.00	0	A			124350591	124350591	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	frame_shift_del	77	18.09	17	DEL	1.000	-
DNAH17	8632	genome.wustl.edu	37	17	76567673	76567673	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:76567673T>C	ENST00000585328.1	-	4	855	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	DNAH17_ENST00000389840.5_Splice_Site_p.Q244R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	244	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCCGTACCTGTTCATGGAT	0.662																																						dbGAP											0													45.0	50.0	48.0					17																	76567673		2039	4170	6209	-	-	-	SO:0001630	splice_region_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.732+1A>G	17.37:g.76567673T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.Q244R	ENST00000585328.1	37	c.731		17	.	.	.	.	.	.	.	.	.	.	T	19.96	3.924154	0.73213	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.68765	-0.35	5.13	5.13	0.70059	.	.	.	.	.	T	0.80752	0.4683	M	0.85630	2.765	0.41357	D	0.987406	.	.	.	.	.	.	D	0.84488	0.0609	7	0.87932	D	0	.	13.1577	0.59527	0.0:0.0:0.0:1.0	.	.	.	.	R	244	ENSP00000374490:Q244R	ENSP00000300671:Q244R	Q	-	2	0	DNAH17	74079268	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.674000	0.74487	1.922000	0.55676	0.459000	0.35465	CAG	DNAH17	-	pfam_Dynein_heavy_dom-1	ENSG00000187775		0.662	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	31	0.00	0	T	NM_173628	Missense_Mutation	76567673	76567673	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	1.000	C
DNAH3	55567	genome.wustl.edu	37	16	21033368	21033368	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:21033368G>A	ENST00000261383.3	-	40	5700	c.5701C>T	c.(5701-5703)Cat>Tat	p.H1901Y	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1901	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATTTACAATGAAGGCGACCA	0.453																																						dbGAP											0													126.0	102.0	111.0					16																	21033368		2201	4300	6501	-	-	-	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5701C>T	16.37:g.21033368G>A	ENSP00000261383:p.His1901Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.H1901Y	ENST00000261383.3	37	c.5701	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490934	0.26774	.	.	ENSG00000158486	ENST00000261383	T	0.25579	1.79	4.92	2.74	0.32292	.	0.861560	0.10291	N	0.692367	T	0.19005	0.0456	L	0.41415	1.275	0.35059	D	0.761385	B	0.25719	0.132	B	0.24701	0.055	T	0.21245	-1.0251	10	0.30854	T	0.27	.	4.548	0.12090	0.0802:0.2861:0.4866:0.1472	.	1901	Q8TD57	DYH3_HUMAN	Y	1901	ENSP00000261383:H1901Y	ENSP00000261383:H1901Y	H	-	1	0	DNAH3	20940869	0.642000	0.27260	0.828000	0.32881	0.974000	0.67602	1.034000	0.30204	1.006000	0.39211	0.462000	0.41574	CAT	DNAH3	-	NULL	ENSG00000158486		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	37	0.00	0	G	NM_017539		21033368	21033368	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	missense	56	17.39	12	SNP	0.013	A
DNAH5	1767	genome.wustl.edu	37	5	13766212	13766212	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:13766212C>T	ENST00000265104.4	-	59	10078	c.9974G>A	c.(9973-9975)tGc>tAc	p.C3325Y	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCAGTACGCAATCCATGAT	0.517									Kartagener syndrome																													dbGAP											0													115.0	112.0	113.0					5																	13766212		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9974G>A	5.37:g.13766212C>T	ENSP00000265104:p.Cys3325Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.C3325Y	ENST00000265104.4	37	c.9974	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759579	0.89932	.	.	ENSG00000039139	ENST00000265104	T	0.57107	0.42	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.089102	0.85682	D	0.000000	T	0.80449	0.4625	H	0.94658	3.565	0.80722	D	1	P	0.45212	0.853	P	0.60117	0.869	D	0.84859	0.0818	10	0.87932	D	0	.	19.7357	0.96202	0.0:1.0:0.0:0.0	.	3325	Q8TE73	DYH5_HUMAN	Y	3325	ENSP00000265104:C3325Y	ENSP00000265104:C3325Y	C	-	2	0	DNAH5	13819212	1.000000	0.71417	0.989000	0.46669	0.881000	0.50899	5.968000	0.70413	2.660000	0.90430	0.558000	0.71614	TGC	DNAH5	-	NULL	ENSG00000039139		0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	113	0.00	0	C	NM_001369		13766212	13766212	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	107	17.05	22	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196681536	196681536	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:196681536C>G	ENST00000312428.6	-	51	9677	c.9577G>C	c.(9577-9579)Gag>Cag	p.E3193Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3193					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTTTTTCTCTGTCTCTTCG	0.413																																						dbGAP											0													142.0	145.0	144.0					2																	196681536		1878	4108	5986	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9577G>C	2.37:g.196681536C>G	ENSP00000311273:p.Glu3193Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.E3193Q	ENST00000312428.6	37	c.9577	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373564	0.42105	.	.	ENSG00000118997	ENST00000312428	T	0.54279	0.58	5.26	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.75935	-0.3142	10	0.56958	D	0.05	.	14.9391	0.70980	0.1443:0.8557:0.0:0.0	.	3193	Q8WXX0	DYH7_HUMAN	Q	3193	ENSP00000311273:E3193Q	ENSP00000311273:E3193Q	E	-	1	0	DNAH7	196389781	1.000000	0.71417	0.656000	0.29637	0.274000	0.26718	5.936000	0.70153	1.422000	0.47177	0.591000	0.81541	GAG	DNAH7	-	NULL	ENSG00000118997		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	185	0.00	0	C	NM_018897		196681536	196681536	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	186	13.49	29	SNP	0.999	G
DNAH7	56171	genome.wustl.edu	37	2	196801374	196801374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:196801374delA	ENST00000312428.6	-	20	3321	c.3221delT	c.(3220-3222)ttgfs	p.L1074fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1074	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATTGGACAAAAAAAAGAA	0.318																																						dbGAP											0													73.0	72.0	72.0					2																	196801374		1799	4060	5859	-	-	-	SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3221delT	2.37:g.196801374delA	ENSP00000311273:p.Leu1074fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.L1074fs	ENST00000312428.6	37	c.3221	CCDS42794.1	2																																																																																			DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	153	0.00	0	A	NM_018897		196801374	196801374	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	frame_shift_del	139	36.04	80	DEL	1.000	-
DNAH8	1769	genome.wustl.edu	37	6	38816439	38816440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:38816439_38816440insA	ENST00000359357.3	+	35	4664_4665	c.4410_4411insA	c.(4411-4413)aaafs	p.K1471fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.K1471fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.K1688fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1471					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATAT	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4418dupA	6.37:g.38816447_38816447dupA	ENSP00000352312:p.Lys1471fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N1472fs	ENST00000359357.3	37	c.4410_4411		6																																																																																			DNAH8	-	pfam_Dynein_heavy_dom-2	ENSG00000124721		0.342	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	68	0.00	0	-	NM_001206927		38816439	38816440	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	frame_shift_ins	56	13.85	9	INS	1.000:1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11790216	11790216	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:11790216C>A	ENST00000262442.4	+	57	11114	c.11046C>A	c.(11044-11046)gcC>gcA	p.A3682A	DNAH9_ENST00000454412.2_Silent_p.A3682A|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3682					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCAGGGCCTCACTGCTCT	0.502																																						dbGAP											0													107.0	91.0	96.0					17																	11790216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11046C>A	17.37:g.11790216C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A3682	ENST00000262442.4	37	c.11046	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	121	0.00	0	C	NM_001372		11790216	11790216	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	115	21.23	31	SNP	0.999	A
DNAJA1	3301	genome.wustl.edu	37	9	33034319	33034319	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:33034319T>G	ENST00000330899.4	+	6	932	c.749T>G	c.(748-750)gTt>gGt	p.V250G	DNAJA1_ENST00000544625.1_Missense_Mutation_p.V93G|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	250					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GACCATGCTGTTTTTACTCGG	0.358																																						dbGAP											0													71.0	67.0	68.0					9																	33034319		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.749T>G	9.37:g.33034319T>G	ENSP00000369127:p.Val250Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ	p.V250G	ENST00000330899.4	37	c.749	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600894	0.46423	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.44881	0.91;0.91	4.8	4.8	0.61643	HSP40/DnaJ peptide-binding (1);	0.260679	0.37136	N	0.002230	T	0.49541	0.1563	M	0.89601	3.045	0.80722	D	1	P;B	0.37985	0.613;0.147	B;B	0.35182	0.197;0.128	T	0.57171	-0.7857	10	0.37606	T	0.19	-9.8586	12.5854	0.56414	0.0:0.0:0.0:1.0	.	250;250	Q86TL9;P31689	.;DNJA1_HUMAN	G	250;93;93	ENSP00000369127:V250G;ENSP00000439010:V93G	ENSP00000369127:V250G	V	+	2	0	DNAJA1	33024319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.588000	0.46137	1.921000	0.55644	0.533000	0.62120	GTT	DNAJA1	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000086061		0.358	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	60	0.00	0	T			33034319	33034319	+1	no_errors	ENST00000330899	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	G
DNAJC1	64215	genome.wustl.edu	37	10	22193536	22193536	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:22193536A>G	ENST00000376980.3	-	7	1025	c.735T>C	c.(733-735)gcT>gcC	p.A245A		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	245					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AAAACTGCCCAGCATCCTTAA	0.274																																						dbGAP											0													88.0	78.0	81.0					10																	22193536		2201	4289	6490	-	-	-	SO:0001819	synonymous_variant	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.735T>C	10.37:g.22193536A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.A245	ENST00000376980.3	37	c.735	CCDS7136.1	10																																																																																			DNAJC1	-	NULL	ENSG00000136770		0.274	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	65	0.00	0	A	NM_022365		22193536	22193536	-1	no_errors	ENST00000376980	ensembl	human	known	69_37n	silent	52	17.46	11	SNP	1.000	G
DNAJC11	55735	genome.wustl.edu	37	1	6697264	6697264	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:6697264G>T	ENST00000377577.5	-	14	1641	c.1518C>A	c.(1516-1518)gcC>gcA	p.A506A	DNAJC11_ENST00000542246.1_Silent_p.A468A|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Silent_p.A454A|DNAJC11_ENST00000377573.5_Silent_p.A416A|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	506						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GTACCTTGGAGGCCTCCGTGA	0.552																																						dbGAP											0													149.0	117.0	128.0					1																	6697264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1518C>A	1.37:g.6697264G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Silent	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.A506	ENST00000377577.5	37	c.1518	CCDS87.1	1																																																																																			DNAJC11	-	pfam_DnaJ-like_C11_C	ENSG00000007923		0.552	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	58	0.00	0	G	NM_018198		6697264	6697264	-1	no_errors	ENST00000377577	ensembl	human	known	69_37n	silent	31	18.42	7	SNP	0.998	T
DNHD1	144132	genome.wustl.edu	37	11	6540945	6540945	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:6540945T>C	ENST00000527990.2	+	6	1508	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	DNHD1_ENST00000254579.6_Missense_Mutation_p.L503P|DNHD1_ENST00000354685.3_Missense_Mutation_p.L503P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	503					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAAGCAACTGGAGCAGAAG	0.522																																						dbGAP											0													92.0	86.0	88.0					11																	6540945		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1508T>C	11.37:g.6540945T>C	ENSP00000436180:p.Leu503Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.L503P	ENST00000527990.2	37	c.1508	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232295	0.58777	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.31769	1.48;2.46;1.48	5.71	5.71	0.89125	.	0.000000	0.46442	D	0.000282	T	0.42787	0.1218	L	0.34521	1.04	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.20009	-1.0288	10	0.34782	T	0.22	.	12.3748	0.55273	0.0:0.0:0.0:1.0	.	503;503	Q96M86;Q96M86-4	DNHD1_HUMAN;.	P	503	ENSP00000254579:L503P;ENSP00000346716:L503P;ENSP00000436180:L503P	ENSP00000254579:L503P	L	+	2	0	DNHD1	6497521	1.000000	0.71417	0.999000	0.59377	0.449000	0.32228	3.954000	0.56708	2.177000	0.69029	0.460000	0.39030	CTG	DNHD1	-	NULL	ENSG00000179532		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	131	0.00	0	T	NM_144666		6540945	6540945	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	missense	115	22.00	33	SNP	0.982	C
DNM1P46	196968	genome.wustl.edu	37	15	100341242	100341242	+	RNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:100341242C>T	ENST00000341853.1	-	0	404					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGGCTTCGCACCAACCATGAG	0.572																																						dbGAP											0													70.0	65.0	67.0					15																	100341242		1542	3559	5101	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100341242C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.572	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	65	0.00	0	C	NR_003260		100341242	100341242	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	36	10.00	4	SNP	0.773	T
DNTT	1791	genome.wustl.edu	37	10	98064268	98064268	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:98064268G>A	ENST00000371174.2	+	1	116	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	DNTT_ENST00000419175.1_Missense_Mutation_p.R5Q|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	5					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GATCCACCACGAGCGTCCCAC	0.587																																						dbGAP											0													49.0	54.0	52.0					10																	98064268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.14G>A	10.37:g.98064268G>A	ENSP00000360216:p.Arg5Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R5Q	ENST00000371174.2	37	c.14	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	1.769	-0.484805	0.04352	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.11169	2.8;2.8	5.52	-11.0	0.00169	.	2.259380	0.01326	N	0.011104	T	0.02533	0.0077	N	0.00729	-1.24	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.32134	-0.9918	10	0.10377	T	0.69	-13.8392	11.2025	0.48749	0.2013:0.3526:0.4461:0.0	.	5;5	P04053-2;P04053	.;TDT_HUMAN	Q	5	ENSP00000401169:R5Q;ENSP00000360216:R5Q	ENSP00000360216:R5Q	R	+	2	0	DNTT	98054258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.570000	0.05895	-2.408000	0.00573	-3.434000	0.00037	CGA	DNTT	-	pirsf_DNA_nucleotidylexotransferase	ENSG00000107447		0.587	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	65	0.00	0	G	NM_004088		98064268	98064268	+1	no_errors	ENST00000371174	ensembl	human	known	69_37n	missense	44	27.42	17	SNP	0.000	A
DNTTIP2	30836	genome.wustl.edu	37	1	94335493	94335493	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:94335493G>T	ENST00000436063.2	-	7	2242	c.2185C>A	c.(2185-2187)Cga>Aga	p.R729R		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TACTTCCTTCGGTTGTATCTG	0.353																																						dbGAP											0													102.0	93.0	96.0					1																	94335493		1816	4075	5891	-	-	-	SO:0001819	synonymous_variant	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2185C>A	1.37:g.94335493G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	pfam_Fcf2	p.R729	ENST00000436063.2	37	c.2185	CCDS44174.1	1																																																																																			DNTTIP2	-	pfam_Fcf2	ENSG00000067334		0.353	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	77	0.00	0	G	NM_014597		94335493	94335493	-1	no_errors	ENST00000436063	ensembl	human	known	69_37n	silent	47	25.40	16	SNP	1.000	T
DOCK11	139818	genome.wustl.edu	37	X	117700116	117700116	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:117700116delA	ENST00000276202.7	+	8	905	c.842delA	c.(841-843)gaafs	p.E281fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.E281fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	281					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTAGTTCAAGAAAAAAAGGAG	0.373																																						dbGAP											0													87.0	88.0	88.0					X																	117700116		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.842delA	X.37:g.117700116delA	ENSP00000276202:p.Glu281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K283fs	ENST00000276202.7	37	c.842	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.373	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	305	0.00	0	A	NM_144658		117700116	117700116	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	frame_shift_del	157	16.15	31	DEL	1.000	-
DXO	1797	genome.wustl.edu	37	6	31938177	31938177	+	Silent	SNP	G	G	A	rs199944121		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:31938177G>A	ENST00000375349.3	-	5	1302	c.891C>T	c.(889-891)gaC>gaT	p.D297D	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Silent_p.D297D|STK19_ENST00000375333.2_5'Flank|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000375356.3_Silent_p.D297D			O77932	DXO_HUMAN	decapping exoribonuclease	297					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										AGACAAAACCGTCTGGGTTAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													102.0	99.0	100.0					6																	31938177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.891C>T	6.37:g.31938177G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Silent	SNP	pfam_RAI1	p.D297	ENST00000375349.3	37	c.891	CCDS4732.1	6																																																																																			DOM3Z	-	pfam_RAI1	ENSG00000204348		0.512	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DOM3Z	HGNC	protein_coding	OTTHUMT00000076592.3	82	0.00	0	G			31938177	31938177	-1	no_errors	ENST00000337523	ensembl	human	known	69_37n	silent	49	10.91	6	SNP	0.866	A
DPH2	1802	genome.wustl.edu	37	1	44436768	44436768	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:44436768T>C	ENST00000255108.3	+	3	563	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L	DPH2_ENST00000396758.2_Silent_p.L131L|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	131				RQRSVALELCVKAFEAQNPDPKAPVVLLS -> SSTFCGLG TLCQDLWGPKPRPQSACGAAG (in Ref. 1; AAC18086). {ECO:0000305}.	peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TTCTGTGGCCTTGGAGCTCTG	0.622																																						dbGAP											0													36.0	35.0	35.0					1																	44436768		2199	4292	6491	-	-	-	SO:0001819	synonymous_variant	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.391T>C	1.37:g.44436768T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.L131	ENST00000255108.3	37	c.391	CCDS504.1	1																																																																																			DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	ENSG00000132768		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	17	0.00	0	T	NM_001384		44436768	44436768	+1	no_errors	ENST00000255108	ensembl	human	known	69_37n	silent	3	70.00	7	SNP	0.990	C
DPP10	57628	genome.wustl.edu	37	2	116599892	116599892	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:116599892C>G	ENST00000410059.1	+	26	2842	c.2362C>G	c.(2362-2364)Cta>Gta	p.L788V	DPP10_ENST00000409163.1_Missense_Mutation_p.L738V|DPP10_ENST00000310323.8_Missense_Mutation_p.L781V|DPP10_ENST00000393147.2_Missense_Mutation_p.L792V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	788						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATATCTGTGCTACCACAGGA	0.378																																						dbGAP											0													94.0	91.0	92.0					2																	116599892		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2362C>G	2.37:g.116599892C>G	ENSP00000386565:p.Leu788Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L792V	ENST00000410059.1	37	c.2374	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.729644	0.00687	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	6.03	1.78	0.24846	.	0.201072	0.34133	N	0.004226	T	0.06280	0.0162	N	0.10874	0.06	0.35819	D	0.824425	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.12837	0.008;0.007;0.003;0.003	T	0.30504	-0.9976	10	0.20046	T	0.44	-6.4907	1.4425	0.02357	0.1351:0.1815:0.1405:0.5429	.	781;792;784;788	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	788;738;792;781	ENSP00000386565:L788V;ENSP00000387038:L738V;ENSP00000376855:L792V;ENSP00000309066:L781V	ENSP00000309066:L781V	L	+	1	2	DPP10	116316362	0.998000	0.40836	0.549000	0.28204	0.961000	0.63080	1.038000	0.30254	0.057000	0.16193	-0.238000	0.12139	CTA	DPP10	-	NULL	ENSG00000175497		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	103	0.00	0	C	NM_020868		116599892	116599892	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	104	15.45	19	SNP	0.594	G
STEAP2-AS1	100874100	genome.wustl.edu	37	7	89749079	89749079	+	RNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:89749079C>T	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		CCCTTCTTCTCGGCCCCTTCC	0.602																																						dbGAP											0																																										-	-	-			0					7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89749079C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000478318.2	37	NULL		7																																																																																			DPY19L2P4	-	-	ENSG00000235436		0.602	STEAP2-AS1-002	KNOWN	basic	antisense	DPY19L2P4	HGNC	processed_transcript	OTTHUMT00000350909.2	37	0.00	0	C			89749079	89749079	+1	no_errors	ENST00000497063	ensembl	human	known	69_37n	rna	31	16.22	6	SNP	0.299	T
STEAP2-AS1	100874100	genome.wustl.edu	37	7	89753415	89753415	+	RNA	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:89753415T>A	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		TTTGTGAAAATTATCGTCATT	0.289																																						dbGAP											0																																										-	-	-			0					7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89753415T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000478318.2	37	NULL		7																																																																																			DPY19L2P4	-	-	ENSG00000235436		0.289	STEAP2-AS1-002	KNOWN	basic	antisense	DPY19L2P4	HGNC	processed_transcript	OTTHUMT00000350909.2	119	0.00	0	T			89753415	89753415	+1	no_errors	ENST00000497063	ensembl	human	known	69_37n	rna	59	36.56	34	SNP	0.996	A
DTX3L	151636	genome.wustl.edu	37	3	122284779	122284779	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:122284779A>G	ENST00000296161.4	+	2	450	c.261A>G	c.(259-261)gtA>gtG	p.V87V	PARP9_ENST00000462315.1_5'Flank|DTX3L_ENST00000383661.3_Silent_p.V87V|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000360356.2_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	87					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TTTTCCTGGTACCCACTGAAA	0.408																																						dbGAP											0													106.0	101.0	103.0					3																	122284779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.261A>G	3.37:g.122284779A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.V87	ENST00000296161.4	37	c.261	CCDS3015.1	3																																																																																			DTX3L	-	NULL	ENSG00000163840		0.408	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	76	0.00	0	A	NM_138287		122284779	122284779	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	0.365	G
DUOX1	53905	genome.wustl.edu	37	15	45457005	45457005	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:45457005G>C	ENST00000321429.4	+	35	4969	c.4562G>C	c.(4561-4563)gGc>gCc	p.G1521A	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.G1521A|DUOX1_ENST00000561166.1_Missense_Mutation_p.G1167A	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGC	0.542																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)											191.0	181.0	185.0					15																	45457005		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4562G>C	15.37:g.45457005G>C	ENSP00000317997:p.Gly1521Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.G1521A	ENST00000321429.4	37	c.4562	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221997	0.79464	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.96745	-4.11;-4.11	4.47	3.55	0.40652	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98567	1.0644	10	0.87932	D	0	-15.5065	10.5811	0.45257	0.0954:0.0:0.9046:0.0	.	1521	Q9NRD9	DUOX1_HUMAN	A	1521	ENSP00000317997:G1521A;ENSP00000373689:G1521A	ENSP00000317997:G1521A	G	+	2	0	DUOX1	43244297	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.769000	0.85360	1.080000	0.41073	0.561000	0.74099	GGC	DUOX1	-	pfam_Fe_red_NAD-bd_6	ENSG00000137857		0.542	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	324	0.00	0	G	NM_017434		45457005	45457005	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	95	25.20	32	SNP	1.000	C
DUOX1	53905	genome.wustl.edu	37	15	45457064	45457064	+	Silent	SNP	C	C	A	rs554036237		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:45457064C>A	ENST00000321429.4	+	35	5028	c.4621C>A	c.(4621-4623)Cgg>Agg	p.R1541R	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.R1541R|DUOX1_ENST00000561166.1_Silent_p.R1187R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1541					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCAGGACCGGACTCACTT	0.587																																						dbGAP											0													161.0	158.0	159.0					15																	45457064		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4621C>A	15.37:g.45457064C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.R1541	ENST00000321429.4	37	c.4621	CCDS32221.1	15																																																																																			DUOX1	-	NULL	ENSG00000137857		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	249	0.00	0	C	NM_017434		45457064	45457064	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	silent	75	23.47	23	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102505055	102505055	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:102505055C>A	ENST00000360184.4	+	59	11240	c.11076C>A	c.(11074-11076)ctC>ctA	p.L3692L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3692	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCAGATCTCTGTTCCCGGG	0.453																																						dbGAP											0													128.0	125.0	126.0					14																	102505055		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11076C>A	14.37:g.102505055C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	NULL	p.L119M	ENST00000360184.4	37	c.355	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054778	0.19907	.	.	ENSG00000197102	ENST00000553423	T	0.25579	1.79	5.83	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.41236	0.1150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15435	-1.0437	6	.	.	.	.	16.3584	0.83244	0.0:0.7371:0.2629:0.0	.	.	.	.	M	119	ENSP00000450674:L119M	.	L	+	1	2	DYNC1H1	101574808	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.781000	0.38644	0.775000	0.33450	0.655000	0.94253	CTG	DYNC1H1	-	NULL	ENSG00000197102		0.453	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	154	0.00	0	C	NM_001376		102505055	102505055	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553423	ensembl	human	novel	69_37n	missense	92	14.81	16	SNP	1.000	A
DYRK2	8445	genome.wustl.edu	37	12	68052207	68052207	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:68052207T>C	ENST00000344096.3	+	3	1933	c.1520T>C	c.(1519-1521)cTt>cCt	p.L507P	DYRK2_ENST00000393555.3_Missense_Mutation_p.L434P|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GATGATCCCCTTTTCCTTGAC	0.607																																						dbGAP											0													57.0	62.0	60.0					12																	68052207		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1520T>C	12.37:g.68052207T>C	ENSP00000342105:p.Leu507Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V9|Q9BRB5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L507P	ENST00000344096.3	37	c.1520	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531874	0.45073	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.65364	-0.15;-0.15	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	N	0.25094	0.71	0.80722	D	1	D	0.59357	0.985	D	0.63957	0.92	T	0.61907	-0.6966	9	.	.	.	.	11.7639	0.51920	0.1317:0.0:0.0:0.8683	.	507	Q92630	DYRK2_HUMAN	P	507;434	ENSP00000342105:L507P;ENSP00000377186:L434P	.	L	+	2	0	DYRK2	66338474	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.160000	0.58164	2.259000	0.74868	0.374000	0.22700	CTT	DYRK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000127334		0.607	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	HGNC	protein_coding	OTTHUMT00000402218.1	199	0.00	0	T			68052207	68052207	+1	no_errors	ENST00000344096	ensembl	human	known	69_37n	missense	159	11.17	20	SNP	1.000	C
DZANK1	55184	genome.wustl.edu	37	20	18429670	18429670	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:18429670C>T	ENST00000358866.6	-	6	609	c.587G>A	c.(586-588)aGc>aAc	p.S196N	DZANK1_ENST00000262547.5_Missense_Mutation_p.S196N|DZANK1_ENST00000329494.5_Missense_Mutation_p.S198N|DZANK1_ENST00000357236.4_Missense_Mutation_p.S82N|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	196							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TATCTCCGTGCTTGTCAAACA	0.368																																						dbGAP											0													142.0	132.0	135.0					20																	18429670		1859	4101	5960	-	-	-	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.587G>A	20.37:g.18429670C>T	ENSP00000351734:p.Ser196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.S196N	ENST00000358866.6	37	c.587	CCDS46582.1	20	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575366	0.45902	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.0	4.04	0.47022	.	0.423688	0.31721	N	0.007168	T	0.22666	0.0547	L	0.41824	1.3	0.40063	D	0.975928	B;P;B	0.37061	0.219;0.58;0.426	B;B;B	0.34093	0.066;0.14;0.175	T	0.04509	-1.0946	10	0.25751	T	0.34	-23.4227	11.962	0.53013	0.0:0.9089:0.0:0.0911	.	215;82;196	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	N	23;196;198;22;22;82	ENSP00000366857:S23N;ENSP00000262547:S196N;ENSP00000328866:S198N;ENSP00000349774:S82N	ENSP00000262547:S196N	S	-	2	0	C20orf12	18377670	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.584000	0.46102	2.463000	0.83235	0.650000	0.86243	AGC	DZANK1	-	NULL	ENSG00000089091		0.368	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	226	0.00	0	C	NM_001099407		18429670	18429670	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	missense	222	17.16	46	SNP	1.000	T
EDEM2	55741	genome.wustl.edu	37	20	33725697	33725697	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:33725697C>T	ENST00000374492.3	-	5	581	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	EDEM2_ENST00000374491.3_Missense_Mutation_p.R122Q|EDEM2_ENST00000540582.1_Missense_Mutation_p.R118Q|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_Intron	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	159					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGGAGTTTTCGGGCCGCCTC	0.577																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	dbGAP											0													64.0	71.0	69.0					20																	33725697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.476G>A	20.37:g.33725697C>T	ENSP00000363616:p.Arg159Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R159Q	ENST00000374492.3	37	c.476	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893278	0.52121	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.41758	0.99;0.99;0.99	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.16307	0.4	0.80722	D	1	P;P;P	0.42456	0.517;0.74;0.78	B;B;B	0.32393	0.079;0.089;0.145	T	0.05533	-1.0879	10	0.19590	T	0.45	-7.5933	19.5944	0.95530	0.0:1.0:0.0:0.0	.	118;122;159	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	Q	122;159;118	ENSP00000363615:R122Q;ENSP00000363616:R159Q;ENSP00000441548:R118Q	ENSP00000363615:R122Q	R	-	2	0	EDEM2	33189358	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.851000	0.69481	2.868000	0.98415	0.555000	0.69702	CGA	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	99	0.00	0	C	NM_018217		33725697	33725697	-1	no_errors	ENST00000374492	ensembl	human	known	69_37n	missense	98	16.95	20	SNP	1.000	T
EDN1	1906	genome.wustl.edu	37	6	12294561	12294561	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:12294561delA	ENST00000379375.5	+	4	724	c.457delA	c.(457-459)aaafs	p.K154fs		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	154					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CAAGCTTGGGAAAAAGTGTAT	0.363																																						dbGAP											0													94.0	94.0	94.0					6																	12294561		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.457delA	6.37:g.12294561delA	ENSP00000368683:p.Lys154fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA1	Frame_Shift_Del	DEL	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.K154fs	ENST00000379375.5	37	c.457	CCDS4522.1	6																																																																																			EDN1	-	NULL	ENSG00000078401		0.363	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	281	0.00	0	A	NM_001955		12294561	12294561	+1	no_errors	ENST00000379375	ensembl	human	known	69_37n	frame_shift_del	261	17.65	57	DEL	0.009	-
EFCAB11	90141	genome.wustl.edu	37	14	90397926	90397926	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:90397926C>A	ENST00000316738.7	-	5	397	c.369G>T	c.(367-369)gtG>gtT	p.V123V	EFCAB11_ENST00000550103.2_5'UTR|EFCAB11_ENST00000267544.9_Silent_p.V60V|EFCAB11_ENST00000538485.2_Silent_p.V123V|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556609.1_Silent_p.V75V|EFCAB11_ENST00000555872.1_Silent_p.V99V|EFCAB11_ENST00000556005.1_Silent_p.V99V	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	123	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						ATTTGGGAGCCACCTGCCTAA	0.338																																						dbGAP											0													137.0	135.0	135.0					14																	90397926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.369G>T	14.37:g.90397926C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.V123	ENST00000316738.7	37	c.369	CCDS9887.1	14																																																																																			EFCAB11	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000140025		0.338	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	HGNC	protein_coding	OTTHUMT00000309022.2	178	0.00	0	C	NM_145231		90397926	90397926	-1	no_errors	ENST00000316738	ensembl	human	known	69_37n	silent	102	15.00	18	SNP	1.000	A
EFCAB12	90288	genome.wustl.edu	37	3	129140295	129140295	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:129140295G>T	ENST00000505956.1	-	2	563	c.401C>A	c.(400-402)cCt>cAt	p.P134H	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P134H	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	134							calcium ion binding (GO:0005509)										GGCCTCTGAAGGCGTGATGCT	0.582																																						dbGAP											0													108.0	108.0	108.0					3																	129140295		2114	4232	6346	-	-	-	SO:0001583	missense	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.401C>A	3.37:g.129140295G>T	ENSP00000420854:p.Pro134His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YX4	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.P134H	ENST00000505956.1	37	c.401	CCDS54638.1	3	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791664	0.16258	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.15256	2.44;2.44	3.97	2.19	0.27852	.	0.782790	0.11061	N	0.603940	T	0.24509	0.0594	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.11179	-1.0598	10	0.52906	T	0.07	-0.7624	6.356	0.21402	0.2238:0.0:0.7762:0.0	.	134	Q6NXP0	CC025_HUMAN	H	134	ENSP00000420854:P134H;ENSP00000324241:P134H	ENSP00000324241:P134H	P	-	2	0	C3orf25	130622985	0.083000	0.21467	0.001000	0.08648	0.015000	0.08874	1.490000	0.35573	0.642000	0.30620	-0.136000	0.14681	CCT	EFCAB12	-	NULL	ENSG00000172771		0.582	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	128	0.00	0	G	NM_207307		129140295	129140295	-1	no_errors	ENST00000326085	ensembl	human	known	69_37n	missense	69	43.55	54	SNP	0.001	T
EFNA3	1944	genome.wustl.edu	37	1	155059036	155059036	+	3'UTR	DEL	G	G	-	rs538270136		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155059036delG	ENST00000368408.3	+	0	804				EFNA3_ENST00000505139.1_3'UTR|EFNA3_ENST00000418360.2_3'UTR|EFNA3_ENST00000556931.1_3'UTR|EFNA3_ENST00000498667.1_3'UTR	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCTCCCCTGGGGGGGGAGA	0.652											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0										1745,11,111,2395		332,1,60,1020,1,0,8,6,39,664	43.0	49.0	47.0			-3.2	0.0	1	dbSNP_132	49	694,30,50,7476		22,0,7,643,0,0,30,4,35,3384	no	utr-3	EFNA3	NM_004952.4		354,1,67,1663,1,0,38,10,74,4048	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.3818,43.8057,21.1077			155059036	2439,41,161,9871	2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.*17G>-	1.37:g.155059036delG		Somatic	220	WXS	Illumina GAIIx	Phase_IV	B7ZAD3|D3DV85|Q0VGC9|Q5SR70	RNA	DEL	-	NULL	ENST00000368408.3	37	NULL	CCDS1090.1	1																																																																																			EFNA3	-	-	ENSG00000143590		0.652	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFNA3	HGNC	protein_coding	OTTHUMT00000085429.1	35	0.00	0	G	NM_004952		155059036	155059036	+1	no_errors	ENST00000470294	ensembl	human	known	69_37n	rna	16	20.00	4	DEL	0.000	-
EGFR	1956	genome.wustl.edu	37	7	55220348	55220348	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:55220348C>T	ENST00000275493.2	+	6	915	c.738C>T	c.(736-738)agC>agT	p.S246S	EGFR_ENST00000344576.2_Silent_p.S246S|EGFR_ENST00000454757.2_Silent_p.S193S|EGFR_ENST00000420316.2_Silent_p.S246S|EGFR_ENST00000342916.3_Silent_p.S246S|EGFR_ENST00000455089.1_Silent_p.S201S|EGFR_ENST00000442591.1_Silent_p.S246S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	246			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCGGGAGAGCGACTGCCTGG	0.677		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													40.0	45.0	43.0					7																	55220348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.738C>T	7.37:g.55220348C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S246	ENST00000275493.2	37	c.738	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000146648		0.677	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	58	0.00	0	C	NM_005228		55220348	55220348	+1	no_errors	ENST00000275493	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	0.745	T
EHD1	10938	genome.wustl.edu	37	11	64621973	64621973	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:64621973G>T	ENST00000320631.3	-	5	1691	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.T479T	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	479	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCCCTAGCACGGTGTTGGGGA	0.602																																						dbGAP											0													180.0	149.0	159.0					11																	64621973		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1437C>A	11.37:g.64621973G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.T479	ENST00000320631.3	37	c.1437	CCDS8084.1	11																																																																																			EHD1	-	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	ENSG00000110047		0.602	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	43	0.00	0	G	NM_006795		64621973	64621973	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	0.241	T
EHD4	30844	genome.wustl.edu	37	15	42211464	42211464	+	Frame_Shift_Del	DEL	G	G	-	rs376774893		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:42211464delG	ENST00000220325.4	-	4	951	c.868delC	c.(868-870)cagfs	p.Q290fs	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	290					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCTGCCTTCTGGGGGAGGCTC	0.637																																						dbGAP											0													50.0	48.0	49.0					15																	42211464		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.868delC	15.37:g.42211464delG	ENSP00000220325:p.Gln290fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAR1|Q9NZN2	Frame_Shift_Del	DEL	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.Q290fs	ENST00000220325.4	37	c.868	CCDS10081.1	15																																																																																			EHD4	-	NULL	ENSG00000103966		0.637	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	65	0.00	0	G	NM_139265		42211464	42211464	-1	no_errors	ENST00000220325	ensembl	human	known	69_37n	frame_shift_del	31	38.00	19	DEL	0.998	-
EIF2AK1	27102	genome.wustl.edu	37	7	6078194	6078194	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:6078194C>T	ENST00000199389.6	-	10	1374	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	EIF2AK1_ENST00000495565.1_5'Flank|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.A286T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TACTCACAGGCAGACTCGTCC	0.542																																						dbGAP											0													121.0	116.0	118.0					7																	6078194		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1228G>A	7.37:g.6078194C>T	ENSP00000199389:p.Ala410Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A410T	ENST00000199389.6	37	c.1228	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	.	14.60	2.583409	0.46006	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.65732	-0.17;-0.17	5.74	3.7	0.42460	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.781736	0.12756	N	0.441721	T	0.51278	0.1665	L	0.51422	1.61	0.27607	N	0.948796	B;P;B	0.39424	0.197;0.673;0.31	B;B;B	0.34242	0.111;0.178;0.124	T	0.29971	-0.9994	10	0.11794	T	0.64	.	12.0609	0.53562	0.4437:0.5563:0.0:0.0	.	286;409;410	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	T	410;286;37	ENSP00000199389:A410T;ENSP00000445784:A286T	ENSP00000199389:A410T	A	-	1	0	EIF2AK1	6044720	0.451000	0.25705	0.070000	0.20053	0.651000	0.38670	0.726000	0.25984	0.647000	0.30713	0.650000	0.86243	GCC	EIF2AK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000086232		0.542	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	94	0.00	0	C	NM_014413		6078194	6078194	-1	no_errors	ENST00000199389	ensembl	human	known	69_37n	missense	72	17.05	15	SNP	0.512	T
AGO3	192669	genome.wustl.edu	37	1	36479150	36479150	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:36479150delA	ENST00000373191.4	+	10	1498				AGO3_ENST00000246314.6_Intron|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CACAGTGAAGAAAAAAAAGAG	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1150-81A>-	1.37:g.36479150delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	RNA	DEL	-	NULL	ENST00000373191.4	37	NULL	CCDS399.1	1																																																																																			EIF2C3	-	-	ENSG00000126070		0.363	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	95	0.00	0	A	NM_024852		36479150	36479150	+1	no_errors	ENST00000479395	ensembl	human	known	69_37n	rna	55	16.42	11	DEL	0.000	-
EIF4ENIF1	56478	genome.wustl.edu	37	22	31858959	31858959	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:31858959C>A	ENST00000397525.1	-	6	969	c.746G>T	c.(745-747)gGg>gTg	p.G249V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.G249V|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.G249V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	249						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTTTTTCTCCCTTTGTGATC	0.463																																						dbGAP											0													133.0	108.0	117.0					22																	31858959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.746G>T	22.37:g.31858959C>A	ENSP00000380659:p.Gly249Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.G249V	ENST00000397525.1	37	c.746	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734519	0.69189	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.66	4.65	0.58169	.	0.215747	0.47093	D	0.000254	T	0.63260	0.2496	L	0.47716	1.5	0.80722	D	1	D	0.61080	0.989	P	0.57152	0.814	T	0.61466	-0.7057	9	0.33141	T	0.24	-16.8695	13.6156	0.62105	0.0:0.9249:0.0:0.0751	.	249	Q9NRA8	4ET_HUMAN	V	249	.	ENSP00000328103:G249V	G	-	2	0	EIF4ENIF1	30188959	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.118000	0.57884	1.554000	0.49487	0.650000	0.86243	GGG	EIF4ENIF1	-	pfam_eIF4E_transporter	ENSG00000184708		0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	67	0.00	0	C	NM_019843		31858959	31858959	-1	no_errors	ENST00000330125	ensembl	human	known	69_37n	missense	50	17.74	11	SNP	1.000	A
EIF3L	51386	genome.wustl.edu	37	22	38273869	38273869	+	Silent	SNP	G	G	A	rs536868063		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507																																						dbGAP											0													73.0	63.0	67.0					22																	38273869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1266G>A	22.37:g.38273869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TIF3_suL	p.S465	ENST00000412331.2	37	c.1395	CCDS13960.1	22																																																																																			EIF3L	-	pfam_TIF3_suL	ENSG00000100129		0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	182	0.00	0	G	NM_016091		38273869	38273869	+1	no_errors	ENST00000425539	ensembl	human	known	69_37n	silent	123	26.35	44	SNP	0.025	A
EIF4G1	1981	genome.wustl.edu	37	3	184039806	184039808	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:184039806_184039808delAGG	ENST00000346169.2	+	10	1705_1707	c.1434_1436delAGG	c.(1432-1437)aaagga>aaa	p.G480del	EIF4G1_ENST00000434061.2_In_Frame_Del_p.G284del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.G480del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.G393del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.G440del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.G316del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.G440del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.G393del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.G284del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_In_Frame_Del_p.G316del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.G487del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.G480del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.G487del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.G487del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	480					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGTGAGAAAGGAGGAGAGGAA	0.527																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1434_1436delAGG	3.37:g.184039809_184039811delAGG	ENSP00000316879:p.Gly480del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.G487in_frame_del	ENST00000346169.2	37	c.1455_1457	CCDS3259.1	3																																																																																			EIF4G1	-	NULL	ENSG00000114867		0.527	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	139	0.00	0	AGG	NM_182917		184039806	184039808	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	in_frame_del	66	33.66	34	DEL	0.997:1.000:1.000	-
ELAC1	55520	genome.wustl.edu	37	18	48510608	48510608	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:48510608G>A	ENST00000269466.3	+	3	407	c.300G>A	c.(298-300)cgG>cgA	p.R100R	ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000591429.1_Silent_p.R100R|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	100					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TAGGGCTTCGGGACTTTATCT	0.507																																						dbGAP											0													119.0	107.0	111.0					18																	48510608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.300G>A	18.37:g.48510608G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NS99	Silent	SNP	pfam_Beta-lactamas-like,tigrfam_RNase_Z	p.R100	ENST00000269466.3	37	c.300	CCDS11949.1	18																																																																																			ELAC1	-	tigrfam_RNase_Z	ENSG00000141642		0.507	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC1	HGNC	protein_coding	OTTHUMT00000255992.2	95	0.00	0	G			48510608	48510608	+1	no_errors	ENST00000269466	ensembl	human	known	69_37n	silent	81	13.83	13	SNP	0.997	A
ELOVL4	6785	genome.wustl.edu	37	6	80636019	80636019	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:80636019C>T	ENST00000369816.4	-	2	480	c.180G>A	c.(178-180)gtG>gtA	p.V60V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	60					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GACCCAGCCACACAAACAGGA	0.413																																						dbGAP											0													85.0	74.0	78.0					6																	80636019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.180G>A	6.37:g.80636019C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Silent	SNP	pfam_GNS1_SUR4	p.V60	ENST00000369816.4	37	c.180	CCDS4992.1	6																																																																																			ELOVL4	-	pfam_GNS1_SUR4	ENSG00000118402		0.413	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	81	0.00	0	C			80636019	80636019	-1	no_errors	ENST00000369816	ensembl	human	known	69_37n	silent	73	22.34	21	SNP	0.997	T
EMC10	284361	genome.wustl.edu	37	19	50985132	50985132	+	Intron	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:50985132delG	ENST00000334976.6	+	7	724				CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Intron|EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)							,	77,52,3703		3,0,71,2,48,1792					,	3.7	1.0			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				-	-	-	SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	NULL	p.A234fs	ENST00000334976.6	37	c.693	CCDS12796.1	19																																																																																			EMC10	-	NULL	ENSG00000161671		0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	13	0.00	0	G	NM_175063		50985132	50985132	+1	no_errors	ENST00000376918	ensembl	human	known	69_37n	frame_shift_del	6	45.45	5	DEL	1.000	-
EMP3	2014	genome.wustl.edu	37	19	48832705	48832707	+	In_Frame_Del	DEL	GAG	GAG	-	rs182097678	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:48832705_48832707delGAG	ENST00000270221.6	+	4	579_581	c.278_280delGAG	c.(277-282)cgagga>cga	p.G95del	EMP3_ENST00000597279.1_In_Frame_Del_p.G95del|EMP3_ENST00000596315.1_In_Frame_Del_p.G26del	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	95					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		ACCATGCGACGAGGAGGTCTCTT	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.278_280delGAG	19.37:g.48832708_48832710delGAG	ENSP00000270221:p.Gly95del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH01	In_Frame_Del	DEL	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.G95in_frame_del	ENST00000270221.6	37	c.278_280	CCDS12715.1	19																																																																																			EMP3	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20	ENSG00000142227		0.586	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	HGNC	protein_coding	OTTHUMT00000465613.1	88	0.00	0	GAG	NM_001425		48832705	48832707	+1	no_errors	ENST00000270221	ensembl	human	known	69_37n	in_frame_del	72	20.00	18	DEL	0.773:0.787:1.000	-
ENAM	10117	genome.wustl.edu	37	4	71495227	71495228	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:71495227_71495228insT	ENST00000396073.3	+	2	291_292	c.10_11insT	c.(10-12)cttfs	p.L4fs		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	4					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATGTTGGTGCTTCGGTGCAGG	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.12dupT	4.37:g.71495229_71495229dupT	ENSP00000379383:p.Leu4fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Frame_Shift_Ins	INS	NULL	p.R5fs	ENST00000396073.3	37	c.10_11	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.317	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	190	0.00	0	-	NM_031889		71495227	71495228	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	frame_shift_ins	172	17.31	36	INS	1.000:0.998	T
ENOSF1	55556	genome.wustl.edu	37	18	677834	677834	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:677834C>T	ENST00000251101.7	-	13	1045	c.957G>A	c.(955-957)gcG>gcA	p.A319A	ENOSF1_ENST00000340116.7_Silent_p.A326A|ENOSF1_ENST00000319815.6_Silent_p.A89A|ENOSF1_ENST00000383578.3_Silent_p.A237A|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000580982.1_Silent_p.A243A	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	319					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GCAGGGCCTTCGCCTGTAGGA	0.448																																						dbGAP											0													131.0	128.0	129.0					18																	677834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.957G>A	18.37:g.677834C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C	p.A326	ENST00000251101.7	37	c.978	CCDS11822.1	18																																																																																			ENOSF1	-	NULL	ENSG00000132199		0.448	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOSF1	HGNC	protein_coding	OTTHUMT00000254312.2	296	0.00	0	C	NM_017512		677834	677834	-1	no_errors	ENST00000340116	ensembl	human	known	69_37n	silent	225	25.50	77	SNP	0.000	T
BBS1	582	genome.wustl.edu	37	11	66290971	66290971	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:66290971C>A	ENST00000318312.7	+	10	926	c.875C>A	c.(874-876)cCt>cAt	p.P292H	BBS1_ENST00000455748.2_Missense_Mutation_p.P195H|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.P329H|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	292					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGCGCCCAGCCTGTGGGACTT	0.577									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	dbGAP											0													80.0	77.0	78.0					11																	66290971		2200	4295	6495	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.875C>A	11.37:g.66290971C>A	ENSP00000317469:p.Pro292His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.P329H	ENST00000318312.7	37	c.986	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764730	0.90020	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.58797	0.31;0.31;0.31	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.75057	0.3798	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;P;D	0.69479	0.964;0.935;0.891;0.935	T	0.78018	-0.2368	9	0.66056	D	0.02	.	14.5363	0.67963	0.0:1.0:0.0:0.0	.	195;180;292;329	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	H	329;292;195	ENSP00000398526:P329H;ENSP00000317469:P292H;ENSP00000405764:P195H	ENSP00000317469:P292H	P	+	2	0	BBS1;CTD-3074O7.11	66047547	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.875000	0.75551	2.495000	0.84180	0.655000	0.94253	CCT	CTD-3074O7.11	-	superfamily_Quinonprotein_ADH-like	ENSG00000256349		0.577	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256349	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	74	0.00	0	C			66290971	66290971	+1	no_errors	ENST00000419755	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	1.000	A
EP400	57634	genome.wustl.edu	37	12	132554138	132554138	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:132554138C>A	ENST00000333577.4	+	52	9190	c.9081C>A	c.(9079-9081)tcC>tcA	p.S3027S	EP400_ENST00000330386.6_Silent_p.S2910S|EP400_ENST00000332482.4_Silent_p.S2954S|EP400_ENST00000389562.2_Silent_p.S2990S|EP400_ENST00000389561.2_Silent_p.S2991S			Q96L91	EP400_HUMAN	E1A binding protein p400	3027					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACCCATCTCCCAGGCCCAGA	0.657																																						dbGAP											0													57.0	62.0	61.0					12																	132554138		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9081C>A	12.37:g.132554138C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S3027	ENST00000333577.4	37	c.9081		12																																																																																			EP400	-	NULL	ENSG00000183495		0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		154	0.00	0	C	NM_015409		132554138	132554138	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	silent	90	20.35	23	SNP	0.671	A
EPB41L3	23136	genome.wustl.edu	37	18	5478365	5478365	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:5478365T>C	ENST00000341928.2	-	3	596	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E	EPB41L3_ENST00000540638.2_Missense_Mutation_p.K86E|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K86E|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K86E|RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K86E	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	86					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGAGAAAGTTTATCGTCTTCT	0.413																																						dbGAP											0													177.0	160.0	166.0					18																	5478365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.256A>G	18.37:g.5478365T>C	ENSP00000343158:p.Lys86Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.K86E	ENST00000341928.2	37	c.256	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539206	0.45176	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	T;D;T;D	0.82526	-1.45;-1.58;-1.45;-1.62	5.27	5.27	0.74061	.	0.071618	0.56097	D	0.000028	D	0.88912	0.6566	M	0.71581	2.175	0.80722	D	1	D;B;D;B	0.67145	0.996;0.045;0.99;0.156	D;B;D;B	0.77557	0.99;0.023;0.979;0.023	D	0.86263	0.1656	10	0.11794	T	0.64	.	15.1964	0.73092	0.0:0.0:0.0:1.0	.	86;86;86;86	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	E	86;86;86;86;167	ENSP00000343158:K86E;ENSP00000441174:K86E;ENSP00000341138:K86E;ENSP00000382981:K86E	ENSP00000343158:K86E	K	-	1	0	EPB41L3	5468365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.395000	0.52558	1.973000	0.57446	0.533000	0.62120	AAA	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	115	0.00	0	T	NM_012307		5478365	5478365	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	59	41.18	42	SNP	1.000	C
EPC2	26122	genome.wustl.edu	37	2	149447829	149447829	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:149447829delA	ENST00000258484.6	+	2	234	c.200delA	c.(199-201)gaafs	p.E67fs	EPC2_ENST00000409654.1_Frame_Shift_Del_p.E67fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	67					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTGTTTAGAGAAAAAAAAGAG	0.368																																						dbGAP											0													141.0	131.0	134.0					2																	149447829		1868	4105	5973	-	-	-	SO:0001589	frameshift_variant	0			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.200delA	2.37:g.149447829delA	ENSP00000258484:p.Glu67fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.E70fs	ENST00000258484.6	37	c.200	CCDS46422.1	2																																																																																			EPC2	-	pfam_Enhancer_polycomb-like_N	ENSG00000135999		0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	310	0.32	1	A	NM_015630		149447829	149447829	+1	no_errors	ENST00000258484	ensembl	human	known	69_37n	frame_shift_del	320	32.78	158	DEL	1.000	-
EPC2	26122	genome.wustl.edu	37	2	149520238	149520238	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:149520238G>T	ENST00000258484.6	+	6	849		c.e6-1			NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)						chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACCTTTTCAAGATACCATTTG	0.318																																						dbGAP											0													55.0	46.0	49.0					2																	149520238		1816	4075	5891	-	-	-	SO:0001630	splice_region_variant	0			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.816-1G>T	2.37:g.149520238G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Splice_Site	SNP	-	e6-1	ENST00000258484.6	37	c.816-1	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803693	0.70682	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.691	0.96000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPC2	149236708	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.562000	0.82300	2.671000	0.90904	0.585000	0.79938	.	EPC2	-	-	ENSG00000135999		0.318	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	51	0.00	0	G	NM_015630	Intron	149520238	149520238	+1	no_errors	ENST00000258484	ensembl	human	known	69_37n	splice_site	46	22.03	13	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43469938	43469938	+	Intron	DEL	C	C	-	rs536643580		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:43469938delC	ENST00000282041.5	-	28	4844				EPG5_ENST00000585906.1_Intron	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)						autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAAGACATTTCCCCCCATGTG	0.328																																						dbGAP											0													49.0	44.0	45.0					18																	43469938		1821	4079	5900	-	-	-	SO:0001627	intron_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4810-33G>-	18.37:g.43469938delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	RNA	DEL	-	NULL	ENST00000282041.5	37	NULL	CCDS11926.2	18																																																																																			EPG5	-	-	ENSG00000152223		0.328	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	93	0.00	0	C	NM_020964		43469938	43469938	-1	no_errors	ENST00000587973	ensembl	human	known	69_37n	rna	86	13.86	14	DEL	0.000	-
EPHA7	2045	genome.wustl.edu	37	6	93967995	93967995	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:93967995G>A	ENST00000369303.4	-	11	2116	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	644	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGACTTCACCGAATTCTCCTG	0.348																																						dbGAP											0													103.0	112.0	109.0					6																	93967995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1932C>T	6.37:g.93967995G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.F644	ENST00000369303.4	37	c.1932	CCDS5031.1	6																																																																																			EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135333		0.348	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	91	0.00	0	G			93967995	93967995	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	silent	69	32.35	33	SNP	1.000	A
EPHB4	2050	genome.wustl.edu	37	7	100411556	100411556	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:100411556G>A	ENST00000358173.3	-	9	2144	c.1676C>T	c.(1675-1677)gCa>gTa	p.A559V	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.A559V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	559					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGAGAACTGCGACCACAAT	0.632																																					GBM(200;2113 3072 25865 52728)	dbGAP											0													112.0	87.0	96.0					7																	100411556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1676C>T	7.37:g.100411556G>A	ENSP00000350896:p.Ala559Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A559V	ENST00000358173.3	37	c.1676	CCDS5706.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044120	0.75732	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.08370	3.1;3.1	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000050	T	0.18718	0.0449	L	0.45352	1.415	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;P	0.63283	0.913;0.89	T	0.03795	-1.1003	10	0.16896	T	0.51	.	17.0121	0.86409	0.0:0.0:1.0:0.0	.	559;559	Q96L35;P54760	.;EPHB4_HUMAN	V	559	ENSP00000353833:A559V;ENSP00000350896:A559V	ENSP00000350896:A559V	A	-	2	0	EPHB4	100249492	1.000000	0.71417	0.127000	0.21898	0.571000	0.35966	5.557000	0.67313	2.612000	0.88384	0.655000	0.94253	GCA	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000196411		0.632	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	67	0.00	0	G	NM_004444		100411556	100411556	-1	no_errors	ENST00000358173	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.995	A
EPHB6	2051	genome.wustl.edu	37	7	142566374	142566374	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:142566374A>G	ENST00000392957.2	+	15	2950	c.2163A>G	c.(2161-2163)gcA>gcG	p.A721A	EPHB6_ENST00000442129.1_Silent_p.A721A|EPHB6_ENST00000411471.2_Silent_p.A444A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	721	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCCGGGCCGCAGTGCTGGGTC	0.687																																						dbGAP											0													28.0	30.0	29.0					7																	142566374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2163A>G	7.37:g.142566374A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A721	ENST00000392957.2	37	c.2163	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000106123		0.687	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	34	0.00	0	A			142566374	142566374	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	silent	20	37.50	12	SNP	0.001	G
EPSTI1	94240	genome.wustl.edu	37	13	43500514	43500514	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:43500514A>G	ENST00000398762.3	-	7	614	c.615T>C	c.(613-615)agT>agC	p.S205S	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Silent_p.S205S|EPSTI1_ENST00000313640.7_Silent_p.S205S			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTTGACAGGCACTTCTGTCTG	0.438																																						dbGAP											0													256.0	240.0	245.0					13																	43500514		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.615T>C	13.37:g.43500514A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVC7|Q8NDQ7	Silent	SNP	NULL	p.S205	ENST00000398762.3	37	c.615	CCDS9387.1	13																																																																																			EPSTI1	-	NULL	ENSG00000133106		0.438	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	914	0.00	0	A	NM_001002264		43500514	43500514	-1	no_errors	ENST00000313640	ensembl	human	known	69_37n	silent	636	33.30	319	SNP	0.000	G
ERBB4	2066	genome.wustl.edu	37	2	212615430	212615430	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:212615430C>A	ENST00000342788.4	-	5	867		c.e5-1		ERBB4_ENST00000484474.1_Splice_Site|ERBB4_ENST00000436443.1_Splice_Site|ERBB4_ENST00000402597.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAACGTCCACCTGCAGAACAC	0.463										TSP Lung(8;0.080)																												dbGAP											0													122.0	106.0	111.0					2																	212615430		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.557-1G>T	2.37:g.212615430C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	-	e5-1	ENST00000342788.4	37	c.557-1	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338475	0.81911	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000260943;ENST00000435846	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6257	0.95677	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERBB4	212323675	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.673000	0.68109	2.625000	0.88918	0.650000	0.86243	.	ERBB4	-	-	ENSG00000178568		0.463	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	102	0.97	1	C	NM_001042599	Intron	212615430	212615430	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	splice_site	58	18.31	13	SNP	1.000	A
ERCC6L2	375748	genome.wustl.edu	37	9	98728878	98728878	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:98728878C>T	ENST00000288985.7	+	14	2320	c.2015C>T	c.(2014-2016)gCc>gTc	p.A672V	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A483V	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	672	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGTGAAAATGCCAAACGATAT	0.388																																						dbGAP											0													137.0	125.0	129.0					9																	98728878		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2015C>T	9.37:g.98728878C>T	ENSP00000288985:p.Ala672Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A483V	ENST00000288985.7	37	c.1448	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270988	0.80469	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	T;T	0.77229	-1.08;-1.08	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.000000	0.49916	D	0.000130	T	0.71945	0.3400	L	0.41824	1.3	0.80722	D	1	B;B	0.22414	0.023;0.069	B;B	0.17433	0.018;0.011	T	0.64495	-0.6394	10	0.27082	T	0.32	-13.8579	19.5025	0.95103	0.0:1.0:0.0:0.0	.	483;672	Q5T890-2;Q5T890	.;RAD26_HUMAN	V	672;483	ENSP00000288985:A672V;ENSP00000416286:A483V	ENSP00000288985:A672V	A	+	2	0	C9orf102	97768699	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.378000	0.73150	2.937000	0.99478	0.650000	0.86243	GCC	ERCC6L2	-	pfscan_Helicase_C	ENSG00000182150		0.388	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	136	0.00	0	C	NM_001010895		98728878	98728878	+1	no_errors	ENST00000437817	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	1.000	T
ERCC8	1161	genome.wustl.edu	37	5	60187968	60187968	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:60187968delT	ENST00000265038.5	-	10	886				ERCC8_ENST00000426742.2_Intron|ERCC8_ENST00000543101.1_Intron|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CACCTTACTGTTTTTTTTTAG	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.844-1055A>-	5.37:g.60187968delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB64|Q6FHX5|Q96GB9	RNA	DEL	-	NULL	ENST00000265038.5	37	NULL	CCDS3978.1	5																																																																																			ERCC8	-	-	ENSG00000049167		0.502	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	70	0.00	0	T	NM_000082		60187968	60187968	-1	no_errors	ENST00000462279	ensembl	human	known	69_37n	rna	39	30.36	17	DEL	0.000	-
ERMP1	79956	genome.wustl.edu	37	9	5805749	5805750	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:5805749_5805750insA	ENST00000339450.5	-	9	1673_1674	c.1584_1585insT	c.(1582-1587)tttgacfs	p.D529fs	ERMP1_ENST00000381506.3_Frame_Shift_Ins_p.D305fs|ERMP1_ENST00000543230.1_Frame_Shift_Ins_p.D107fs|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	529						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGCGAAATGTCAAAAAATACTT	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1585dupT	9.37:g.5805755_5805755dupA	ENSP00000340427:p.Asp529fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Frame_Shift_Ins	INS	pfam_Peptidase_M28,pfam_Peptidase_M20	p.D528fs	ENST00000339450.5	37	c.1585_1584	CCDS34983.1	9																																																																																			ERMP1	-	NULL	ENSG00000099219		0.401	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1	201	0.50	1	-	NM_024896		5805749	5805750	-1	no_errors	ENST00000339450	ensembl	human	known	69_37n	frame_shift_ins	164	14.58	28	INS	1.000:1.000	A
ERN1	2081	genome.wustl.edu	37	17	62125279	62125279	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:62125279G>A	ENST00000433197.3	-	19	2563	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CACATGCTTCGCTGAGGGGCG	0.453																																						dbGAP											0													86.0	87.0	87.0					17																	62125279		1952	4147	6099	-	-	-	SO:0001583	missense	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2468C>T	17.37:g.62125279G>A	ENSP00000401445:p.Ala823Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_KEN_RNase_activator,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_cat_dom	p.A823V	ENST00000433197.3	37	c.2468	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.515636	0.96402	.	.	ENSG00000178607	ENST00000433197	T	0.54279	0.58	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.33792	1.035	0.80722	D	1	D	0.60160	0.987	P	0.50352	0.638	T	0.54912	-0.8222	10	0.48119	T	0.1	-26.3543	19.363	0.94448	0.0:0.0:1.0:0.0	.	823	O75460	ERN1_HUMAN	V	823	ENSP00000401445:A823V	ENSP00000401445:A823V	A	-	2	0	ERN1	59479011	1.000000	0.71417	0.869000	0.34112	0.889000	0.51656	9.386000	0.97228	2.648000	0.89879	0.561000	0.74099	GCG	ERN1	-	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	ENSG00000178607		0.453	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	81	0.00	0	G	NM_001433		62125279	62125279	-1	no_errors	ENST00000433197	ensembl	human	known	69_37n	missense	63	22.89	19	SNP	1.000	A
ESYT2	57488	genome.wustl.edu	37	7	158557431	158557431	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:158557431G>A	ENST00000251527.5	-	9	1247	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	422	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAAGATTTGGTTGCCAACTC	0.468																																						dbGAP											0													164.0	153.0	157.0					7																	158557431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1182C>T	7.37:g.158557431G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.N394	ENST00000251527.5	37	c.1182	CCDS34791.1	7																																																																																			ESYT2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000117868		0.468	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	176	0.00	0	G	NM_020728		158557431	158557431	-1	no_errors	ENST00000251527	ensembl	human	known	69_37n	silent	121	46.46	105	SNP	1.000	A
EVI5	7813	genome.wustl.edu	37	1	93073081	93073081	+	Intron	DEL	A	A	-	rs374740162	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:93073081delA	ENST00000370331.1	-	15	1936				EVI5_ENST00000543509.1_Intron|EVI5_ENST00000491940.1_Intron|EVI5_ENST00000540033.1_Intron	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5						cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TAAAACAAACAAAAAAAAGGC	0.294														134	0.0267572	0.0825	0.0231	5008	,	,		17940	0.0		0.0089	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1926+56T>-	1.37:g.93073081delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	RNA	DEL	-	NULL	ENST00000370331.1	37	NULL	CCDS30774.1	1																																																																																			EVI5	-	-	ENSG00000067208		0.294	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	30	0.00	0	A	NM_005665		93073081	93073081	-1	no_errors	ENST00000492513	ensembl	human	known	69_37n	rna	20	27.59	8	DEL	0.000	-
EWSR1	2130	genome.wustl.edu	37	22	29684763	29684763	+	Missense_Mutation	SNP	G	G	T	rs71329463		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:29684763G>T	ENST00000397938.2	+	8	1281	c.962G>T	c.(961-963)cGc>cTc	p.R321L	EWSR1_ENST00000332035.6_Missense_Mutation_p.R265L|EWSR1_ENST00000414183.2_Missense_Mutation_p.R327L|EWSR1_ENST00000333395.6_Missense_Mutation_p.R321L|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.R321L	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	321	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGGAGGACGCGGTGGAATG	0.512			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	0													26.0	25.0	26.0					22																	29684763		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.962G>T	22.37:g.29684763G>T	ENSP00000381031:p.Arg321Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R327L	ENST00000397938.2	37	c.980	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581754	0.28180	.	.	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000414183;ENST00000333395;ENST00000332035	D;D;D;D	0.95885	-3.68;-3.83;-3.84;-3.73	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	D	0.92044	0.7479	L	0.39147	1.195	0.80722	D	1	P;P;P;P;P;B	0.43024	0.798;0.664;0.664;0.664;0.664;0.1	B;B;B;B;B;B	0.32149	0.139;0.139;0.139;0.141;0.098;0.083	D	0.91378	0.5125	10	0.38643	T	0.18	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	265;321;265;327;321;321	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	L	321;321;327;321;265	ENSP00000381031:R321L;ENSP00000385726:R321L;ENSP00000400142:R327L;ENSP00000331699:R265L	ENSP00000331699:R265L	R	+	2	0	EWSR1	28014763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.139000	0.71728	2.820000	0.97059	0.650000	0.86243	CGC	EWSR1	-	NULL	ENSG00000182944		0.512	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	50	0.00	0	G	NM_005243		29684763	29684763	+1	no_errors	ENST00000414183	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	T
F2	2147	genome.wustl.edu	37	11	46747680	46747680	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:46747680C>T	ENST00000311907.5	+	7	887	c.831C>T	c.(829-831)gcC>gcT	p.A277A	F2_ENST00000530231.1_Silent_p.A277A	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	277	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCTATGTGGCCGGGAAGCCTG	0.592																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	dbGAP											0													75.0	87.0	83.0					11																	46747680		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.831C>T	11.37:g.46747680C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_prothrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A_prothrombin,prints_Peptidase_S1A,prints_GLA_domain	p.A277	ENST00000311907.5	37	c.831	CCDS31476.1	11																																																																																			F2	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Peptidase_S1A_prothrombin,pfscan_Kringle	ENSG00000180210		0.592	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	25	0.00	0	C			46747680	46747680	+1	no_errors	ENST00000311907	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.000	T
F2RL1	2150	genome.wustl.edu	37	5	76129179	76129179	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:76129179G>A	ENST00000296677.4	+	2	953	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	249					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGGCCATTGGGGTCTTTCTGT	0.488																																						dbGAP											0													95.0	86.0	89.0					5																	76129179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.747G>A	5.37:g.76129179G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13317|Q13346|Q53XJ8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.G249	ENST00000296677.4	37	c.747	CCDS4033.1	5																																																																																			F2RL1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164251		0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL1	HGNC	protein_coding	OTTHUMT00000219957.2	177	0.00	0	G			76129179	76129179	+1	no_errors	ENST00000296677	ensembl	human	known	69_37n	silent	119	21.71	33	SNP	0.042	A
F8A1	8263	genome.wustl.edu	37	X	154115715	154115715	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:154115715C>A	ENST00000369446.2	+	1	1081	c.1066C>A	c.(1066-1068)Ctt>Att	p.L356I	F8_ENST00000330287.6_5'Flank|MIR1184-1_ENST00000408606.1_RNA|F8_ENST00000360256.4_Intron	NM_012151.3	NP_036283.2	P23610	F8I2_HUMAN	coagulation factor VIII-associated 1	356						nucleus (GO:0005634)				endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAACCACCTCCTTCACCTCGT	0.542																																						dbGAP											0													1.0	1.0	1.0					X																	154115715		148	1102	1250	-	-	-	SO:0001583	missense	0			M34677	CCDS35459.1	Xq28	2014-01-28	2011-04-13	2004-11-02	ENSG00000197932	ENSG00000277203			3547	protein-coding gene	gene with protein product		305423	"""coagulation factor VIII-associated (intronic transcript) 1"""	F8A		2110545	Standard	NM_012151		Approved	DXS522E	uc004fmv.3	P23610	OTTHUMG00000013500	ENST00000369446.2:c.1066C>A	X.37:g.154115715C>A	ENSP00000358456:p.Leu356Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY66|Q8IXP3	Missense_Mutation	SNP	NULL	p.L356I	ENST00000369446.2	37	c.1066	CCDS35459.1	X	.	.	.	.	.	.	.	.	.	.	c	15.69	2.909049	0.52439	.	.	ENSG00000197932	ENST00000369446	T	0.22134	1.97	2.41	2.41	0.29592	.	0.000000	0.53938	U	0.000046	T	0.41511	0.1162	M	0.70595	2.14	0.42799	D	0.993924	D	0.89917	1.0	D	0.83275	0.996	T	0.41556	-0.9502	10	0.87932	D	0	-10.1383	10.1844	0.42988	0.0:1.0:0.0:0.0	.	356	P23610	F8I2_HUMAN	I	356	ENSP00000358456:L356I	ENSP00000358456:L356I	L	+	1	0	F8A1	153768909	0.996000	0.38824	0.995000	0.50966	0.930000	0.56654	2.667000	0.46808	1.505000	0.48720	0.478000	0.44815	CTT	F8A1	-	NULL	ENSG00000197932		0.542	F8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8A1	HGNC	protein_coding	OTTHUMT00000037637.2	270	0.00	0	C	NM_012151		154115715	154115715	+1	no_errors	ENST00000369446	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	0.999	A
DENND6A	201627	genome.wustl.edu	37	3	57647228	57647229	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:57647228_57647229delCA	ENST00000311128.5	-	6	633_634	c.563_564delTG	c.(562-564)gtgfs	p.V188fs		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	188					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TCTGTTTGAGCACAGTGTGAAA	0.302																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.563_564delTG	3.37:g.57647230_57647231delCA	ENSP00000311401:p.Val188fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Del	DEL	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.V188fs	ENST00000311128.5	37	c.564_563	CCDS33773.1	3																																																																																			FAM116A	-	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	ENSG00000174839		0.302	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM116A	HGNC	protein_coding	OTTHUMT00000351594.1	48	0.00	0	CA	NM_152678		57647228	57647229	-1	no_errors	ENST00000311128	ensembl	human	known	69_37n	frame_shift_del	12	55.17	16	DEL	1.000:1.000	-
FAM124A	220108	genome.wustl.edu	37	13	51855067	51855067	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:51855067G>C	ENST00000322475.8	+	4	1451	c.1316G>C	c.(1315-1317)aGc>aCc	p.S439T	FAM124A_ENST00000280057.6_Missense_Mutation_p.S475T	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	439										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGGTTCTGCAGCACAGTGGAG	0.617																																						dbGAP											0													51.0	51.0	51.0					13																	51855067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1316G>C	13.37:g.51855067G>C	ENSP00000324625:p.Ser439Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.S475T	ENST00000322475.8	37	c.1424	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737841	0.30774	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.45668	0.9;0.89	5.18	0.841	0.18918	.	0.787276	0.11871	N	0.521483	T	0.26231	0.0640	L	0.40543	1.245	0.09310	N	1	B;P	0.36535	0.053;0.557	B;B	0.30495	0.013;0.116	T	0.13872	-1.0493	10	0.08599	T	0.76	-19.0494	9.5576	0.39348	0.4506:0.0:0.5494:0.0	.	439;475	Q86V42;Q86V42-2	F124A_HUMAN;.	T	439;475	ENSP00000324625:S439T;ENSP00000280057:S475T	ENSP00000280057:S475T	S	+	2	0	FAM124A	50753068	0.041000	0.20044	0.024000	0.17045	0.339000	0.28857	-0.017000	0.12590	0.207000	0.20607	0.650000	0.86243	AGC	FAM124A	-	NULL	ENSG00000150510		0.617	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	88	0.00	0	G	NM_145019		51855067	51855067	+1	no_errors	ENST00000280057	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.026	C
FAM135A	57579	genome.wustl.edu	37	6	71235047	71235047	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:71235047A>G	ENST00000418814.2	+	15	2874	c.2260A>G	c.(2260-2262)Aag>Gag	p.K754E	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.K558E|FAM135A_ENST00000457062.2_Missense_Mutation_p.K541E|FAM135A_ENST00000505868.1_Missense_Mutation_p.K754E|FAM135A_ENST00000370479.3_Missense_Mutation_p.K541E	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	754										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGATACAATTAAGTTACCAGA	0.353																																						dbGAP											0													73.0	70.0	71.0					6																	71235047		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2260A>G	6.37:g.71235047A>G	ENSP00000410768:p.Lys754Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.K754E	ENST00000418814.2	37	c.2260	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	A	12.59	1.982852	0.34942	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.88	5.88	0.94601	.	0.090399	0.85682	D	0.000000	T	0.49474	0.1559	M	0.65498	2.005	0.45035	D	0.998052	B;B;P;B	0.35033	0.38;0.397;0.481;0.39	B;B;B;B	0.40444	0.167;0.164;0.321;0.329	T	0.50833	-0.8781	10	0.27785	T	0.31	.	16.2792	0.82664	1.0:0.0:0.0:0.0	.	754;754;558;541	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	E	754;541;541;558;754	ENSP00000410768:K754E;ENSP00000359510:K541E;ENSP00000409201:K541E;ENSP00000354913:K558E;ENSP00000423307:K754E	ENSP00000354913:K558E	K	+	1	0	FAM135A	71291768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.231000	0.58639	2.243000	0.73865	0.533000	0.62120	AAG	FAM135A	-	NULL	ENSG00000082269		0.353	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	287	0.00	0	A	NM_020819		71235047	71235047	+1	no_errors	ENST00000418814	ensembl	human	known	69_37n	missense	201	38.15	124	SNP	1.000	G
TVP23C	201158	genome.wustl.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LIC7	Splice_Site	SNP	-	e5-2	ENST00000225576.3	37	c.162-2	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.	FAM18B2	-	-	ENSG00000175106		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	89	0.00	0	C	NM_145301		15441469	15441469	-1	no_errors	ENST00000523573	ensembl	human	known	69_37n	splice_site	113	17.52	24	SNP	0.998	T
FAM193A	8603	genome.wustl.edu	37	4	2648436	2648436	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:2648436C>A	ENST00000324666.5	+	5	666	c.315C>A	c.(313-315)acC>acA	p.T105T	FAM193A_ENST00000545951.1_Silent_p.T105T|FAM193A_ENST00000505311.1_Silent_p.T105T|FAM193A_ENST00000382839.3_Silent_p.T105T|FAM193A_ENST00000502458.1_Silent_p.T105T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	105										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CACACGACACCTGCAGTGAGG	0.552																																						dbGAP											0													253.0	240.0	245.0					4																	2648436		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.315C>A	4.37:g.2648436C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	NULL	p.T105	ENST00000324666.5	37	c.315	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.552	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	191	0.00	0	C	NM_003704		2648436	2648436	+1	no_errors	ENST00000324666	ensembl	human	known	69_37n	silent	132	17.50	28	SNP	0.997	A
FAM208B	54906	genome.wustl.edu	37	10	5790774	5790774	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:5790774G>A	ENST00000328090.5	+	15	6015	c.5390G>A	c.(5389-5391)aGt>aAt	p.S1797N		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1797																	ATTGAGAACAGTGGGGAGGGG	0.483																																						dbGAP											0													68.0	67.0	67.0					10																	5790774		1882	4127	6009	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5390G>A	10.37:g.5790774G>A	ENSP00000328426:p.Ser1797Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.S1797N	ENST00000328090.5	37	c.5390	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663756	0.29515	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04502	3.61	5.82	0.776	0.18532	.	1.915000	0.02086	N	0.052730	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.39210	-0.9625	10	0.37606	T	0.19	.	5.3765	0.16168	0.0:0.5362:0.1428:0.321	.	1797	Q5VWN6	F208B_HUMAN	N	1797;992	ENSP00000328426:S1797N	ENSP00000328426:S1797N	S	+	2	0	C10orf18	5830780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.114000	0.10757	0.103000	0.17682	-0.344000	0.07964	AGT	FAM208B	-	NULL	ENSG00000108021		0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	73	0.00	0	G	NM_017782		5790774	5790774	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.000	A
FAM227B	196951	genome.wustl.edu	37	15	49880220	49880220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:49880220delT	ENST00000299338.6	-	5	701	c.398delA	c.(397-399)aagfs	p.K133fs	FAM227B_ENST00000561064.1_Frame_Shift_Del_p.K133fs|FAM227B_ENST00000558862.1_5'Flank|FAM227B_ENST00000558594.1_Frame_Shift_Del_p.K133fs|FAM227B_ENST00000560246.1_Frame_Shift_Del_p.K133fs	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	133																	TACCATTATCTTTTTTTTCTT	0.269																																						dbGAP											0													57.0	61.0	59.0					15																	49880220		2192	4279	6471	-	-	-	SO:0001589	frameshift_variant	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.398delA	15.37:g.49880220delT	ENSP00000299338:p.Lys133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WS2	Frame_Shift_Del	DEL	NULL	p.K133fs	ENST00000299338.6	37	c.398	CCDS32237.1	15																																																																																			FAM227B	-	NULL	ENSG00000166262		0.269	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	223	0.00	0	T	NM_152647		49880220	49880220	-1	no_errors	ENST00000299338	ensembl	human	known	69_37n	frame_shift_del	127	42.29	96	DEL	0.999	-
FAM26E	254228	genome.wustl.edu	37	6	116836954	116836954	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:116836954delT	ENST00000368599.3	+	2	783	c.732delT	c.(730-732)tgtfs	p.C244fs	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	244					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ACCTGAAATGTTTTTTTGAAA	0.458																																						dbGAP											0													120.0	113.0	115.0					6																	116836954		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.732delT	6.37:g.116836954delT	ENSP00000357588:p.Cys244fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDJ9|B3KSR3	Frame_Shift_Del	DEL	NULL	p.F246fs	ENST00000368599.3	37	c.732	CCDS5108.1	6																																																																																			FAM26E	-	NULL	ENSG00000178033		0.458	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	259	0.38	1	T	NM_153711		116836954	116836954	+1	no_errors	ENST00000368599	ensembl	human	known	69_37n	frame_shift_del	220	14.67	38	DEL	1.000	-
STRIP1	85369	genome.wustl.edu	37	1	110584393	110584393	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:110584393G>A	ENST00000369795.3	+	8	817	c.795G>A	c.(793-795)atG>atA	p.M265I	STRIP1_ENST00000369796.1_Missense_Mutation_p.M170I	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	265					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TTGCCATCATGCTGTTTGGGA	0.532																																						dbGAP											0													205.0	184.0	191.0					1																	110584393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.795G>A	1.37:g.110584393G>A	ENSP00000358810:p.Met265Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.M265I	ENST00000369795.3	37	c.795	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998026	0.54147	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.40225	1.04;1.04	5.81	5.81	0.92471	.	0.035556	0.85682	D	0.000000	T	0.23054	0.0557	L	0.38531	1.155	0.80722	D	1	B;B	0.24576	0.106;0.005	B;B	0.23574	0.047;0.013	T	0.06075	-1.0847	10	0.19590	T	0.45	-32.6979	20.0702	0.97718	0.0:0.0:1.0:0.0	.	170;265	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	I	170;265	ENSP00000358811:M170I;ENSP00000358810:M265I	ENSP00000358810:M265I	M	+	3	0	FAM40A	110385916	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.444000	0.80532	2.733000	0.93635	0.655000	0.94253	ATG	FAM40A	-	pfam_N1221	ENSG00000143093		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40A	HGNC	protein_coding	OTTHUMT00000032213.1	95	0.00	0	G	NM_033088		110584393	110584393	+1	no_errors	ENST00000369795	ensembl	human	known	69_37n	missense	34	38.60	22	SNP	1.000	A
FAM47B	170062	genome.wustl.edu	37	X	34961255	34961255	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:34961255C>A	ENST00000329357.5	+	1	343	c.307C>A	c.(307-309)Cta>Ata	p.L103I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	103										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAAAGCGGCCCTATTTTCCGA	0.532																																						dbGAP											0													90.0	83.0	85.0					X																	34961255		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.307C>A	X.37:g.34961255C>A	ENSP00000328307:p.Leu103Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.L103I	ENST00000329357.5	37	c.307	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	c	12.96	2.094036	0.36952	.	.	ENSG00000189132	ENST00000329357	T	0.20881	2.04	0.834	-0.322	0.12713	.	.	.	.	.	T	0.41190	0.1148	M	0.79926	2.475	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.16897	-1.0387	9	0.56958	D	0.05	.	5.1894	0.15201	0.0:0.7424:0.0:0.2576	.	103	Q8NA70	FA47B_HUMAN	I	103	ENSP00000328307:L103I	ENSP00000328307:L103I	L	+	1	2	FAM47B	34871176	0.056000	0.20664	0.010000	0.14722	0.045000	0.14185	-0.020000	0.12525	-0.188000	0.10499	0.287000	0.19450	CTA	FAM47B	-	NULL	ENSG00000189132		0.532	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	157	0.00	0	C	NM_152631		34961255	34961255	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	missense	122	19.61	30	SNP	0.273	A
FAM73A	374986	genome.wustl.edu	37	1	78325075	78325075	+	Intron	DEL	T	T	-	rs368129024		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:78325075delT	ENST00000370791.3	+	10	1220				FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A							integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTTTCAGGTATTTTTTTAACA	0.428																																						dbGAP											0													77.0	73.0	74.0					1																	78325075		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1188+4T>-	1.37:g.78325075delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZG0	RNA	DEL	-	NULL	ENST00000370791.3	37	NULL	CCDS681.1	1																																																																																			FAM73A	-	-	ENSG00000180488		0.428	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	119	0.00	0	T	NM_198549		78325075	78325075	+1	no_errors	ENST00000476203	ensembl	human	known	69_37n	rna	85	16.67	17	DEL	0.150	-
SPATA31A7	26165	genome.wustl.edu	37	9	65506495	65506495	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:65506495G>A	ENST00000355045.2	-	4	1093	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	SPATA31A7_ENST00000491812.2_5'Flank	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	355					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTTTTCTGGGGTCATTCGAT	0.423																																						dbGAP											0													27.0	31.0	30.0					9																	65506495		879	2172	3051	-	-	-	SO:0001819	synonymous_variant	0				CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.1065C>T	9.37:g.65506495G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZK4|Q9Y4Q5	Silent	SNP	NULL	p.T355	ENST00000355045.2	37	c.1065	CCDS43825.1	9																																																																																			FAM75A7	-	NULL	ENSG00000234734		0.423	SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A7	HGNC	protein_coding	OTTHUMT00000036952.1	498	0.00	0	G	NM_015667		65506495	65506495	-1	no_errors	ENST00000355045	ensembl	human	known	69_37n	silent	359	18.22	80	SNP	0.046	A
RMDN2	151393	genome.wustl.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						dbGAP											0													67.0	73.0	71.0					2																	38178783		2195	4296	6491	-	-	-	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	NULL	p.F144fs	ENST00000406384.1	37	c.425	CCDS54351.1	2																																																																																			FAM82A1	-	NULL	ENSG00000115841		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	275	0.72	2	T	NM_144713		38178783	38178783	+1	no_errors	ENST00000234195	ensembl	human	known	69_37n	frame_shift_del	177	29.89	78	DEL	0.000	-
FAM98B	283742	genome.wustl.edu	37	15	38762573	38762573	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:38762573C>T	ENST00000491535.1	+	4	506	c.498C>T	c.(496-498)gaC>gaT	p.D166D	FAM98B_ENST00000397609.2_Silent_p.D166D	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	166						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CAACTTCTGACATTCCGCATA	0.303																																						dbGAP											0													55.0	56.0	56.0					15																	38762573		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.498C>T	15.37:g.38762573C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUW5|Q8N935	Silent	SNP	pfam_Uncharacterised_FAM98	p.D166	ENST00000491535.1	37	c.498	CCDS42015.1	15																																																																																			FAM98B	-	pfam_Uncharacterised_FAM98	ENSG00000171262		0.303	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	HGNC	protein_coding	OTTHUMT00000252071.2	41	0.00	0	C	NM_173611		38762573	38762573	+1	no_errors	ENST00000397609	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	1.000	T
FANCM	57697	genome.wustl.edu	37	14	45658248	45658250	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:45658248_45658250delGAG	ENST00000267430.5	+	20	5108_5110	c.5023_5025delGAG	c.(5023-5025)gagdel	p.E1677del	FANCM_ENST00000542564.2_In_Frame_Del_p.E1651del	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1677					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGATTCAAGTGAGGAGGAGAACA	0.33								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5023_5025delGAG	14.37:g.45658254_45658256delGAG	ENSP00000267430:p.Glu1677del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1677in_frame_del	ENST00000267430.5	37	c.5023_5025	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.330	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	216	0.00	0	GAG	XM_048128		45658248	45658250	+1	no_errors	ENST00000267430	ensembl	human	known	69_37n	in_frame_del	155	11.93	21	DEL	1.000:1.000:0.997	-
FAR2	55711	genome.wustl.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						dbGAP											0													108.0	116.0	113.0					12																	29450110		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	pfam_Male_sterile_NAD-bd,pfam_Malesterile,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.I177fs	ENST00000536681.3	37	c.522	CCDS8717.1	12																																																																																			FAR2	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase	ENSG00000064763		0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	203	0.49	1	A	NM_018099		29450110	29450110	+1	no_errors	ENST00000182377	ensembl	human	known	69_37n	frame_shift_del	213	18.11	48	DEL	0.992	-
FAT4	79633	genome.wustl.edu	37	4	126238506	126238506	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:126238506G>A	ENST00000394329.3	+	1	953	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGGACTTCGAAGCTCGGCG	0.642											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													27.0	33.0	31.0					4																	126238506		2021	4165	6186	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.940G>A	4.37:g.126238506G>A	ENSP00000377862:p.Glu314Lys	Somatic	1548	WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E314K	ENST00000394329.3	37	c.940	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125574	0.37533	.	.	ENSG00000196159	ENST00000394329	T	0.72394	-0.65	4.96	3.18	0.36537	Cadherin (4);Cadherin-like (1);	0.000000	0.34628	U	0.003811	D	0.85754	0.5770	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85660	0.1288	10	0.46703	T	0.11	.	11.4921	0.50387	0.0:0.1363:0.7218:0.1419	.	314	Q6V0I7	FAT4_HUMAN	K	314	ENSP00000377862:E314K	ENSP00000377862:E314K	E	+	1	0	FAT4	126457956	1.000000	0.71417	0.997000	0.53966	0.264000	0.26372	9.662000	0.98603	0.455000	0.26910	-0.175000	0.13238	GAA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.642	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	35	0.00	0	G	NM_024582		126238506	126238506	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	A
FBXL14	144699	genome.wustl.edu	37	12	1702885	1702885	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:1702885G>T	ENST00000339235.3	-	1	446	c.348C>A	c.(346-348)atC>atA	p.I116I	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	116					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GCAGGGAGCCGATCTCCTGCA	0.632																																						dbGAP											0													53.0	56.0	55.0					12																	1702885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.348C>A	12.37:g.1702885G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.I116	ENST00000339235.3	37	c.348	CCDS8509.1	12																																																																																			FBXL14	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000171823		0.632	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	38	0.00	0	G	NM_152441		1702885	1702885	-1	no_errors	ENST00000339235	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	1.000	T
FBXO2	26232	genome.wustl.edu	37	1	11709979	11709979	+	Intron	SNP	C	C	A	rs139935373	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:11709979C>A	ENST00000354287.4	-	3	863				FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2						cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTTCCCACCTCCTCCACCC	0.597																																						dbGAP											0													125.0	111.0	116.0					1																	11709979		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.521+22G>T	1.37:g.11709979C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	RNA	SNP	-	NULL	ENST00000354287.4	37	NULL	CCDS130.1	1																																																																																			FBXO2	-	-	ENSG00000116661		0.597	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO2	HGNC	protein_coding	OTTHUMT00000005764.1	44	0.00	0	C	NM_012168		11709979	11709979	-1	no_errors	ENST00000466919	ensembl	human	known	69_37n	rna	8	46.67	7	SNP	0.000	A
FBXO21	23014	genome.wustl.edu	37	12	117610351	117610351	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:117610351C>A	ENST00000330622.5	-	7	937	c.938G>T	c.(937-939)cGg>cTg	p.R313L	FBXO21_ENST00000427718.2_Missense_Mutation_p.R313L|FBXO21_ENST00000549689.1_5'UTR			O94952	FBX21_HUMAN	F-box protein 21	313					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCCCAACTGCCGAGCAATTGT	0.463																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											0													85.0	79.0	81.0					12																	117610351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.938G>T	12.37:g.117610351C>A	ENSP00000328187:p.Arg313Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.R313L	ENST00000330622.5	37	c.938	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927216	0.92389	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	T;T	0.55413	0.52;0.52	5.45	5.45	0.79879	F-box domain, Skp2-like (1);	0.061439	0.64402	D	0.000006	T	0.74612	0.3739	M	0.87456	2.885	0.47123	D	0.99932	P;D;P	0.57257	0.949;0.979;0.839	P;P;B	0.59546	0.621;0.859;0.406	T	0.77800	-0.2452	10	0.51188	T	0.08	-14.3796	19.2942	0.94115	0.0:1.0:0.0:0.0	.	229;313;313	Q8IUQ5;O94952;O94952-1	.;FBX21_HUMAN;.	L	313;229;229;313	ENSP00000414468:R313L;ENSP00000328187:R313L	ENSP00000257563:R229L	R	-	2	0	FBXO21	116094734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.163000	0.64948	2.579000	0.87056	0.655000	0.94253	CGG	FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.463	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	175	0.00	0	C	NM_033624		117610351	117610351	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	missense	151	15.64	28	SNP	1.000	A
FBXW4	6468	genome.wustl.edu	37	10	103371089	103371089	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:103371089G>T	ENST00000331272.7	-	9	1816	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	FBXW4_ENST00000470093.1_5'UTR	NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	400					cartilage development (GO:0051216)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|positive regulation of mesenchymal cell proliferation (GO:0002053)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	ubiquitin ligase complex (GO:0000151)				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		TTGTAAGACAGGGCAGCATAG	0.597																																						dbGAP											0													90.0	85.0	87.0					10																	103371089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF281859	CCDS31271.1	10q24	2013-01-09	2007-02-08	2005-03-12	ENSG00000107829	ENSG00000107829		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	10847	protein-coding gene	gene with protein product		608071	"""split hand/foot malformation (ectrodactyly) type 3"", ""F-box and WD-40 domain protein 4"""	SHFM3		8723077, 7912888	Standard	XM_005270053		Approved	Fbw4, dactylin	uc001kto.3	P57775	OTTHUMG00000018938	ENST00000331272.7:c.1198C>A	10.37:g.103371089G>T	ENSP00000359149:p.Leu400Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVS1|Q96IM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L400M	ENST00000331272.7	37	c.1198	CCDS31271.1	10	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686245	0.68157	.	.	ENSG00000107829	ENST00000331272;ENST00000389046	T	0.74526	-0.85	5.57	4.62	0.57501	WD40 repeat-like-containing domain (1);	0.085186	0.48767	D	0.000162	T	0.79269	0.4417	M	0.64676	1.99	0.46298	D	0.998978	D	0.63880	0.993	P	0.56343	0.796	T	0.77437	-0.2588	10	0.35671	T	0.21	-9.1226	12.43	0.55569	0.0721:0.1312:0.7967:0.0	.	400	P57775	FBXW4_HUMAN	M	400	ENSP00000359149:L400M	ENSP00000359149:L400M	L	-	1	2	FBXW4	103361079	1.000000	0.71417	0.959000	0.39883	0.944000	0.59088	2.306000	0.43673	2.618000	0.88619	0.561000	0.74099	CTG	FBXW4	-	superfamily_WD40_repeat_dom	ENSG00000107829		0.597	FBXW4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW4	HGNC	protein_coding	OTTHUMT00000049979.2	32	0.00	0	G	NM_022039		103371089	103371089	-1	no_errors	ENST00000331272	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.772	T
FCGBP	8857	genome.wustl.edu	37	19	40399678	40399678	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:40399678C>T	ENST00000221347.6	-	13	6024	c.6017G>A	c.(6016-6018)gGc>gAc	p.G2006D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2006	TIL 4.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCAGCCGCAGCCGTTGTTGAG	0.657																																						dbGAP											0													2.0	3.0	3.0					19																	40399678		666	1545	2211	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6017G>A	19.37:g.40399678C>T	ENSP00000221347:p.Gly2006Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G2006D	ENST00000221347.6	37	c.6017	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	9.498	1.102504	0.20632	.	.	ENSG00000090920	ENST00000221347	T	0.18016	2.24	2.86	1.76	0.24704	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	.	.	.	.	T	0.15478	0.0373	L	0.56769	1.78	0.30258	N	0.793453	B	0.06786	0.001	B	0.17722	0.019	T	0.22103	-1.0226	9	0.12430	T	0.62	.	8.994	0.36041	0.0:0.8768:0.0:0.1232	.	2006	Q9Y6R7	FCGBP_HUMAN	D	2006	ENSP00000221347:G2006D	ENSP00000221347:G2006D	G	-	2	0	FCGBP	45091518	0.990000	0.36364	0.871000	0.34182	0.203000	0.24098	3.327000	0.52045	1.450000	0.47717	0.298000	0.19748	GGC	FCGBP	-	superfamily_TIL_dom	ENSG00000090920		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	14	0.00	0	C	NM_003890		40399678	40399678	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	4	42.86	3	SNP	0.941	T
FCGR1A	2209	genome.wustl.edu	37	1	149755712	149755712	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:149755712G>A	ENST00000369168.4	+	3	260	c.206G>A	c.(205-207)aGc>aAc	p.S69N	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	69	Ig-like C2-type 1.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCGACCCCCAGCTACAGAATC	0.547																																						dbGAP											0													33.0	33.0	33.0					1																	149755712		2179	4245	6424	-	-	-	SO:0001583	missense	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.206G>A	1.37:g.149755712G>A	ENSP00000358165:p.Ser69Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S69N	ENST00000369168.4	37	c.206	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	G	9.115	1.007593	0.19199	.	.	ENSG00000150337	ENST00000369168	T	0.11821	2.74	3.13	-1.7	0.08159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.321200	0.04899	N	0.450954	T	0.04679	0.0127	L	0.61218	1.895	0.09310	N	0.999997	B	0.12013	0.005	B	0.21546	0.035	T	0.42582	-0.9443	10	0.30854	T	0.27	.	4.4633	0.11676	0.2337:0.3507:0.4156:0.0	.	69	P12314	FCGR1_HUMAN	N	69	ENSP00000358165:S69N	ENSP00000358165:S69N	S	+	2	0	FCGR1A	148022336	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.479000	0.06567	-0.509000	0.06532	0.411000	0.27672	AGC	FCGR1A	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000150337		0.547	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	161	0.00	0	G	NM_000566		149755712	149755712	+1	no_errors	ENST00000369168	ensembl	human	known	69_37n	missense	139	16.77	28	SNP	0.003	A
FDX1	2230	genome.wustl.edu	37	11	110333084	110333084	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:110333084G>A	ENST00000260270.2	+	4	685	c.447G>A	c.(445-447)cgG>cgA	p.R149R		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	149	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	ACAGATCACGGTTGGGCTGCC	0.398																																						dbGAP											0													100.0	86.0	91.0					11																	110333084		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.447G>A	11.37:g.110333084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ14|Q53YD6	Silent	SNP	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin	p.R149	ENST00000260270.2	37	c.447	CCDS8344.1	11																																																																																			FDX1	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin	ENSG00000137714		0.398	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDX1	HGNC	protein_coding	OTTHUMT00000390590.1	49	0.00	0	G	NM_004109		110333084	110333084	+1	no_errors	ENST00000260270	ensembl	human	known	69_37n	silent	26	18.75	6	SNP	0.801	A
FER	2241	genome.wustl.edu	37	5	108203542	108203542	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:108203542G>A	ENST00000281092.4	+	6	940	c.556G>A	c.(556-558)Gta>Ata	p.V186I	FER_ENST00000438717.2_Missense_Mutation_p.V11I|FER_ENST00000536402.1_Missense_Mutation_p.V186I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	186	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CAATCAGTATGTATTGGCGTT	0.393																																					Colon(146;1051 1799 9836 27344 47401)	dbGAP											0													158.0	125.0	136.0					5																	108203542		2202	4300	6502	-	-	-	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.556G>A	5.37:g.108203542G>A	ENSP00000281092:p.Val186Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.V186I	ENST00000281092.4	37	c.556	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454430	0.84209	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	T;T;T	0.42513	0.97;0.97;2.53	5.53	4.67	0.58626	.	0.053673	0.85682	N	0.000000	T	0.64659	0.2618	M	0.77820	2.39	0.58432	D	0.999998	D	0.64830	0.994	D	0.70716	0.97	T	0.70063	-0.4975	10	0.72032	D	0.01	-13.5965	14.6417	0.68729	0.0701:0.0:0.9299:0.0	.	186	P16591	FER_HUMAN	I	186;186;11	ENSP00000281092:V186I;ENSP00000442627:V186I;ENSP00000394297:V11I	ENSP00000281092:V186I	V	+	1	0	FER	108231441	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.446000	0.80609	1.470000	0.48102	0.655000	0.94253	GTA	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr	ENSG00000151422		0.393	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	110	0.00	0	G	NM_005246		108203542	108203542	+1	no_errors	ENST00000281092	ensembl	human	known	69_37n	missense	53	51.82	57	SNP	1.000	A
FGF13	2258	genome.wustl.edu	37	X	137939823	137939823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:137939823delG	ENST00000370603.3	-	2	67	c.68delC	c.(67-69)cctfs	p.P23fs	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000441825.2_5'UTR			Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTGTGTGCCAGGGGGGGCGTC	0.433																																						dbGAP											0													100.0	85.0	89.0					X																	137939823		1568	3582	5150	-	-	-	SO:0001589	frameshift_variant	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000370603.3:c.68delC	X.37:g.137939823delG	ENSP00000359635:p.Pro23fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Frame_Shift_Del	DEL	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.P23fs	ENST00000370603.3	37	c.68	CCDS55513.1	X																																																																																			FGF13	-	NULL	ENSG00000129682		0.433	FGF13-201	KNOWN	basic|CCDS	protein_coding	FGF13	HGNC	protein_coding		210	0.00	0	G	NM_004114		137939823	137939823	-1	no_errors	ENST00000370603	ensembl	human	known	69_37n	frame_shift_del	94	29.20	40	DEL	1.000	-
FGF23	8074	genome.wustl.edu	37	12	4479729	4479729	+	Missense_Mutation	SNP	C	C	T	rs193922702		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:4479729C>T	ENST00000237837.1	-	3	681	c.536G>A	c.(535-537)cGg>cAg	p.R179Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	179		Cleavage; by proprotein convertases.	R -> Q (in ADHR; C-terminal processing is abolished; reduced proteolysis by PHEX; resistant to cleavage by furin). {ECO:0000269|PubMed:11062477}.|R -> W (in ADHR; C-terminal processing is abolished; dbSNP:rs28937882). {ECO:0000269|PubMed:11062477}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R179Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCGGCGCTCCGGGTGTGCCG	0.682																																						dbGAP											1	Substitution - Missense(1)	kidney(1)	GRCh37	CM002777	FGF23	M							28.0	34.0	32.0					12																	4479729		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.536G>A	12.37:g.4479729C>T	ENSP00000237837:p.Arg179Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V758	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.R179Q	ENST00000237837.1	37	c.536	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948317	0.53186	.	.	ENSG00000118972	ENST00000237837	D	0.88201	-2.35	4.94	4.94	0.65067	.	0.238358	0.42548	D	0.000686	D	0.90892	0.7138	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	D	0.90559	0.4514	10	0.41790	T	0.15	-7.0191	18.3517	0.90340	0.0:1.0:0.0:0.0	.	179	Q9GZV9	FGF23_HUMAN	Q	179	ENSP00000237837:R179Q	ENSP00000237837:R179Q	R	-	2	0	FGF23	4349990	1.000000	0.71417	0.976000	0.42696	0.012000	0.07955	5.010000	0.64004	2.562000	0.86427	0.549000	0.68633	CGG	FGF23	-	NULL	ENSG00000118972		0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	50	0.00	0	C			4479729	4479729	-1	no_errors	ENST00000237837	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	0.988	T
FGF5	2250	genome.wustl.edu	37	4	81207950	81207950	+	3'UTR	SNP	G	G	A	rs563131467		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:81207950G>A	ENST00000312465.7	+	0	1157				FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAAGTCACGTCATTTGTTT	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16878	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.*124G>A	4.37:g.81207950G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R554|O75846|Q3Y8M3|Q8NF90	RNA	SNP	-	NULL	ENST00000312465.7	37	NULL	CCDS34021.1	4																																																																																			FGF5	-	-	ENSG00000138675		0.383	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	56	0.00	0	G			81207950	81207950	+1	no_errors	ENST00000503413	ensembl	human	known	69_37n	rna	56	16.42	11	SNP	0.238	A
FGG	2266	genome.wustl.edu	37	4	155527997	155527997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:155527997delA	ENST00000336098.3	-	8	1027	c.989delT	c.(988-990)ttcfs	p.F330fs	FGG_ENST00000405164.1_Frame_Shift_Del_p.F338fs|FGG_ENST00000407946.1_Frame_Shift_Del_p.F338fs|FGG_ENST00000404648.3_Frame_Shift_Del_p.F330fs	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	330	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ATGGGATGTGAAAAACTTGTC	0.468																																						dbGAP											0													251.0	224.0	233.0					4																	155527997		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.989delT	4.37:g.155527997delA	ENSP00000336829:p.Phe330fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Frame_Shift_Del	DEL	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.F330fs	ENST00000336098.3	37	c.989	CCDS3788.1	4																																																																																			FGG	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000171557		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	271	0.00	0	A	NM_021870		155527997	155527997	-1	no_errors	ENST00000336098	ensembl	human	known	69_37n	frame_shift_del	259	14.19	43	DEL	1.000	-
FH	2271	genome.wustl.edu	37	1	241669359	241669359	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:241669359A>G	ENST00000366560.3	-	6	886	c.848T>C	c.(847-849)tTa>tCa	p.L283S		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	283					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCTAGTATTTAAACCTGTACC	0.388			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	dbGAP	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	0													124.0	120.0	121.0					1																	241669359		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.848T>C	1.37:g.241669359A>G	ENSP00000355518:p.Leu283Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANK7	Missense_Mutation	SNP	pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII	p.L283S	ENST00000366560.3	37	c.848	CCDS1617.1	1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573072	0.86542	.	.	ENSG00000091483	ENST00000366560	D	0.99552	-6.15	5.79	5.79	0.91817	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.068663	0.56097	D	0.000022	D	0.99792	0.9912	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96936	0.9684	10	0.87932	D	0	-24.5898	14.0936	0.65006	1.0:0.0:0.0:0.0	.	283	P07954	FUMH_HUMAN	S	283	ENSP00000355518:L283S	ENSP00000355518:L283S	L	-	2	0	FH	239735982	1.000000	0.71417	0.811000	0.32455	0.992000	0.81027	8.669000	0.91163	2.198000	0.70561	0.533000	0.62120	TTA	FH	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII	ENSG00000091483		0.388	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FH	HGNC	protein_coding	OTTHUMT00000095490.1	139	0.00	0	A	NM_000143		241669359	241669359	-1	no_errors	ENST00000366560	ensembl	human	known	69_37n	missense	89	31.01	40	SNP	0.991	G
FH	2271	genome.wustl.edu	37	1	241680545	241680545	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:241680545A>C	ENST00000366560.3	-	2	242	c.204T>G	c.(202-204)taT>taG	p.Y68*	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	68					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCTGGGCGCCATAATACTTAT	0.403			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	dbGAP	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	0													137.0	124.0	128.0					1																	241680545		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.204T>G	1.37:g.241680545A>C	ENSP00000355518:p.Tyr68*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANK7	Nonsense_Mutation	SNP	pfam_Lyase1_N,pfam_Fumarase_C_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,tigrfam_Fum_hydII	p.Y68*	ENST00000366560.3	37	c.204	CCDS1617.1	1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843375	0.51057	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.75	2.19	0.27852	.	0.176319	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-5.7812	10.0942	0.42464	0.7816:0.0:0.2184:0.0	.	.	.	.	X	68	.	ENSP00000355518:Y68X	Y	-	3	2	FH	239747168	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	1.029000	0.30140	0.174000	0.19809	-1.162000	0.01777	TAT	FH	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Fum_hydII	ENSG00000091483		0.403	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FH	HGNC	protein_coding	OTTHUMT00000095490.1	84	0.00	0	A	NM_000143		241680545	241680545	-1	no_errors	ENST00000366560	ensembl	human	known	69_37n	nonsense	90	19.47	22	SNP	0.998	C
FHDC1	85462	genome.wustl.edu	37	4	153864297	153864299	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:153864297_153864299delCCT	ENST00000511601.1	+	2	276_278	c.88_90delCCT	c.(88-90)cctdel	p.P32del	FHDC1_ENST00000260008.3_In_Frame_Del_p.P32del			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	32									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGGGCAGAcacctcctccagcac	0.522																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.88_90delCCT	4.37:g.153864300_153864302delCCT	ENSP00000427567:p.Pro32del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.P32in_frame_del	ENST00000511601.1	37	c.88_90	CCDS34081.1	4																																																																																			FHDC1	-	NULL	ENSG00000137460		0.522	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	52	0.00	0	CCT	NM_033393		153864297	153864299	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	in_frame_del	28	24.32	9	DEL	0.067:0.117:0.006	-
FICD	11153	genome.wustl.edu	37	12	108912608	108912608	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:108912608C>T	ENST00000552695.1	+	3	968	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	245					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						GGAAATCAGGCACATCCTGGA	0.577																																						dbGAP											0													121.0	90.0	100.0					12																	108912608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.733C>T	12.37:g.108912608C>T	ENSP00000446479:p.His245Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H245Y	ENST00000552695.1	37	c.733	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083404	0.36758	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.07	6.07	0.98685	Filamentation induced by cAMP/death on curing-related (1);	0.000000	0.85682	D	0.000000	T	0.60792	0.2296	L	0.36672	1.1	0.80722	D	1	D	0.54207	0.965	P	0.51079	0.658	T	0.52660	-0.8546	9	0.28530	T	0.3	-16.2832	20.6439	0.99570	0.0:1.0:0.0:0.0	.	245	Q9BVA6	FICD_HUMAN	Y	245	.	ENSP00000446479:H245Y	H	+	1	0	FICD	107436738	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CAC	FICD	-	NULL	ENSG00000198855		0.577	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	90	0.00	0	C	NM_007076		108912608	108912608	+1	no_errors	ENST00000552695	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	1.000	T
FIP1L1	81608	genome.wustl.edu	37	4	54319187	54319188	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:54319187_54319188insAG	ENST00000337488.6	+	16	1580_1581	c.1386_1387insAG	c.(1387-1389)agafs	p.R463fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.R389fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.R457fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	463	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			aagaccgagatagagagagaga	0.53			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	dbGAP		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1395_1396dupAG	4.37:g.54319196_54319197dupAG	ENSP00000336752:p.Arg463fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	pfam_Fip1	p.D465fs	ENST00000337488.6	37	c.1386_1387	CCDS3491.1	4																																																																																			FIP1L1	-	NULL	ENSG00000145216		0.530	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	149	0.00	0	-	NM_030917		54319187	54319188	+1	no_errors	ENST00000337488	ensembl	human	known	69_37n	frame_shift_ins	117	10.00	13	INS	0.078:0.091	AG
FIP1L1	81608	genome.wustl.edu	37	4	54319218	54319218	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:54319218C>T	ENST00000337488.6	+	16	1611	c.1417C>T	c.(1417-1419)Cgt>Tgt	p.R473C	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R399C|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R467C	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	473	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agagcgagaccgtgatcggga	0.517			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	dbGAP		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													83.0	73.0	76.0					4																	54319218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1417C>T	4.37:g.54319218C>T	ENSP00000336752:p.Arg473Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.R473C	ENST00000337488.6	37	c.1417	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050126	0.75846	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.09350	2.99;2.99;2.99	5.18	4.33	0.51752	.	0.000000	0.64402	D	0.000005	T	0.31389	0.0795	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.973;0.988;0.973	T	0.06862	-1.0803	10	0.87932	D	0	-12.212	15.2311	0.73390	0.1415:0.8585:0.0:0.0	.	467;467;399;473	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	C	473;467;399;130	ENSP00000336752:R473C;ENSP00000351383:R467C;ENSP00000302993:R399C	ENSP00000302993:R399C	R	+	1	0	FIP1L1	54013975	0.992000	0.36948	0.110000	0.21437	0.931000	0.56810	3.133000	0.50531	1.264000	0.44198	0.655000	0.94253	CGT	FIP1L1	-	NULL	ENSG00000145216		0.517	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	140	0.00	0	C	NM_030917		54319218	54319218	+1	no_errors	ENST00000337488	ensembl	human	known	69_37n	missense	102	20.31	26	SNP	0.996	T
FKBP15	23307	genome.wustl.edu	37	9	115959278	115959278	+	Silent	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:115959278T>A	ENST00000238256.3	-	9	915	c.798A>T	c.(796-798)tcA>tcT	p.S266S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	266	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCCCTTCTGAGCCAACAG	0.493																																						dbGAP											0													116.0	115.0	115.0					9																	115959278		1965	4159	6124	-	-	-	SO:0001819	synonymous_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.798A>T	9.37:g.115959278T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.S266	ENST00000238256.3	37	c.798	CCDS48007.1	9																																																																																			FKBP15	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000119321		0.493	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		230	0.00	0	T	NM_015258		115959278	115959278	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	silent	162	26.36	58	SNP	0.969	A
FKBP15	23307	genome.wustl.edu	37	9	115969535	115969535	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:115969535T>C	ENST00000238256.3	-	3	328	c.211A>G	c.(211-213)Act>Gct	p.T71A	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	71					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ATTGTGGGAGTGCTCATGGTG	0.438																																						dbGAP											0													371.0	388.0	382.0					9																	115969535		2117	4237	6354	-	-	-	SO:0001583	missense	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.211A>G	9.37:g.115969535T>C	ENSP00000238256:p.Thr71Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.T71A	ENST00000238256.3	37	c.211	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	T	3.713	-0.059090	0.07317	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.26373	2.18;2.18;1.74	6.04	2.26	0.28386	.	.	.	.	.	T	0.05686	0.0149	N	0.00583	-1.355	0.29059	N	0.884017	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.38090	-0.9677	9	0.08837	T	0.75	-6.887	4.785	0.13220	0.1511:0.1644:0.0:0.6844	.	71;71;71	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	A	96;71;96	ENSP00000416158:T96A;ENSP00000238256:T71A;ENSP00000415733:T96A	ENSP00000238256:T71A	T	-	1	0	FKBP15	115009356	0.970000	0.33590	0.867000	0.34043	0.014000	0.08584	0.179000	0.16840	1.115000	0.41800	0.460000	0.39030	ACT	FKBP15	-	NULL	ENSG00000119321		0.438	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		240	0.00	0	T	NM_015258		115969535	115969535	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	missense	168	34.36	89	SNP	0.987	C
FKBP5	2289	genome.wustl.edu	37	6	35558935	35558935	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:35558935T>C	ENST00000539068.1	-	7	930	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	FKBP5_ENST00000542713.1_Intron|FKBP5_ENST00000536438.1_Missense_Mutation_p.Y243C|FKBP5_ENST00000357266.4_Missense_Mutation_p.Y243C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y64C	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	243	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGTAACTTCATATATAAGCTC	0.338																																						dbGAP											0													126.0	125.0	125.0					6																	35558935		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.728A>G	6.37:g.35558935T>C	ENSP00000441205:p.Tyr243Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.Y243C	ENST00000539068.1	37	c.728	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478549	0.84747	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.68	5.68	0.88126	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.94006	0.8080	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95184	0.8302	10	0.87932	D	0	-12.3997	14.7931	0.69857	0.0:0.0:0.0:1.0	.	243	Q13451	FKBP5_HUMAN	C	243;243;243;243;64;206	ENSP00000444810:Y243C;ENSP00000349811:Y243C;ENSP00000441205:Y243C;ENSP00000445412:Y64C	ENSP00000338160:Y243C	Y	-	2	0	FKBP5	35666913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.860000	0.75473	2.289000	0.77006	0.460000	0.39030	TAT	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.338	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2	108	0.00	0	T			35558935	35558935	-1	no_errors	ENST00000337746	ensembl	human	known	69_37n	missense	113	20.42	29	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152276486	152276486	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:152276486G>C	ENST00000368799.1	-	3	10911	c.10876C>G	c.(10876-10878)Cat>Gat	p.H3626D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3626	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATCCATGTCTCTCTCCT	0.547									Ichthyosis																													dbGAP											0													271.0	216.0	235.0					1																	152276486		2201	4296	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10876C>G	1.37:g.152276486G>C	ENSP00000357789:p.His3626Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.H3626D	ENST00000368799.1	37	c.10876	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135903	0.21123	.	.	ENSG00000143631	ENST00000368799	T	0.05786	3.39	4.39	-0.0464	0.13847	.	.	.	.	.	T	0.05686	0.0149	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	D	0.72338	0.977	T	0.25745	-1.0123	9	0.12766	T	0.61	.	3.561	0.07882	0.1947:0.0:0.4655:0.3398	.	3626	P20930	FILA_HUMAN	D	3626	ENSP00000357789:H3626D	ENSP00000357789:H3626D	H	-	1	0	FLG	150543110	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.464000	0.21988	0.203000	0.20529	0.502000	0.49764	CAT	FLG	-	pfam_Filaggrin	ENSG00000143631		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	588	0.17	1	G	NM_002016		152276486	152276486	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	591	16.41	116	SNP	0.000	C
MROH5	389690	genome.wustl.edu	37	8	142506590	142506590	+	RNA	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:142506590delG	ENST00000430863.1	-	0	172					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TGTGGAGACAGGGGGGGAGAT	0.557																																						dbGAP											0													49.0	54.0	53.0					8																	142506590		2042	4181	6223	-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506590delG		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.P31fs	ENST00000430863.1	37	c.92		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.557	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	33	0.00	0	G	NM_207414		142506590	142506590	-1	pseudogene	ENST00000430863	ensembl	human	known	69_37n	frame_shift_del	11	40.00	10	DEL	0.000	-
FLNB	2317	genome.wustl.edu	37	3	58081909	58081910	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:58081909_58081910delTG	ENST00000295956.4	+	6	1113_1114	c.948_949delTG	c.(946-951)tctgtgfs	p.V317fs	FLNB_ENST00000357272.4_Frame_Shift_Del_p.V317fs|FLNB_ENST00000490882.1_Frame_Shift_Del_p.V317fs|FLNB_ENST00000429972.2_Frame_Shift_Del_p.V317fs|FLNB_ENST00000493452.1_Frame_Shift_Del_p.V148fs|FLNB_ENST00000419752.2_Frame_Shift_Del_p.V148fs|FLNB_ENST00000358537.3_Frame_Shift_Del_p.V317fs|FLNB_ENST00000348383.5_Frame_Shift_Del_p.V317fs	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	317					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACATACTCTGTGGAGTATCT	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.948_949delTG	3.37:g.58081911_58081912delTG	ENSP00000295956:p.Val317fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V317fs	ENST00000295956.4	37	c.948_949	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.535	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	70	0.00	0	TG	NM_001457		58081909	58081910	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	frame_shift_del	32	17.95	7	DEL	0.998:1.000	-
FLNC	2318	genome.wustl.edu	37	7	128482402	128482402	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:128482402G>A	ENST00000325888.8	+	14	2500	c.2239G>A	c.(2239-2241)Gta>Ata	p.V747I	FLNC_ENST00000346177.6_Missense_Mutation_p.V747I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	747					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGGGAGGCGTAAACGTGCC	0.662											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	75.0	71.0					7																	128482402		2153	4237	6390	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2239G>A	7.37:g.128482402G>A	ENSP00000327145:p.Val747Ile	Somatic	1565	WXS	Illumina GAIIx	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V747I	ENST00000325888.8	37	c.2239	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777863	0.90195	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84800	-1.9;-1.9	5.54	5.54	0.83059	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.064936	0.64402	D	0.000012	D	0.84737	0.5538	M	0.64630	1.985	0.46774	D	0.999195	B;P	0.36144	0.157;0.539	B;B	0.34824	0.048;0.19	D	0.85389	0.1124	10	0.59425	D	0.04	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	747;747	Q14315-2;Q14315	.;FLNC_HUMAN	I	747	ENSP00000327145:V747I;ENSP00000344002:V747I	ENSP00000327145:V747I	V	+	1	0	FLNC	128269638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.976000	0.88070	2.607000	0.88179	0.650000	0.86243	GTA	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	22	0.00	0	G			128482402	128482402	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	1.000	A
FMNL3	91010	genome.wustl.edu	37	12	50042029	50042029	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:50042029T>C	ENST00000293590.5	-	22	2856	c.2623A>G	c.(2623-2625)Agt>Ggt	p.S875G	FMNL3_ENST00000335154.5_Missense_Mutation_p.S875G|FMNL3_ENST00000550488.1_Missense_Mutation_p.S875G|FMNL3_ENST00000352151.5_Missense_Mutation_p.S824G			Q8IVF7	FMNL3_HUMAN	formin-like 3	875	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCATTGGTACTGAGGAAGTTC	0.622																																						dbGAP											0													104.0	109.0	107.0					12																	50042029		2151	4245	6396	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2623A>G	12.37:g.50042029T>C	ENSP00000293590:p.Ser875Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S875G	ENST00000293590.5	37	c.2623		12	.	.	.	.	.	.	.	.	.	.	T	5.189	0.220371	0.09863	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.79	2.41	0.29592	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.247400	0.42548	N	0.000685	T	0.09774	0.0240	N	0.21282	0.65	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.17433	0.018;0.0;0.0	T	0.29792	-1.0000	10	0.27082	T	0.32	.	6.1094	0.20092	0.1445:0.0809:0.0:0.7746	.	824;875;875	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	G	875;875;824;875	ENSP00000335655:S875G;ENSP00000447479:S875G;ENSP00000344311:S824G;ENSP00000293590:S875G	ENSP00000293590:S875G	S	-	1	0	FMNL3	48328296	0.000000	0.05858	0.932000	0.37286	0.274000	0.26718	-0.653000	0.05360	0.417000	0.25871	-0.301000	0.09380	AGT	FMNL3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000161791		0.622	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		77	0.00	0	T	NM_175736		50042029	50042029	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.047	C
FNBP4	23360	genome.wustl.edu	37	11	47738894	47738894	+	3'UTR	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:47738894A>T	ENST00000263773.5	-	0	3146				AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000525123.1_5'Flank|AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4							nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTATAGTTTATTTGACAATA	0.279																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.*80T>A	11.37:g.47738894A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	RNA	SNP	-	NULL	ENST00000263773.5	37	NULL	CCDS41644.1	11																																																																																			FNBP4	-	-	ENSG00000109920		0.279	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	46	0.00	0	A			47738894	47738894	-1	no_errors	ENST00000526109	ensembl	human	known	69_37n	rna	60	15.49	11	SNP	1.000	T
FNDC1	84624	genome.wustl.edu	37	6	159653843	159653843	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:159653843G>A	ENST00000297267.9	+	11	2499	c.2299G>A	c.(2299-2301)Gtc>Atc	p.V767I	FNDC1_ENST00000340366.6_Missense_Mutation_p.V704I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	767	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCTCCTCCGTCTCTTCTCA	0.617																																						dbGAP											0													37.0	40.0	39.0					6																	159653843		2135	4241	6376	-	-	-	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2299G>A	6.37:g.159653843G>A	ENSP00000297267:p.Val767Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V767I	ENST00000297267.9	37	c.2299	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.074514|2.074514	0.36566|0.36566	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.07567	.|3.18;4.0	4.11|4.11	3.24|3.24	0.37175|0.37175	.|.	.|4.567400	.|0.00520	.|N	.|0.000196	T|T	0.01765|0.01765	0.0056|0.0056	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.15473	.|0.01;0.013	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.41822|0.41822	-0.9487|-0.9487	5|10	.|0.19147	.|T	.|0.46	0.4989|0.4989	9.0129|9.0129	0.36153|0.36153	0.1081:0.0:0.8919:0.0|0.1081:0.0:0.8919:0.0	.|.	.|704;767	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	H|I	662|767;704	.|ENSP00000297267:V767I;ENSP00000342460:V704I	.|ENSP00000297267:V767I	R|V	+|+	2|1	0|0	FNDC1|FNDC1	159573833|159573833	0.035000|0.035000	0.19736|0.19736	0.211000|0.211000	0.23655|0.23655	0.040000|0.040000	0.13550|0.13550	1.449000|1.449000	0.35123|0.35123	0.719000|0.719000	0.32188|0.32188	-0.373000|-0.373000	0.07131|0.07131	CGT|GTC	FNDC1	-	NULL	ENSG00000164694		0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	50	0.00	0	G	NM_032532		159653843	159653843	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	0.048	A
FNDC3A	22862	genome.wustl.edu	37	13	49772248	49772250	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:49772248_49772250delCTT	ENST00000492622.2	+	22	2926_2928	c.2621_2623delCTT	c.(2620-2625)ccttct>cct	p.S875del	FNDC3A_ENST00000541916.1_In_Frame_Del_p.S875del|FNDC3A_ENST00000398316.3_In_Frame_Del_p.S819del	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	875	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CATTATTCACCTTCTACATGCCT	0.438																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2621_2623delCTT	13.37:g.49772248_49772250delCTT	ENSP00000417257:p.Ser875del	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	In_Frame_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S875in_frame_del	ENST00000492622.2	37	c.2621_2623	CCDS41886.1	13																																																																																			FNDC3A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.438	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	201	0.00	0	CTT	NM_014923		49772248	49772250	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	in_frame_del	180	15.09	32	DEL	1.000:1.000:1.000	-
FOLR3	2352	genome.wustl.edu	37	11	71847032	71847033	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:71847032_71847033insT	ENST00000445078.2	+	2	99_100	c.28_29insT	c.(28-30)cttfs	p.L10fs	FOLR3_ENST00000456237.1_Frame_Shift_Ins_p.L12fs|FOLR3_ENST00000442948.2_Frame_Shift_Ins_p.L12fs			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	10					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GCAGCTGCTGCTTCTGGCTTTG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.30dupT	11.37:g.71847034_71847034dupT	ENSP00000390338:p.Leu10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQ90|Q05C14	Frame_Shift_Ins	INS	pfam_Folate_rcpt-like	p.L13fs	ENST00000445078.2	37	c.34_35		11																																																																																			FOLR3	-	NULL	ENSG00000110203		0.594	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	128	0.00	0	-	NM_000804		71847032	71847033	+1	no_errors	ENST00000456237	ensembl	human	known	69_37n	frame_shift_ins	112	18.25	25	INS	0.998:1.000	T
FPGT	8790	genome.wustl.edu	37	1	74665364	74665364	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:74665364T>C	ENST00000609362.1	+	2	136	c.99T>C	c.(97-99)cgT>cgC	p.R33R	FPGT-TNNI3K_ENST00000370893.1_Silent_p.R33R|FPGT_ENST00000482102.2_Silent_p.R55R|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000370898.3_Silent_p.R46R|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000370894.5_Silent_p.R33R|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370899.3_Silent_p.R33R|FPGT_ENST00000534056.1_Silent_p.R33R|TNNI3K_ENST00000370891.2_Silent_p.R33R|FPGT_ENST00000467578.2_Silent_p.R46R|FPGT-TNNI3K_ENST00000370895.1_Silent_p.R33R|LRRIQ3_ENST00000354431.4_5'Flank|FPGT-TNNI3K_ENST00000557284.2_Silent_p.R46R	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	33					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.R33R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTGTAGCACGTGGAGAATTCT	0.378																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											96.0	96.0	96.0					1																	74665364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.99T>C	1.37:g.74665364T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R33	ENST00000609362.1	37	c.99	CCDS663.1	1																																																																																			FPGT-TNNI3K	-	NULL	ENSG00000116783		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT-TNNI3K	HGNC	protein_coding		99	0.00	0	T			74665364	74665364	+1	no_errors	ENST00000370891	ensembl	human	known	69_37n	silent	87	19.27	21	SNP	0.995	C
FREM2	341640	genome.wustl.edu	37	13	39265314	39265314	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:39265314T>C	ENST00000280481.7	+	1	4049	c.3833T>C	c.(3832-3834)gTg>gCg	p.V1278A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1278					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACAGTTTTGTGATTAAACTA	0.433																																						dbGAP											0													188.0	184.0	185.0					13																	39265314		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3833T>C	13.37:g.39265314T>C	ENSP00000280481:p.Val1278Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.V1278A	ENST00000280481.7	37	c.3833	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	T	2.671	-0.277590	0.05679	.	.	ENSG00000150893	ENST00000280481	T	0.41758	0.99	6.01	3.48	0.39840	Cadherin (1);	0.289619	0.35970	N	0.002862	T	0.16938	0.0407	N	0.11818	0.18	0.22531	N	0.999014	B	0.02656	0.0	B	0.04013	0.001	T	0.14090	-1.0485	10	0.11794	T	0.64	.	1.4376	0.02347	0.3214:0.0893:0.13:0.4593	.	1278	Q5SZK8	FREM2_HUMAN	A	1278	ENSP00000280481:V1278A	ENSP00000280481:V1278A	V	+	2	0	FREM2	38163314	0.960000	0.32886	0.999000	0.59377	0.437000	0.31866	1.228000	0.32588	2.306000	0.77630	0.533000	0.62120	GTG	FREM2	-	superfamily_Cadherin-like	ENSG00000150893		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	255	0.00	0	T	NM_207361		39265314	39265314	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	163	32.37	78	SNP	0.859	C
FRG1B	284802	genome.wustl.edu	37	20	29631551	29631551	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:29631551C>T	ENST00000278882.3	+	7	727	c.347C>T	c.(346-348)gCt>gTt	p.A116V	FRG1B_ENST00000358464.4_Missense_Mutation_p.A116V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	116										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGATCCTGTGCTGAAAAAGAA	0.328																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.347C>T	20.37:g.29631551C>T	ENSP00000278882:p.Ala116Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	Missense_Mutation	SNP	pfam_FRG1,superfamily_Actin_cross-linking	p.A116V	ENST00000278882.3	37	c.347		20	.	.	.	.	.	.	.	.	.	.	c	11.26	1.586077	0.28268	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	2.03	0.26663	.	0.229019	0.44688	D	0.000427	T	0.37865	0.1019	.	.	.	0.35821	D	0.824583	B	0.21688	0.059	B	0.23018	0.043	T	0.46303	-0.9201	8	0.59425	D	0.04	.	4.6282	0.12488	0.0:0.8129:0.0:0.1871	.	116	Q9BZ01	FRG1B_HUMAN	V	116	.	ENSP00000278882:A116V	A	+	2	0	FRG1B	28245212	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.053000	0.57427	1.456000	0.47831	0.499000	0.49734	GCT	FRG1B	-	pfam_FRG1	ENSG00000149531		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	60	0.00	0	C	NR_003579		29631551	29631551	+1	no_errors	ENST00000278882	ensembl	human	known	69_37n	missense	49	19.67	12	SNP	1.000	T
FRG2B	441581	genome.wustl.edu	37	10	135438865	135438865	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:135438865T>C	ENST00000425520.1	-	4	627	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	FRG2B_ENST00000443774.1_Missense_Mutation_p.Q193R	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	192						nucleus (GO:0005634)		p.Q193R(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCCCACACCTGGGCTAGGTC	0.557																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											46.0	56.0	53.0					10																	135438865		2154	4272	6426	-	-	-	SO:0001583	missense	0			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.575A>G	10.37:g.135438865T>C	ENSP00000401310:p.Gln192Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSQ1	Missense_Mutation	SNP	NULL	p.Q193R	ENST00000425520.1	37	c.578	CCDS44502.1	10	.	.	.	.	.	.	.	.	.	.	.	9.144	1.014535	0.19277	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.45276	0.9;0.9	.	.	.	.	0.381249	0.19404	N	0.115109	T	0.38983	0.1061	N	0.19112	0.55	0.18873	N	0.999986	P	0.48294	0.908	P	0.61397	0.888	T	0.18713	-1.0328	8	0.38643	T	0.18	-13.7062	.	.	.	.	192	Q96QU4	FRG2B_HUMAN	R	193;192	ENSP00000408343:Q193R;ENSP00000401310:Q192R	ENSP00000401310:Q192R	Q	-	2	0	FRG2B	135288855	0.067000	0.21026	0.561000	0.28357	0.565000	0.35776	0.264000	0.18497	0.103000	0.17682	0.102000	0.15555	CAG	FRG2B	-	NULL	ENSG00000225899		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	104	0.00	0	T	NM_001080998		135438865	135438865	-1	no_errors	ENST00000443774	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	0.591	C
FRMD3	257019	genome.wustl.edu	37	9	85862948	85862948	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:85862948C>T	ENST00000304195.3	-	14	1885	c.1679G>A	c.(1678-1680)tGc>tAc	p.C560Y	FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	560						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCGGATTTCGCATAAGAAGGA	0.507																																						dbGAP											0													78.0	81.0	80.0					9																	85862948		1923	4126	6049	-	-	-	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1679G>A	9.37:g.85862948C>T	ENSP00000303508:p.Cys560Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.C560Y	ENST00000304195.3	37	c.1679	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	9.855	1.194669	0.22037	.	.	ENSG00000172159	ENST00000304195	D	0.82344	-1.6	5.42	5.42	0.78866	.	0.155915	0.64402	D	0.000019	T	0.65101	0.2659	N	0.08118	0	0.35082	D	0.763452	B	0.26002	0.139	B	0.19946	0.027	T	0.68292	-0.5447	10	0.26408	T	0.33	.	10.3795	0.44104	0.0:0.8806:0.0:0.1194	.	560	A2A2Y4	FRMD3_HUMAN	Y	560	ENSP00000303508:C560Y	ENSP00000303508:C560Y	C	-	2	0	FRMD3	85052768	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.991000	0.49409	2.550000	0.86006	0.655000	0.94253	TGC	FRMD3	-	NULL	ENSG00000172159		0.507	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	224	0.00	0	C	NM_174938		85862948	85862948	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	missense	150	38.27	93	SNP	1.000	T
FRMPD2	143162	genome.wustl.edu	37	10	49383976	49383976	+	Missense_Mutation	SNP	T	T	C	rs200957845		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:49383976T>C	ENST00000374201.3	-	23	3204	c.2902A>G	c.(2902-2904)Att>Gtt	p.I968V	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_5'UTR|FRMPD2_ENST00000407470.4_Missense_Mutation_p.I936V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.I943V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	968	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGTTAATGCCACCCTGA	0.532																																						dbGAP											0													3.0	1.0	1.0					10																	49383976		81	163	244	-	-	-	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2902A>G	10.37:g.49383976T>C	ENSP00000363317:p.Ile968Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.I968V	ENST00000374201.3	37	c.2902	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.452426	0.01080	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.26810	1.71;1.71;1.71	4.81	-0.335	0.12662	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.10723	0.0262	N	0.03891	-0.335	0.09310	N	1	B;B;B	0.18863	0.006;0.031;0.016	B;B;B	0.23419	0.016;0.046;0.024	T	0.39165	-0.9627	9	0.21540	T	0.41	.	9.0019	0.36088	0.0:0.3679:0.0:0.6321	.	943;968;936	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	968;943;936	ENSP00000363317:I968V;ENSP00000307079:I943V;ENSP00000384339:I936V	ENSP00000307079:I943V	I	-	1	0	FRMPD2	49053982	0.623000	0.27094	0.520000	0.27837	0.722000	0.41435	0.524000	0.22940	-0.339000	0.08401	0.528000	0.53228	ATT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000170324		0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	18	0.00	0	T	NM_152428		49383976	49383976	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.060	C
FRMPD4	9758	genome.wustl.edu	37	X	12627960	12627960	+	Silent	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:12627960A>C	ENST00000380682.1	+	3	785	c.279A>C	c.(277-279)gcA>gcC	p.A93A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	93	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTTTTGTGGCAGGCAGTGAAA	0.542																																						dbGAP											0													127.0	115.0	119.0					X																	12627960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.279A>C	X.37:g.12627960A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A93	ENST00000380682.1	37	c.279	CCDS35201.1	X																																																																																			FRMPD4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000169933		0.542	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	85	0.00	0	A	XM_045712		12627960	12627960	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	silent	75	14.61	13	SNP	0.884	C
FRMPD4	9758	genome.wustl.edu	37	X	12736312	12736312	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:12736312G>A	ENST00000380682.1	+	16	3873	c.3367G>A	c.(3367-3369)Gca>Aca	p.A1123T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1123					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGTCTTGGGGCAAGGGAGGC	0.522																																						dbGAP											0													152.0	154.0	153.0					X																	12736312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3367G>A	X.37:g.12736312G>A	ENSP00000370057:p.Ala1123Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A1123T	ENST00000380682.1	37	c.3367	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303856	0.01353	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05447	3.44	5.28	-7.89	0.01174	.	1.134670	0.06542	N	0.743280	T	0.01940	0.0061	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48670	-0.9015	10	0.13108	T	0.6	1.5682	8.3149	0.32093	0.3504:0.4254:0.2242:0.0	.	1115;1123	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	1123;1114;1112	ENSP00000370057:A1123T	ENSP00000304583:A1112T	A	+	1	0	FRMPD4	12646233	0.006000	0.16342	0.000000	0.03702	0.700000	0.40528	0.027000	0.13621	-1.919000	0.01071	-0.253000	0.11424	GCA	FRMPD4	-	NULL	ENSG00000169933		0.522	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	260	0.00	0	G	XM_045712		12736312	12736312	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	241	10.41	28	SNP	0.069	A
FRMPD3	84443	genome.wustl.edu	37	X	106845002	106845002	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:106845002T>C	ENST00000276185.4	+	16	3832	c.3832T>C	c.(3832-3834)Tat>Cat	p.Y1278H				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1278						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGTAAAGCAGTATGAACTGGA	0.572																																						dbGAP											0													57.0	56.0	56.0					X																	106845002		876	1991	2867	-	-	-	SO:0001583	missense	0			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3832T>C	X.37:g.106845002T>C	ENSP00000276185:p.Tyr1278His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.Y1278H	ENST00000276185.4	37	c.3832		X	.	.	.	.	.	.	.	.	.	.	T	16.17	3.048799	0.55110	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.37411	1.2;1.22	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000012	T	0.30262	0.0759	L	0.27053	0.805	0.28571	N	0.910613	.	.	.	.	.	.	T	0.16541	-1.0399	8	0.34782	T	0.22	.	11.3822	0.49763	0.0:0.0:0.0:1.0	.	.	.	.	H	1278;1226	ENSP00000276185:Y1278H;ENSP00000398668:Y1226H	ENSP00000276185:Y1278H	Y	+	1	0	FRMPD3	106731658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.655000	0.61476	1.467000	0.48044	0.352000	0.21897	TAT	FRMPD3	-	NULL	ENSG00000147234		0.572	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		77	0.00	0	T	XM_042978		106845002	106845002	+1	no_errors	ENST00000276185	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	C
CMTR1	23070	genome.wustl.edu	37	6	37427435	37427435	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:37427435G>A	ENST00000373451.4	+	10	1234	c.1070G>A	c.(1069-1071)gGt>gAt	p.G357D	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	357	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										GATCGCAAGGGTGTCCATTTT	0.423																																						dbGAP											0													310.0	293.0	299.0					6																	37427435		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1070G>A	6.37:g.37427435G>A	ENSP00000362550:p.Gly357Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom	p.G357D	ENST00000373451.4	37	c.1070	CCDS4835.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.374308	0.95923	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.42900	0.96;0.96	6.17	6.17	0.99709	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73933	-0.3826	10	0.51188	T	0.08	-19.9407	19.8676	0.96824	0.0:0.0:1.0:0.0	.	301;357	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	D	357;301;301	ENSP00000362550:G357D;ENSP00000414233:G301D	ENSP00000362526:G301D	G	+	2	0	FTSJD2	37535413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGT	FTSJD2	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000137200		0.423	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD2	HGNC	protein_coding	OTTHUMT00000040408.1	599	0.00	0	G	NM_015050		37427435	37427435	+1	no_errors	ENST00000373451	ensembl	human	known	69_37n	missense	544	19.14	129	SNP	1.000	A
FUNDC2P2	388965	genome.wustl.edu	37	2	84517893	84517893	+	RNA	SNP	G	G	A	rs576725430		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:84517893G>A	ENST00000331369.5	+	0	87									FUN14 domain containing 2 pseudogene 2																		ACTCCGCAGCGTAACCTCGCA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17473	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517893G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000331369.5	37	NULL		2																																																																																			FUNDC2P2	-	-	ENSG00000182814		0.632	FUNDC2P2-001	KNOWN	basic	processed_transcript	FUNDC2P2	HGNC	pseudogene	OTTHUMT00000333681.1	43	0.00	0	G	NR_003663		84517893	84517893	+1	no_errors	ENST00000331369	ensembl	human	known	69_37n	rna	24	46.67	21	SNP	0.001	A
FYCO1	79443	genome.wustl.edu	37	3	45972655	45972655	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:45972655T>C	ENST00000296137.2	-	16	4364	c.4159A>G	c.(4159-4161)Acc>Gcc	p.T1387A	FYCO1_ENST00000535325.1_Missense_Mutation_p.T1407A|FYCO1_ENST00000438446.1_Missense_Mutation_p.T58A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1387	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGCTGATGGTGAGGCCTGCC	0.592																																						dbGAP											0													90.0	80.0	84.0					3																	45972655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.4159A>G	3.37:g.45972655T>C	ENSP00000296137:p.Thr1387Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.T1407A	ENST00000296137.2	37	c.4219	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112027	0.77210	.	.	ENSG00000163820	ENST00000296137;ENST00000438446;ENST00000535325	T;T;T	0.41758	0.99;0.99;0.99	5.1	5.1	0.69264	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.35723	1.085	0.41861	D	0.990223	D;D	0.76494	0.999;0.996	D;P	0.78314	0.991;0.872	T	0.57843	-0.7741	10	0.72032	D	0.01	-31.9052	13.4588	0.61214	0.0:0.0:0.0:1.0	.	1407;1387	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	A	1387;58;1407	ENSP00000296137:T1387A;ENSP00000398517:T58A;ENSP00000441178:T1407A	ENSP00000296137:T1387A	T	-	1	0	FYCO1	45947659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.652000	0.67959	1.928000	0.55862	0.533000	0.62120	ACC	FYCO1	-	superfamily_GOLD,pfscan_GOLD	ENSG00000163820		0.592	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	67	0.00	0	T	NM_024513		45972655	45972655	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	C
GABRG3	2567	genome.wustl.edu	37	15	27777921	27777921	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:27777921G>A	ENST00000333743.6	+	10	1552	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	433					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAAAGGGCGTATTCACATA	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	dbGAP											0													89.0	93.0	92.0					15																	27777921		1976	4143	6119	-	-	-	SO:0001583	missense	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1298G>A	15.37:g.27777921G>A	ENSP00000331912:p.Arg433His	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R433H	ENST00000333743.6	37	c.1298	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704822	0.68615	.	.	ENSG00000182256	ENST00000333743	D	0.84873	-1.91	5.85	4.94	0.65067	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.253640	0.38217	N	0.001773	D	0.88955	0.6578	L	0.49571	1.57	0.80722	D	1	D	0.61080	0.989	P	0.62885	0.908	D	0.89724	0.3921	10	0.66056	D	0.02	.	14.0903	0.64984	0.0719:0.0:0.9281:0.0	.	433	Q99928	GBRG3_HUMAN	H	433	ENSP00000331912:R433H	ENSP00000331912:R433H	R	+	2	0	GABRG3	25451516	1.000000	0.71417	0.111000	0.21465	0.314000	0.28054	7.582000	0.82546	1.489000	0.48450	0.650000	0.86243	CGT	GABRG3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000182256		0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	55	0.00	0	G			27777921	27777921	+1	no_errors	ENST00000333743	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	0.956	A
GAL3ST1	9514	genome.wustl.edu	37	22	30951959	30951959	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:30951959T>C	ENST00000402321.1	-	3	570	c.253A>G	c.(253-255)Aag>Gag	p.K85E	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.K85E|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.K85E|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.K85E|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.K85E|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.K85E|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.K85E			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	85					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CTGGCCGTCTTGTGCGTCTTC	0.637																																						dbGAP											0													81.0	72.0	75.0					22																	30951959		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.253A>G	22.37:g.30951959T>C	ENSP00000385735:p.Lys85Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.K85E	ENST00000402321.1	37	c.253	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173837	0.57692	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.68428	-0.5411	10	0.87932	D	0	-9.8781	14.6061	0.68481	0.0:0.0:0.0:1.0	.	85	Q99999	G3ST1_HUMAN	E	85;85;85;85;85;85;85;85;86;85;85;85;86;85;85;86;85;85;85;85;85	ENSP00000385825:K85E;ENSP00000385735:K85E;ENSP00000384122:K85E;ENSP00000384388:K85E;ENSP00000343234:K85E;ENSP00000385207:K85E;ENSP00000402587:K85E;ENSP00000390545:K85E;ENSP00000395080:K86E;ENSP00000405017:K85E;ENSP00000401426:K85E;ENSP00000391485:K85E;ENSP00000397092:K86E;ENSP00000391996:K85E;ENSP00000405381:K85E;ENSP00000401074:K86E;ENSP00000389876:K85E;ENSP00000398380:K85E;ENSP00000414542:K85E;ENSP00000412995:K85E;ENSP00000394912:K85E	ENSP00000343234:K85E	K	-	1	0	GAL3ST1	29281959	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.951000	0.87819	1.953000	0.56701	0.482000	0.46254	AAG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.637	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	23	0.00	0	T	NM_004861		30951959	30951959	-1	no_errors	ENST00000338911	ensembl	human	known	69_37n	missense	11	50.00	11	SNP	1.000	C
GALNT7	51809	genome.wustl.edu	37	4	174225221	174225221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:174225221G>A	ENST00000265000.4	+	8	1424	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	447					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTGAGGGCTGGCAAGGAAATC	0.428																																						dbGAP											0													159.0	141.0	147.0					4																	174225221		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1341G>A	4.37:g.174225221G>A	ENSP00000265000:p.Trp447*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQU3|Q7Z5W7|Q9UJ28	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W447*	ENST00000265000.4	37	c.1341	CCDS3815.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	41|41|41	8.543252|8.543252|8.543252	0.98857|0.98857|0.98857	.|.|.	.|.|.	ENSG00000109586|ENSG00000109586|ENSG00000109586	ENST00000503213|ENST00000505308;ENST00000458613|ENST00000265000	.|.|.	.|.|.	.|.|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|.|0.055496	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.78175|0.78175|.	0.4242|0.4242|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.78214|0.78214|.	-0.2291|-0.2291|.	4|5|.	.|0.56958|0.54805	.|D|T	.|0.05|0.06	.|.|.	19.9439|19.9439|19.9439	0.97175|0.97175|0.97175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	T|D|X	18|244;224|447	.|.|.	.|ENSP00000394985:G224D|ENSP00000265000:W447X	A|G|W	+|+|+	1|2|3	0|0|0	GALNT7|GALNT7|GALNT7	174461796|174461796|174461796	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	9.209000|9.209000|9.209000	0.95087|0.95087|0.95087	2.706000|2.706000|2.706000	0.92434|0.92434|0.92434	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|GGC|TGG	GALNT7	-	NULL	ENSG00000109586		0.428	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	139	0.00	0	G	NM_017423		174225221	174225221	+1	no_errors	ENST00000265000	ensembl	human	known	69_37n	nonsense	130	12.16	18	SNP	1.000	A
GAS2L3	283431	genome.wustl.edu	37	12	101012337	101012337	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:101012337G>A	ENST00000539410.1	+	7	1006	c.620G>A	c.(619-621)tGc>tAc	p.C207Y	GAS2L3_ENST00000537247.1_Missense_Mutation_p.C103Y|GAS2L3_ENST00000266754.5_Missense_Mutation_p.C207Y|GAS2L3_ENST00000547754.1_Missense_Mutation_p.C207Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	207					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAAATCATGCTGTCGGCAT	0.403																																						dbGAP											0													121.0	119.0	120.0					12																	101012337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.620G>A	12.37:g.101012337G>A	ENSP00000439672:p.Cys207Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.C207Y	ENST00000539410.1	37	c.620	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019090	0.75275	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.25414	1.8;1.8;1.81;1.8	5.27	5.27	0.74061	Growth-arrest-specific protein 2 domain (1);Calponin homology domain (1);	0.268792	0.43579	D	0.000559	T	0.46483	0.1395	M	0.68317	2.08	0.53005	D	0.99996	D	0.64830	0.994	D	0.63957	0.92	T	0.22941	-1.0202	10	0.13108	T	0.6	-8.3556	19.2547	0.93941	0.0:0.0:1.0:0.0	.	207	Q86XJ1	GA2L3_HUMAN	Y	207;207;103;207	ENSP00000266754:C207Y;ENSP00000448955:C207Y;ENSP00000442406:C103Y;ENSP00000439672:C207Y	ENSP00000266754:C207Y	C	+	2	0	GAS2L3	99536468	1.000000	0.71417	0.997000	0.53966	0.831000	0.47069	6.488000	0.73637	2.616000	0.88540	0.484000	0.47621	TGC	GAS2L3	-	superfamily_CH-domain	ENSG00000139354		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	92	0.00	0	G	NM_174942		101012337	101012337	+1	no_errors	ENST00000266754	ensembl	human	known	69_37n	missense	90	16.67	18	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	95	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	84	18.45	19	INS	0.903:0.359	G
GBP7	388646	genome.wustl.edu	37	1	89613267	89613267	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:89613267G>A	ENST00000294671.2	-	8	1486	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	450						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCTTTTCTGGGCACTAGTGTA	0.428																																						dbGAP											0													161.0	164.0	163.0					1																	89613267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1348C>T	1.37:g.89613267G>A	ENSP00000294671:p.Pro450Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.P450S	ENST00000294671.2	37	c.1348	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690275	0.48097	.	.	ENSG00000213512	ENST00000294671	T	0.76968	-1.06	3.95	3.95	0.45737	Guanylate-binding protein, C-terminal (3);	0.151403	0.44688	D	0.000421	T	0.77498	0.4139	M	0.93720	3.45	0.20926	N	0.99982	P	0.41910	0.764	P	0.44561	0.453	T	0.74237	-0.3730	10	0.72032	D	0.01	.	8.8651	0.35280	0.0:0.0:0.7765:0.2235	.	450	Q8N8V2	GBP7_HUMAN	S	450	ENSP00000294671:P450S	ENSP00000294671:P450S	P	-	1	0	GBP7	89385855	0.998000	0.40836	0.971000	0.41717	0.025000	0.11179	3.126000	0.50477	2.047000	0.60756	0.591000	0.81541	CCC	GBP7	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000213512		0.428	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	312	0.00	0	G	NM_207398		89613267	89613267	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	209	24.37	68	SNP	0.108	A
PAXBP1	94104	genome.wustl.edu	37	21	34120848	34120848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:34120848delG	ENST00000331923.4	-	11	2074	c.1885delC	c.(1885-1887)ctcfs	p.L629fs	PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.L629fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	629					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTCGTATGAGGGGGTTGAAT	0.383																																						dbGAP											0													94.0	91.0	92.0					21																	34120848		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1885delC	21.37:g.34120848delG	ENSP00000328992:p.Leu629fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Del	DEL	pfam_GCFC_dom	p.L629fs	ENST00000331923.4	37	c.1885	CCDS13619.1	21																																																																																			GCFC1	-	pfam_GCFC_dom	ENSG00000159086		0.383	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC1	HGNC	protein_coding	OTTHUMT00000139563.1	168	0.00	0	G	NM_013329		34120848	34120848	-1	no_errors	ENST00000331923	ensembl	human	known	69_37n	frame_shift_del	169	12.89	25	DEL	1.000	-
GCN1L1	10985	genome.wustl.edu	37	12	120575568	120575568	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:120575568C>T	ENST00000300648.6	-	49	6456	c.6444G>A	c.(6442-6444)ggG>ggA	p.G2148G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2148					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGATCCGGTGCCCTGTGTCAT	0.582																																						dbGAP											0													41.0	49.0	46.0					12																	120575568		2131	4219	6350	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6444G>A	12.37:g.120575568C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G2148	ENST00000300648.6	37	c.6444	CCDS41847.1	12																																																																																			GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	68	0.00	0	C			120575568	120575568	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	1.000	T
GEMIN4	50628	genome.wustl.edu	37	17	650385	650385	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:650385C>T	ENST00000319004.5	-	2	1016	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000576778.1_Missense_Mutation_p.V289I	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	300					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGGCTGACATCCCGTTCT	0.617																																						dbGAP											0													131.0	145.0	140.0					17																	650385		2148	4241	6389	-	-	-	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.898G>A	17.37:g.650385C>T	ENSP00000321706:p.Val300Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.V300I	ENST00000319004.5	37	c.898	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543204	0.27563	.	.	ENSG00000179409	ENST00000319004	T	0.15603	2.41	5.63	1.38	0.22167	.	0.461476	0.22625	N	0.057656	T	0.08582	0.0213	N	0.17474	0.49	0.23607	N	0.997308	B	0.14805	0.011	B	0.14023	0.01	T	0.28364	-1.0046	10	0.33940	T	0.23	-10.5464	5.2835	0.15688	0.0:0.3853:0.2331:0.3817	.	300	P57678	GEMI4_HUMAN	I	300	ENSP00000321706:V300I	ENSP00000321706:V300I	V	-	1	0	GEMIN4	597135	0.000000	0.05858	0.895000	0.35142	0.986000	0.74619	-0.711000	0.05019	0.044000	0.15775	0.563000	0.77884	GTC	GEMIN4	-	NULL	ENSG00000179409		0.617	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	53	0.00	0	C	NM_015721		650385	650385	-1	no_errors	ENST00000319004	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.035	T
GFRA2	2675	genome.wustl.edu	37	8	21608335	21608335	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:21608335G>A	ENST00000524240.1	-	4	1209	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	GFRA2_ENST00000517328.1_Missense_Mutation_p.R187C|GFRA2_ENST00000518077.1_Missense_Mutation_p.R54C|GFRA2_ENST00000400782.4_Missense_Mutation_p.R82C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	187					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGATCTCGCGGTTGCAGATG	0.617																																						dbGAP											0													48.0	57.0	54.0					8																	21608335		2197	4294	6491	-	-	-	SO:0001583	missense	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.559C>T	8.37:g.21608335G>A	ENSP00000428518:p.Arg187Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.R187C	ENST00000524240.1	37	c.559	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379802	0.61845	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	4.76	3.82	0.43975	GDNF/GAS1 (2);	0.181558	0.43110	D	0.000601	T	0.68742	0.3034	L	0.48642	1.525	0.46149	D	0.998899	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62184	0.899;0.877;0.867	T	0.70799	-0.4774	10	0.56958	D	0.05	-14.4846	12.1278	0.53926	0.0:0.0:0.7408:0.2592	.	54;82;187	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	C	187;82;187;54;82;187;179	ENSP00000428518:R187C;ENSP00000383592:R82C;ENSP00000429445:R187C;ENSP00000429206:R54C;ENSP00000429979:R82C;ENSP00000428721:R187C	ENSP00000383592:R82C	R	-	1	0	GFRA2	21652615	0.988000	0.35896	0.994000	0.49952	0.851000	0.48451	2.042000	0.41222	2.197000	0.70478	0.313000	0.20887	CGC	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2	ENSG00000168546		0.617	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	30	0.00	0	G	NM_001495		21608335	21608335	-1	no_errors	ENST00000517328	ensembl	human	known	69_37n	missense	12	64.71	22	SNP	0.941	A
GIMAP2	26157	genome.wustl.edu	37	7	150390100	150390100	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:150390100C>T	ENST00000223293.5	+	3	820	c.726C>T	c.(724-726)agC>agT	p.S242S		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	242						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAACAGAGCCTTATAAAGT	0.383																																						dbGAP											0													100.0	101.0	100.0					7																	150390100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.726C>T	7.37:g.150390100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96L25	Silent	SNP	pfam_AIG1	p.S242	ENST00000223293.5	37	c.726	CCDS5905.1	7																																																																																			GIMAP2	-	NULL	ENSG00000106560		0.383	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	199	0.00	0	C	NM_015660		150390100	150390100	+1	no_errors	ENST00000223293	ensembl	human	known	69_37n	silent	175	20.81	46	SNP	0.000	T
GIMAP5	55340	genome.wustl.edu	37	7	150439805	150439805	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:150439805T>C	ENST00000358647.3	+	3	945	c.578T>C	c.(577-579)gTg>gCg	p.V193A	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	193	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGGCTCTGTGGAGGAGCAG	0.577																																						dbGAP											0													72.0	71.0	71.0					7																	150439805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.578T>C	7.37:g.150439805T>C	ENSP00000351473:p.Val193Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	pfam_AIG1	p.V193A	ENST00000358647.3	37	c.578	CCDS5907.1	7	.	.	.	.	.	.	.	.	.	.	T	3.378	-0.126995	0.06795	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05139	3.49	4.15	1.26	0.21427	AIG1 (1);	0.579442	0.18393	N	0.142582	T	0.01940	0.0061	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42413	-0.9453	10	0.48119	T	0.1	.	3.9012	0.09162	0.2117:0.0:0.598:0.1903	.	193	Q96F15	GIMA5_HUMAN	A	193;229	ENSP00000351473:V193A	ENSP00000351473:V193A	V	+	2	0	GIMAP5	150070738	0.008000	0.16893	0.001000	0.08648	0.000000	0.00434	0.596000	0.24044	0.409000	0.25649	-0.795000	0.03280	GTG	GIMAP5	-	pfam_AIG1	ENSG00000196329		0.577	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP5	HGNC	protein_coding	OTTHUMT00000349108.2	207	0.00	0	T	NM_018384		150439805	150439805	+1	no_errors	ENST00000358647	ensembl	human	known	69_37n	missense	167	13.33	26	SNP	0.001	C
GJA4	2701	genome.wustl.edu	37	1	35260297	35260297	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:35260297C>T	ENST00000342280.4	+	2	571	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	161					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGTGCTCTGCAAGAGTGTGC	0.632																																						dbGAP											0													47.0	45.0	46.0					1																	35260297		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.483C>T	1.37:g.35260297C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37	p.C161	ENST00000342280.4	37	c.483	CCDS30669.1	1																																																																																			GJA4	-	prints_Connexin,prints_Connexin37	ENSG00000187513		0.632	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	HGNC	protein_coding	OTTHUMT00000011556.1	53	0.00	0	C	NM_002060		35260297	35260297	+1	no_errors	ENST00000342280	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	1.000	T
GJA5	2702	genome.wustl.edu	37	1	147230617	147230617	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:147230617G>A	ENST00000271348.2	-	2	891	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.H244Y	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	244					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTAGCCATGTGCTGCCGCGGT	0.587																																						dbGAP											0													58.0	62.0	60.0					1																	147230617		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.730C>T	1.37:g.147230617G>A	ENSP00000271348:p.His244Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.H244Y	ENST00000271348.2	37	c.730	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	G	4.210	0.037832	0.08148	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97529	-4.38;-4.38;-4.42	5.68	1.55	0.23275	.	4.232850	0.00604	N	0.000382	D	0.88115	0.6350	N	0.22421	0.69	0.09310	N	1	B	0.28552	0.215	B	0.27380	0.079	D	0.83437	0.0041	10	0.62326	D	0.03	.	5.4327	0.16463	0.0:0.4517:0.2684:0.2799	.	244	P36382	CXA5_HUMAN	Y	244	ENSP00000271348:H244Y;ENSP00000358240:H244Y;ENSP00000407645:H244Y	ENSP00000271348:H244Y	H	-	1	0	GJA5	145697241	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.209000	0.09358	0.031000	0.15407	-0.256000	0.11100	CAC	GJA5	-	NULL	ENSG00000143140		0.587	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	115	0.00	0	G	NM_181703		147230617	147230617	-1	no_errors	ENST00000271348	ensembl	human	known	69_37n	missense	111	12.60	16	SNP	0.003	A
GKN2	200504	genome.wustl.edu	37	2	69174335	69174335	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:69174335C>G	ENST00000328895.4	-	4	367	c.259G>C	c.(259-261)Gac>Cac	p.D87H	GKN2_ENST00000481498.1_Missense_Mutation_p.D87H	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	87	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TTCTGATGGTCCATCTTCAGG	0.483																																						dbGAP											0													198.0	181.0	187.0					2																	69174335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.259G>C	2.37:g.69174335C>G	ENSP00000329292:p.Asp87His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWS6	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.D87H	ENST00000328895.4	37	c.259	CCDS33215.1	2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405697	0.42715	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.80566	-1.39;-1.39	5.3	-0.73	0.11154	BRICHOS (2);	0.437004	0.22572	N	0.058324	D	0.85353	0.5677	M	0.72894	2.215	0.36923	D	0.891475	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	D	0.85365	0.1110	10	0.66056	D	0.02	-9.2078	9.872	0.41180	0.0:0.6875:0.0:0.3125	.	87;87	E5RHQ8;Q86XP6	.;GKN2_HUMAN	H	87	ENSP00000329292:D87H;ENSP00000428538:D87H	ENSP00000329292:D87H	D	-	1	0	GKN2	69027839	0.523000	0.26274	0.996000	0.52242	0.408000	0.30992	-0.945000	0.03909	-0.033000	0.13736	-0.345000	0.07892	GAC	GKN2	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000183607		0.483	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKN2	HGNC	protein_coding	OTTHUMT00000327191.1	126	0.00	0	C	NM_182536		69174335	69174335	-1	no_errors	ENST00000328895	ensembl	human	known	69_37n	missense	144	19.10	34	SNP	0.995	G
GLCE	26035	genome.wustl.edu	37	15	69548655	69548655	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:69548655C>T	ENST00000261858.2	+	3	738	c.510C>T	c.(508-510)ccC>ccT	p.P170P	GLCE_ENST00000559420.2_Silent_p.P106P	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	170					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CCTATCACCCCGATGGTGTGT	0.443																																						dbGAP											0													150.0	149.0	149.0					15																	69548655		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.510C>T	15.37:g.69548655C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GUQ2	Silent	SNP	pfam_C5-epim	p.P170	ENST00000261858.2	37	c.510	CCDS32277.1	15																																																																																			GLCE	-	NULL	ENSG00000138604		0.443	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		484	0.00	0	C	NM_015554		69548655	69548655	+1	no_errors	ENST00000261858	ensembl	human	known	69_37n	silent	386	24.61	126	SNP	0.737	T
GLS	2744	genome.wustl.edu	37	2	191795242	191795244	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:191795242_191795244delCTC	ENST00000320717.3	+	13	1763_1765	c.1505_1507delCTC	c.(1504-1509)tctcct>tct	p.P504del	GLS_ENST00000409626.1_In_Frame_Del_p.P75del|GLS_ENST00000409215.1_In_Frame_Del_p.P9del|GLS_ENST00000409428.1_In_Frame_Del_p.P9del|GLS_ENST00000338435.4_In_Frame_Del_p.P504del	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	504					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ATGTGCTGGTCTCCTCCTCTGGA	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1505_1507delCTC	2.37:g.191795248_191795250delCTC	ENSP00000317379:p.Pro504del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL05|Q9UL06|Q9UL07|Q9UN40	In_Frame_Del	DEL	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.P504in_frame_del	ENST00000320717.3	37	c.1505_1507	CCDS2308.1	2																																																																																			GLS	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase	ENSG00000115419		0.399	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	72	0.00	0	CTC			191795242	191795244	+1	no_errors	ENST00000320717	ensembl	human	known	69_37n	in_frame_del	59	14.49	10	DEL	1.000:0.864:1.000	-
GMCL1	64395	genome.wustl.edu	37	2	70068153	70068153	+	Silent	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:70068153A>C	ENST00000282570.3	+	4	812	c.561A>C	c.(559-561)gcA>gcC	p.A187A		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	187					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TTTTGGCAGCAGCTTGTTTGC	0.403																																						dbGAP											0													141.0	117.0	125.0					2																	70068153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.561A>C	2.37:g.70068153A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H826|Q9H8V7|Q9H927	Silent	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.A187	ENST00000282570.3	37	c.561	CCDS1895.1	2																																																																																			GMCL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000087338		0.403	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMCL1	HGNC	protein_coding	OTTHUMT00000251841.2	29	0.00	0	A	NM_178439		70068153	70068153	+1	no_errors	ENST00000282570	ensembl	human	known	69_37n	silent	45	23.73	14	SNP	1.000	C
GOLGA2P5	55592	genome.wustl.edu	37	12	100562905	100562905	+	RNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:100562905C>T	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CATTTCCAAGCCCATGGTCTC	0.413																																						dbGAP											0																																										-	-	-			0																															12.37:g.100562905C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2P5	-	-	ENSG00000238105		0.413	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	HGNC	pseudogene	OTTHUMT00000396439.2	21	0.00	0	C			100562905	100562905	-1	no_errors	ENST00000421840	ensembl	human	known	69_37n	rna	19	20.83	5	SNP	0.000	T
GPATCH3	63906	genome.wustl.edu	37	1	27217538	27217538	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:27217538G>T	ENST00000361720.5	-	7	1564	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	GPN2_ENST00000374135.4_5'Flank|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	514							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AGCACAACTGGAACCCCTCAC	0.567																																						dbGAP											0													66.0	53.0	58.0					1																	27217538		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1541C>A	1.37:g.27217538G>T	ENSP00000354645:p.Ser514Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.S514Y	ENST00000361720.5	37	c.1541	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670402	0.67814	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.34072	1.38	4.91	4.91	0.64330	.	0.229512	0.31113	N	0.008237	T	0.49372	0.1553	L	0.50333	1.59	0.41530	D	0.988458	D	0.58970	0.984	P	0.57371	0.819	T	0.52064	-0.8625	10	0.87932	D	0	-21.4248	15.4121	0.74933	0.0:0.0:1.0:0.0	.	514	Q96I76	GPTC3_HUMAN	Y	514;496	ENSP00000354645:S514Y	ENSP00000354645:S514Y	S	-	2	0	GPATCH3	27090125	0.990000	0.36364	0.995000	0.50966	0.887000	0.51463	4.207000	0.58480	2.543000	0.85770	0.655000	0.94253	TCC	GPATCH3	-	NULL	ENSG00000198746		0.567	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	45	0.00	0	G	NM_022078		27217538	27217538	-1	no_errors	ENST00000361720	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.943	T
GPATCH2	55105	genome.wustl.edu	37	1	217793585	217793585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:217793585C>A	ENST00000366935.3	-	2	423	c.313G>T	c.(313-315)Gag>Tag	p.E105*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.E105*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	105					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTGTGATTCTCTCTATAGTCC	0.403																																						dbGAP											0													69.0	66.0	67.0					1																	217793585		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.313G>T	1.37:g.217793585C>A	ENSP00000355902:p.Glu105*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Nonsense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E105*	ENST00000366935.3	37	c.313	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.954839	0.97139	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	.	.	.	5.69	5.69	0.88448	.	0.200716	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-4.0396	19.8124	0.96553	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000355901:E105X	E	-	1	0	GPATCH2	215860208	1.000000	0.71417	0.944000	0.38274	0.993000	0.82548	4.407000	0.59754	2.671000	0.90904	0.591000	0.81541	GAG	GPATCH2	-	NULL	ENSG00000092978		0.403	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	145	0.00	0	C	NM_018040		217793585	217793585	-1	no_errors	ENST00000366935	ensembl	human	known	69_37n	nonsense	169	15.50	31	SNP	1.000	A
GPR125	166647	genome.wustl.edu	37	4	22446677	22446677	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:22446677C>T	ENST00000334304.5	-	6	894	c.625G>A	c.(625-627)Gta>Ata	p.V209I	GPR125_ENST00000508133.1_5'Flank|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.V209I	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	209	LRRCT.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTATCCCGTACCGTGATGTTC	0.473																																						dbGAP											0													154.0	129.0	137.0					4																	22446677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.625G>A	4.37:g.22446677C>T	ENSP00000334952:p.Val209Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.V209I	ENST00000334304.5	37	c.625	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076430	0.55753	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90133	-2.62;-2.62	5.83	5.83	0.93111	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	L	0.39326	1.205	0.80722	D	1	B;B;P	0.37612	0.14;0.067;0.602	B;B;B	0.41466	0.076;0.051;0.358	D	0.85078	0.0944	10	0.15499	T	0.54	-10.3885	20.114	0.97919	0.0:1.0:0.0:0.0	.	84;209;209	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	I	209	ENSP00000334952:V209I;ENSP00000421006:V209I	ENSP00000334952:V209I	V	-	1	0	GPR125	22055775	1.000000	0.71417	0.149000	0.22428	0.531000	0.34715	5.645000	0.67909	2.763000	0.94921	0.585000	0.79938	GTA	GPR125	-	smart_Cys-rich_flank_reg_C	ENSG00000152990		0.473	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	88	0.00	0	C			22446677	22446677	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	68	26.09	24	SNP	0.997	T
GPR126	57211	genome.wustl.edu	37	6	142691311	142691311	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:142691311C>T	ENST00000230173.6	+	4	926	c.450C>T	c.(448-450)gcC>gcT	p.A150A	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Silent_p.A150A|GPR126_ENST00000296932.8_Silent_p.A150A|GPR126_ENST00000367609.3_Silent_p.A150A	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	150	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCTAGTTGCCGTGTCCTTAA	0.403																																						dbGAP											0													109.0	96.0	100.0					6																	142691311		1897	4119	6016	-	-	-	SO:0001819	synonymous_variant	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.450C>T	6.37:g.142691311C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A150	ENST00000230173.6	37	c.450	CCDS47490.1	6																																																																																			GPR126	-	superfamily_CUB,smart_Pentaxin	ENSG00000112414		0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	92	0.00	0	C			142691311	142691311	+1	no_errors	ENST00000367609	ensembl	human	known	69_37n	silent	91	20.87	24	SNP	0.574	T
GPR148	344561	genome.wustl.edu	37	2	131486765	131486766	+	Frame_Shift_Ins	INS	-	-	T	rs80008074	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:131486765_131486766insT	ENST00000309926.4	+	1	123_124	c.41_42insT	c.(40-45)gcttggfs	p.W15fs		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCACTACAGCTTGGCCGGCCC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.43dupT	2.37:g.131486767_131486767dupT	ENSP00000308908:p.Trp15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M369|Q86SP7|Q86U87	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.W15fs	ENST00000309926.4	37	c.41_42	CCDS2163.1	2																																																																																			GPR148	-	NULL	ENSG00000173302		0.614	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR148	HGNC	protein_coding	OTTHUMT00000254552.3	99	0.00	0	-	XM_293092		131486765	131486766	+1	no_errors	ENST00000309926	ensembl	human	known	69_37n	frame_shift_ins	50	34.21	26	INS	0.007:0.010	T
GPR155	151556	genome.wustl.edu	37	2	175330598	175330599	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:175330598_175330599insT	ENST00000392552.2	-	7	1536_1537	c.1298_1299insA	c.(1297-1299)aatfs	p.N433fs	GPR155_ENST00000392551.2_Frame_Shift_Ins_p.N433fs|GPR155_ENST00000295500.4_Frame_Shift_Ins_p.N433fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	433					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTTTAACAAAATTCCATATCAT	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1299dupA	2.37:g.175330600_175330600dupT	ENSP00000376335:p.Asn433fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Frame_Shift_Ins	INS	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.N433fs	ENST00000392552.2	37	c.1299_1298	CCDS2259.1	2																																																																																			GPR155	-	NULL	ENSG00000163328		0.322	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	77	0.00	0	-	NM_152529		175330598	175330599	-1	no_errors	ENST00000295500	ensembl	human	known	69_37n	frame_shift_ins	37	35.09	20	INS	1.000:1.000	T
GPR19	2842	genome.wustl.edu	37	12	12814830	12814830	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:12814830C>T	ENST00000540510.1	-	2	745	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	GPR19_ENST00000332427.2_Missense_Mutation_p.A185T			P46093	GPR4_HUMAN	G protein-coupled receptor 19	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		CACGATGCCGCAATCATTTTC	0.488																																						dbGAP											0													111.0	95.0	101.0					12																	12814830		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.553G>A	12.37:g.12814830C>T	ENSP00000441832:p.Ala185Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A185T	ENST00000540510.1	37	c.553	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370066	0.24771	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.39997	1.05;1.05	5.67	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.365146	0.26844	N	0.022217	T	0.36303	0.0962	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.31447	-0.9943	10	0.54805	T	0.06	-18.4411	10.388	0.44152	0.134:0.7946:0.0:0.0714	.	185	Q15760	GPR19_HUMAN	T	185	ENSP00000441832:A185T;ENSP00000333744:A185T	ENSP00000333744:A185T	A	-	1	0	GPR19	12706097	0.296000	0.24398	0.088000	0.20740	0.009000	0.06853	1.667000	0.37471	1.401000	0.46761	-0.291000	0.09656	GCG	GPR19	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183150		0.488	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	HGNC	protein_coding	OTTHUMT00000400662.1	179	0.00	0	C	NM_006143		12814830	12814830	-1	no_errors	ENST00000332427	ensembl	human	known	69_37n	missense	160	17.95	35	SNP	0.017	T
GPR22	2845	genome.wustl.edu	37	7	107115001	107115002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:107115001_107115002insT	ENST00000304402.4	+	3	1839_1840	c.496_497insT	c.(496-498)attfs	p.I166fs	COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	166					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						ATCCATTTGGATTTTTTCTTTT	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.502dupT	7.37:g.107115007_107115007dupT	ENSP00000302676:p.Ile166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14554	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S168fs	ENST00000304402.4	37	c.496_497	CCDS5744.1	7																																																																																			GPR22	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172209		0.347	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1	107	0.00	0	-			107115001	107115002	+1	no_errors	ENST00000304402	ensembl	human	known	69_37n	frame_shift_ins	104	14.75	18	INS	1.000:1.000	T
GPR22	2845	genome.wustl.edu	37	7	107115738	107115739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:107115738_107115739insA	ENST00000304402.4	+	3	2576_2577	c.1233_1234insA	c.(1234-1236)aaafs	p.K412fs	COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	412					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CTAAAAGAAACAAAAAAATTAC	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.1240dupA	7.37:g.107115745_107115745dupA	ENSP00000302676:p.Lys412fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14554	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I413fs	ENST00000304402.4	37	c.1233_1234	CCDS5744.1	7																																																																																			GPR22	-	NULL	ENSG00000172209		0.342	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1	118	0.00	0	-			107115738	107115739	+1	no_errors	ENST00000304402	ensembl	human	known	69_37n	frame_shift_ins	74	25.25	25	INS	1.000:1.000	A
GPR52	9293	genome.wustl.edu	37	1	174418146	174418148	+	In_Frame_Del	DEL	CTT	CTT	-	rs183670789		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:174418146_174418148delCTT	ENST00000367685.2	+	1	935_937	c.897_899delCTT	c.(895-900)tccttc>tcc	p.F300del	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAACTCTGTCCTTCTTAACAACC	0.414																																					Ovarian(92;924 1390 1930 16467 40583)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.897_899delCTT	1.37:g.174418149_174418151delCTT	ENSP00000356658:p.Phe300del	Somatic		WXS	Illumina GAIIx	Phase_IV	O75654|Q4VBL6|Q6ISM0	In_Frame_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F300in_frame_del	ENST00000367685.2	37	c.897_899	CCDS30941.1	1																																																																																			GPR52	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000203737		0.414	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	229	0.00	0	CTT	NM_005684		174418146	174418148	+1	no_errors	ENST00000367685	ensembl	human	known	69_37n	in_frame_del	284	12.04	39	DEL	0.994:1.000:1.000	-
GPR65	8477	genome.wustl.edu	37	14	88477555	88477555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:88477555delT	ENST00000267549.3	+	2	922	c.364delT	c.(364-366)tttfs	p.F124fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	124					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CCCTTTGAAGTTTTTTTTCCT	0.428																																						dbGAP											0													199.0	194.0	196.0					14																	88477555		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.364delT	14.37:g.88477555delT	ENSP00000267549:p.Phe124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75819	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Psych_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.F124fs	ENST00000267549.3	37	c.364	CCDS9879.1	14																																																																																			GPR65	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Psych_rcpt	ENSG00000140030		0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR65	HGNC	protein_coding	OTTHUMT00000071564.4	374	0.27	1	T			88477555	88477555	+1	no_errors	ENST00000267549	ensembl	human	known	69_37n	frame_shift_del	261	19.38	63	DEL	0.992	-
GPR84	53831	genome.wustl.edu	37	12	54756762	54756762	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:54756762G>T	ENST00000551809.1	-	1	1509	c.874C>A	c.(874-876)Cca>Aca	p.P292T	GPR84_ENST00000267015.3_Missense_Mutation_p.P292T|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGCTTCTGGAGGGCTTTTC	0.517																																						dbGAP											0													117.0	124.0	122.0					12																	54756762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.874C>A	12.37:g.54756762G>T	ENSP00000450310:p.Pro292Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B6V9G7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.P292T	ENST00000551809.1	37	c.874	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107899	0.20714	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.60548	0.18;0.18	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.52980	0.1768	M	0.61703	1.905	0.09310	N	1	B	0.31413	0.322	B	0.32211	0.142	T	0.51325	-0.8720	10	0.41790	T	0.15	-3.4516	10.561	0.45146	0.0:0.0:0.8071:0.1929	.	292	Q9NQS5	GPR84_HUMAN	T	292	ENSP00000267015:P292T;ENSP00000450310:P292T	ENSP00000267015:P292T	P	-	1	0	GPR84	53043029	0.240000	0.23847	0.022000	0.16811	0.981000	0.71138	1.578000	0.36525	2.277000	0.76020	0.561000	0.74099	CCA	GPR84	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000139572		0.517	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	164	0.00	0	G			54756762	54756762	-1	no_errors	ENST00000267015	ensembl	human	known	69_37n	missense	161	14.81	28	SNP	0.001	T
GPR98	84059	genome.wustl.edu	37	5	90084103	90084103	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:90084103C>T	ENST00000405460.2	+	68	13965	c.13869C>T	c.(13867-13869)tcC>tcT	p.S4623S	GPR98_ENST00000425867.2_Silent_p.S284S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4623					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTAGACTCCAGAGCTAAAG	0.303																																						dbGAP											0													65.0	64.0	64.0					5																	90084103		1834	4081	5915	-	-	-	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13869C>T	5.37:g.90084103C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S4623	ENST00000405460.2	37	c.13869	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.303	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	158	0.00	0	C	NM_032119		90084103	90084103	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	silent	109	18.66	25	SNP	0.999	T
GPRC5D	55507	genome.wustl.edu	37	12	13103174	13103174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:13103174G>A	ENST00000228887.1	-	1	144	c.145C>T	c.(145-147)Cga>Tga	p.R49*	RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|GPRC5D_ENST00000396333.3_Nonsense_Mutation_p.R49*|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TGGATCTTTCGCATGAGGAAG	0.552																																						dbGAP											0													83.0	77.0	79.0					12																	13103174		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.145C>T	12.37:g.13103174G>A	ENSP00000228887:p.Arg49*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNV3|Q7Z5J9|Q8TDS6	Nonsense_Mutation	SNP	pfam_GPCR_3_C	p.R49*	ENST00000228887.1	37	c.145	CCDS8658.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723258	0.89298	.	.	ENSG00000111291	ENST00000228887;ENST00000396333;ENST00000541128	.	.	.	6.17	1.68	0.24146	.	0.397760	0.23652	N	0.045910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.5943	0.28039	0.0952:0.0:0.4902:0.4146	.	.	.	.	X	49	.	ENSP00000228887:R49X	R	-	1	2	GPRC5D	12994441	0.066000	0.20996	1.000000	0.80357	0.980000	0.70556	0.480000	0.22244	0.432000	0.26286	-0.169000	0.13324	CGA	GPRC5D	-	pfam_GPCR_3_C	ENSG00000111291		0.552	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5D	HGNC	protein_coding	OTTHUMT00000400687.1	183	0.54	1	G			13103174	13103174	-1	no_errors	ENST00000228887	ensembl	human	known	69_37n	nonsense	176	12.38	25	SNP	0.779	A
GPX5	2880	genome.wustl.edu	37	6	28497212	28497212	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:28497212delA	ENST00000412168.2	+	2	176				GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron|GPX6_ENST00000483058.1_5'Flank	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)						lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATTATCACTTAAAAAAAATCT	0.343																																						dbGAP											0									,	1,5,4258		0,0,1,0,5,2126	81.0	77.0	79.0		,	-3.7	0.0	6		78	0,12,8242		0,0,0,6,0,4121	no	intron,intron	GPX5	NM_003996.3,NM_001509.2	,	0,0,1,6,5,6247	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1454,0.1407,0.1438	,	,	28497212	1,17,12500	2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.88-16A>-	6.37:g.28497212delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Y0	RNA	DEL	-	NULL	ENST00000412168.2	37	NULL	CCDS4652.1	6																																																																																			GPX5	-	-	ENSG00000224586		0.343	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2	269	0.00	0	A			28497212	28497212	+1	no_errors	ENST00000442674	ensembl	human	known	69_37n	rna	216	33.43	111	DEL	0.025	-
GRHL3	57822	genome.wustl.edu	37	1	24664534	24664534	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:24664534G>A	ENST00000350501.5	+	7	1020	c.893G>A	c.(892-894)cGc>cAc	p.R298H	GRHL3_ENST00000361548.4_Missense_Mutation_p.R298H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R303H|GRHL3_ENST00000342072.4_Missense_Mutation_p.R205H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R252H	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	298					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGCAGCTGCGCTTCTGGAAG	0.577																																						dbGAP											0													120.0	112.0	114.0					1																	24664534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.893G>A	1.37:g.24664534G>A	ENSP00000288955:p.Arg298His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R298H	ENST00000350501.5	37	c.893	CCDS252.2	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942860	0.92526	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	6.07	6.07	0.98685	.	0.119953	0.53938	D	0.000056	T	0.33760	0.0874	L	0.59436	1.845	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67231	0.95;0.917;0.917	T	0.03184	-1.1063	10	0.72032	D	0.01	-28.6675	8.9493	0.35779	0.1554:0.0:0.8446:0.0	.	252;303;298	A2A297;Q8TE85-2;G3XAF0	.;.;.	H	298;205;298;252;303	ENSP00000354943:R298H;ENSP00000340543:R205H;ENSP00000288955:R298H;ENSP00000348333:R252H;ENSP00000236255:R303H	ENSP00000236255:R303H	R	+	2	0	GRHL3	24537121	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	5.355000	0.66046	2.885000	0.99019	0.655000	0.94253	CGC	GRHL3	-	pfam_CP2	ENSG00000158055		0.577	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	41	0.00	0	G	NM_021180		24664534	24664534	+1	no_errors	ENST00000350501	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	0.998	A
GRID1	2894	genome.wustl.edu	37	10	87484325	87484325	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:87484325G>A	ENST00000327946.7	-	11	1727	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	GRID1_ENST00000536331.1_Missense_Mutation_p.P119S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	548					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTCTCCTCGGGCTTCTTAATT	0.512										Multiple Myeloma(13;0.14)																												dbGAP											0													70.0	68.0	69.0					10																	87484325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1642C>T	10.37:g.87484325G>A	ENSP00000330148:p.Pro548Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P548S	ENST00000327946.7	37	c.1642	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728723	0.48833	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.11821	2.74;2.74	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.212444	0.50627	D	0.000108	T	0.16428	0.0395	L	0.35723	1.085	0.80722	D	1	B	0.22746	0.074	B	0.27170	0.077	T	0.02698	-1.1122	10	0.62326	D	0.03	.	19.0851	0.93200	0.0:0.0:1.0:0.0	.	548	Q9ULK0	GRID1_HUMAN	S	548;119	ENSP00000330148:P548S;ENSP00000444455:P119S	ENSP00000330148:P548S	P	-	1	0	GRID1	87474305	1.000000	0.71417	0.996000	0.52242	0.234000	0.25298	3.870000	0.56070	2.741000	0.93983	0.650000	0.86243	CCC	GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	68	0.00	0	G	XM_043613		87484325	87484325	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	missense	41	32.79	20	SNP	1.000	A
GRIK2	2898	genome.wustl.edu	37	6	102503432	102503432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:102503432delA	ENST00000421544.1	+	15	3029	c.2539delA	c.(2539-2541)aaafs	p.K848fs	GRIK2_ENST00000318991.6_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.K799fs|GRIK2_ENST00000369138.1_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.K772fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATACAAATCCAAAAAAAACGC	0.348																																						dbGAP											2	Deletion - Frameshift(2)	lung(2)											77.0	88.0	84.0					6																	102503432		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2539delA	6.37:g.102503432delA	ENSP00000397026:p.Lys848fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N849fs	ENST00000421544.1	37	c.2539	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.348	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	193	0.00	0	A			102503432	102503432	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	frame_shift_del	162	19.62	41	DEL	1.000	-
GRIN3A	116443	genome.wustl.edu	37	9	104432497	104432497	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:104432497C>T	ENST00000361820.3	-	3	2797	c.2197G>A	c.(2197-2199)Gcc>Acc	p.A733T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	733					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGTTTGATGGCCACTGTTCTG	0.443																																						dbGAP											0													99.0	95.0	96.0					9																	104432497		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2197G>A	9.37:g.104432497C>T	ENSP00000355155:p.Ala733Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.A733T	ENST00000361820.3	37	c.2197	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460826	0.84317	.	.	ENSG00000198785	ENST00000361820	T	0.53423	0.62	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	L	0.45137	1.4	0.80722	D	1	D	0.60575	0.988	D	0.65233	0.933	T	0.60895	-0.7172	10	0.52906	T	0.07	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	733	Q8TCU5	NMD3A_HUMAN	T	733	ENSP00000355155:A733T	ENSP00000355155:A733T	A	-	1	0	GRIN3A	103472318	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	6.043000	0.71004	2.714000	0.92807	0.580000	0.79431	GCC	GRIN3A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000198785		0.443	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	191	0.00	0	C			104432497	104432497	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	missense	94	45.66	79	SNP	1.000	T
GTF2IRD1	9569	genome.wustl.edu	37	7	73927243	73927243	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:73927243G>A	ENST00000265755.3	+	3	600	c.207G>A	c.(205-207)aaG>aaA	p.K69K	GTF2IRD1_ENST00000424337.2_Silent_p.K69K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.K69K|GTF2IRD1_ENST00000476977.1_Silent_p.K69K	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	69					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCACAGAGAAGGGGAGAATGT	0.632																																						dbGAP											0													103.0	88.0	93.0					7																	73927243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.207G>A	7.37:g.73927243G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.K69	ENST00000265755.3	37	c.207	CCDS5571.1	7																																																																																			GTF2IRD1	-	pirsf_TF_II-I	ENSG00000006704		0.632	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	58	0.00	0	G	NM_016328		73927243	73927243	+1	no_errors	ENST00000265755	ensembl	human	known	69_37n	silent	24	17.24	5	SNP	1.000	A
GUCY2C	2984	genome.wustl.edu	37	12	14772223	14772223	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:14772223C>T	ENST00000261170.3	-	24	2933	c.2797G>A	c.(2797-2799)Gtg>Atg	p.V933M	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	933	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGATTCCCACAACTCCAGCA	0.473																																						dbGAP											0													109.0	105.0	106.0					12																	14772223		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2797G>A	12.37:g.14772223C>T	ENSP00000261170:p.Val933Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.V933M	ENST00000261170.3	37	c.2797	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.061385	0.93846	.	.	ENSG00000070019	ENST00000261170	D	0.86230	-2.09	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95232	0.8343	10	0.87932	D	0	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	933	P25092	GUC2C_HUMAN	M	933	ENSP00000261170:V933M	ENSP00000261170:V933M	V	-	1	0	GUCY2C	14663490	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.752000	0.85141	2.466000	0.83321	0.655000	0.94253	GTG	GUCY2C	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000070019		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	153	0.00	0	C			14772223	14772223	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	109	14.17	18	SNP	1.000	T
GTSF1	121355	genome.wustl.edu	37	12	54858554	54858554	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:54858554G>A	ENST00000552397.1	-	3	1014				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Intron|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1							cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TAGAAGATAGGCAGGATTTCT	0.333																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.117+296C>T	12.37:g.54858554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ60|Q0VGM4|Q8N778	RNA	SNP	-	NULL	ENST00000552397.1	37	NULL	CCDS8881.1	12																																																																																			GTSF1	-	-	ENSG00000170627		0.333	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	16	0.00	0	G	NM_144594		54858554	54858554	-1	no_errors	ENST00000548538	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.001	A
GXYLT2	727936	genome.wustl.edu	37	3	73016711	73016711	+	Silent	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:73016711A>T	ENST00000389617.4	+	6	1151	c.990A>T	c.(988-990)gtA>gtT	p.V330V		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	330					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GTCTCTATGTATTCCCCTGCC	0.488																																						dbGAP											0													76.0	74.0	75.0					3																	73016711		1996	4190	6186	-	-	-	SO:0001819	synonymous_variant	0			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.990A>T	3.37:g.73016711A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Glyco_trans_8	p.V330	ENST00000389617.4	37	c.990	CCDS46870.1	3																																																																																			GXYLT2	-	pfam_Glyco_trans_8	ENSG00000172986		0.488	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT2	HGNC	protein_coding	OTTHUMT00000352318.1	78	0.00	0	A	NM_001080393		73016711	73016711	+1	no_errors	ENST00000389617	ensembl	human	known	69_37n	silent	38	34.48	20	SNP	1.000	T
H2AFZ	3015	genome.wustl.edu	37	4	100869623	100869624	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:100869623_100869624delAC	ENST00000296417.5	-	5	599_600	c.382_383delGT	c.(382-384)gtcfs	p.V128fs	DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	128					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CATCCTTTAGACAGTCTTCTGT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.382_383delGT	4.37:g.100869623_100869624delAC	ENSP00000296417:p.Val128fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD56|P17317|Q6I9U0	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.V128fs	ENST00000296417.5	37	c.383_382	CCDS3654.1	4																																																																																			H2AFZ	-	NULL	ENSG00000164032		0.396	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	H2AFZ	HGNC	protein_coding	OTTHUMT00000253695.1	61	0.00	0	AC	NM_002106		100869623	100869624	-1	no_errors	ENST00000296417	ensembl	human	known	69_37n	frame_shift_del	27	12.90	4	DEL	0.998:1.000	-
HADHA	3030	genome.wustl.edu	37	2	26414300	26414300	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:26414300C>T	ENST00000380649.3	-	20	2276					NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGAGACGCAACACGGGCT	0.547																																						dbGAP											0													60.0	57.0	58.0					2																	26414300		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.2147-36G>A	2.37:g.26414300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.C219Y	ENST00000380649.3	37	c.656	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086100	0.36855	.	.	ENSG00000084754	ENST00000492433	T	0.81163	-1.46	5.61	0.379	0.16213	.	.	.	.	.	T	0.76133	0.3945	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.66905	-0.5805	6	0.87932	D	0	.	4.7978	0.13281	0.0:0.4062:0.2739:0.3198	.	.	.	.	Y	219	ENSP00000438039:C219Y	ENSP00000438039:C219Y	C	-	2	0	HADHA	26267804	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	0.120000	0.15647	-0.133000	0.11537	0.543000	0.68304	TGC	HADHA	-	NULL	ENSG00000084754		0.547	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1	54	0.00	0	C	NM_000182		26414300	26414300	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492433	ensembl	human	putative	69_37n	missense	25	21.88	7	SNP	0.000	T
HAPLN3	145864	genome.wustl.edu	37	15	89424727	89424727	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:89424727G>A	ENST00000359595.3	-	3	568	c.354C>T	c.(352-354)cgC>cgT	p.R118R	HAPLN3_ENST00000562889.1_Silent_p.R180R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	118	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCAGGTGCACGCGGCCTTGGT	0.627																																						dbGAP											0													101.0	78.0	86.0					15																	89424727		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.354C>T	15.37:g.89424727G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P0	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,prints_Link,pfscan_Link,pfscan_Ig-like	p.R118	ENST00000359595.3	37	c.354	CCDS10346.1	15																																																																																			HAPLN3	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000140511		0.627	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN3	HGNC	protein_coding	OTTHUMT00000309070.1	82	0.00	0	G	NM_178232		89424727	89424727	-1	no_errors	ENST00000359595	ensembl	human	known	69_37n	silent	17	66.67	34	SNP	0.551	A
HDAC1	3065	genome.wustl.edu	37	1	32797615	32797615	+	Intron	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:32797615G>T	ENST00000373548.3	+	12	1303				HDAC1_ENST00000373541.2_Intron	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GGACACGCAGGGAAGCACTGG	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1220-76G>T	1.37:g.32797615G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92534	RNA	SNP	-	NULL	ENST00000373548.3	37	NULL	CCDS360.1	1																																																																																			HDAC1	-	-	ENSG00000116478		0.562	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	63	0.00	0	G	NM_004964		32797615	32797615	+1	no_errors	ENST00000471488	ensembl	human	putative	69_37n	rna	6	66.67	12	SNP	0.010	T
HDAC4	9759	genome.wustl.edu	37	2	240066299	240066299	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:240066299delT	ENST00000345617.3	-	8	1636	c.845delA	c.(844-846)aagfs	p.K282fs	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Frame_Shift_Del_p.K251fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	282	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAACGGACGCTTTTTTAGAGC	0.572																																						dbGAP											0													103.0	98.0	100.0					2																	240066299		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.845delA	2.37:g.240066299delT	ENSP00000264606:p.Lys282fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UND6	Frame_Shift_Del	DEL	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K282fs	ENST00000345617.3	37	c.845	CCDS2529.1	2																																																																																			HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.572	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	74	0.00	0	T	NM_006037		240066299	240066299	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	frame_shift_del	24	18.75	6	DEL	1.000	-
HDX	139324	genome.wustl.edu	37	X	83591867	83591867	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:83591867G>A	ENST00000297977.5	-	7	1793	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	HDX_ENST00000506585.2_Missense_Mutation_p.P503L|HDX_ENST00000373177.2_Missense_Mutation_p.P561L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	561						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGCATCATTCGGAACAACTTC	0.343																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													96.0	78.0	84.0					X																	83591867		2202	4298	6500	-	-	-	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1682C>T	X.37:g.83591867G>A	ENSP00000297977:p.Pro561Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.P561L	ENST00000297977.5	37	c.1682	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841595	0.16963	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.29917	1.57;1.55;1.57	5.33	4.47	0.54385	.	0.527335	0.21404	N	0.075087	T	0.18045	0.0433	N	0.19112	0.55	0.37600	D	0.920532	B	0.09022	0.002	B	0.01281	0.0	T	0.09100	-1.0690	10	0.33940	T	0.23	-9.4206	6.8705	0.24119	0.0922:0.0:0.6822:0.2256	.	561	Q7Z353	HDX_HUMAN	L	561;503;561	ENSP00000297977:P561L;ENSP00000362272:P503L;ENSP00000423670:P561L	ENSP00000297977:P561L	P	-	2	0	HDX	83478523	1.000000	0.71417	0.773000	0.31616	0.615000	0.37417	1.591000	0.36665	1.142000	0.42291	0.502000	0.49764	CCG	HDX	-	NULL	ENSG00000165259		0.343	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	39	0.00	0	G	NM_144657		83591867	83591867	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.999	A
HEATR5B	54497	genome.wustl.edu	37	2	37304104	37304104	+	Missense_Mutation	SNP	C	C	T	rs369680339		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:37304104C>T	ENST00000233099.5	-	4	492	c.397G>A	c.(397-399)Gca>Aca	p.A133T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A133T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	133						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCTGGAAATGCGCTGCCCAAC	0.388																																						dbGAP											0													92.0	90.0	90.0					2																	37304104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.397G>A	2.37:g.37304104C>T	ENSP00000233099:p.Ala133Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A133T	ENST00000233099.5	37	c.397	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	8.549	0.875079	0.17395	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.64803	-0.12;-0.12	5.1	4.23	0.50019	Armadillo-like helical (1);Armadillo-type fold (1);	0.116230	0.64402	N	0.000018	T	0.23806	0.0576	N	0.00368	-1.59	0.42668	D	0.993505	B	0.02656	0.0	B	0.08055	0.003	T	0.07366	-1.0776	10	0.20519	T	0.43	-10.7679	8.5913	0.33688	0.2737:0.6498:0.0:0.0766	.	133	Q9P2D3	HTR5B_HUMAN	T	133	ENSP00000233099:A133T;ENSP00000346531:A133T	ENSP00000233099:A133T	A	-	1	0	HEATR5B	37157608	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.407000	0.59754	1.284000	0.44531	0.491000	0.48974	GCA	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	147	0.00	0	C	NM_019024		37304104	37304104	-1	no_errors	ENST00000233099	ensembl	human	known	69_37n	missense	119	42.79	89	SNP	1.000	T
HECTD2	143279	genome.wustl.edu	37	10	93257913	93257915	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:93257913_93257915delGAA	ENST00000298068.5	+	16	1823_1825	c.1729_1731delGAA	c.(1729-1731)gaadel	p.E578del	HECTD2_ENST00000371667.1_In_Frame_Del_p.E228del|HECTD2_ENST00000446394.1_In_Frame_Del_p.E582del|HECTD2_ENST00000536715.1_In_Frame_Del_p.E167del	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	578	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AGGCAATGTTGAAGAAGATTTCT	0.305																																					NSCLC(12;376 469 1699 39910 41417)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1729_1731delGAA	10.37:g.93257916_93257918delGAA	ENSP00000298068:p.Glu578del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	In_Frame_Del	DEL	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.E582in_frame_del	ENST00000298068.5	37	c.1741_1743	CCDS7414.1	10																																																																																			HECTD2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000165338		0.305	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	134	0.00	0	GAA			93257913	93257915	+1	no_errors	ENST00000446394	ensembl	human	known	69_37n	in_frame_del	135	19.64	33	DEL	1.000:1.000:1.000	-
HELB	92797	genome.wustl.edu	37	12	66717934	66717934	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:66717934G>A	ENST00000247815.4	+	10	2528	c.2469G>A	c.(2467-2469)aaG>aaA	p.K823K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	823					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTAAAAATAAGCGTGACTTTG	0.328																																						dbGAP											0													92.0	99.0	96.0					12																	66717934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2469G>A	12.37:g.66717934G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	NULL	p.K823	ENST00000247815.4	37	c.2469	CCDS8976.1	12																																																																																			HELB	-	NULL	ENSG00000127311		0.328	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	162	0.00	0	G			66717934	66717934	+1	no_errors	ENST00000247815	ensembl	human	known	69_37n	silent	158	18.13	35	SNP	0.080	A
HELZ	9931	genome.wustl.edu	37	17	65184497	65184497	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:65184497delA	ENST00000358691.5	-	12	1266	c.1100delT	c.(1099-1101)ttcfs	p.F367fs	HELZ_ENST00000580168.1_Frame_Shift_Del_p.F367fs|HELZ_ENST00000580662.1_5'Flank	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	367						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCAAAGTCGAAAACTATGGT	0.373																																						dbGAP											0													147.0	140.0	142.0					17																	65184497		1843	4099	5942	-	-	-	SO:0001589	frameshift_variant	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1100delT	17.37:g.65184497delA	ENSP00000351524:p.Phe367fs	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.F367fs	ENST00000358691.5	37	c.1100	CCDS42374.1	17																																																																																			HELZ	-	NULL	ENSG00000198265		0.373	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	275	0.00	0	A	NM_014877		65184497	65184497	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	frame_shift_del	277	19.31	67	DEL	1.000	-
HEPH	9843	genome.wustl.edu	37	X	65480089	65480090	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:65480089_65480090insT	ENST00000343002.2	+	18	3848_3849	c.3184_3185insT	c.(3184-3186)gttfs	p.V1062fs	HEPH_ENST00000374727.3_Frame_Shift_Ins_p.V1065fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.V1116fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.V873fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.V795fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.V1065fs			Q9BQS7	HEPH_HUMAN	hephaestin	1062	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTCTTCACTGTTTTTTCTCGA	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3190dupT	X.37:g.65480095_65480095dupT	ENSP00000343939:p.Val1062fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S1118fs	ENST00000343002.2	37	c.3346_3347		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.460	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	155	0.00	0	-	NM_138737		65480089	65480090	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	frame_shift_ins	64	23.81	20	INS	1.000:1.000	T
HERC2	8924	genome.wustl.edu	37	15	28377860	28377860	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:28377860C>G	ENST00000261609.7	-	80	12455	c.12347G>C	c.(12346-12348)gGc>gCc	p.G4116A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGGCCTTTGCCCCATGTGTA	0.647																																						dbGAP											0													61.0	65.0	64.0					15																	28377860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12347G>C	15.37:g.28377860C>G	ENSP00000261609:p.Gly4116Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.G4116A	ENST00000261609.7	37	c.12347	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030947	0.93575	.	.	ENSG00000128731	ENST00000261609	D	0.99957	-9.0	4.86	4.86	0.63082	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.116516	0.56097	D	0.000026	D	0.99969	0.9989	H	0.99830	4.82	0.80722	D	1	D	0.56521	0.976	P	0.60473	0.875	D	0.96581	0.9430	10	0.87932	D	0	.	18.3848	0.90463	0.0:1.0:0.0:0.0	.	4116	O95714	HERC2_HUMAN	A	4116	ENSP00000261609:G4116A	ENSP00000261609:G4116A	G	-	2	0	HERC2	26051455	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.765000	0.85310	2.418000	0.82041	0.555000	0.69702	GGC	HERC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000128731		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	29	0.00	0	C	NM_004667		28377860	28377860	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	26	43.48	20	SNP	1.000	G
HERC1	8925	genome.wustl.edu	37	15	64015488	64015488	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:64015488T>C	ENST00000443617.2	-	19	3722	c.3635A>G	c.(3634-3636)tAt>tGt	p.Y1212C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1212					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCGCAATTTATAATCAAAAGG	0.388																																						dbGAP											0													40.0	37.0	38.0					15																	64015488		1818	4082	5900	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3635A>G	15.37:g.64015488T>C	ENSP00000390158:p.Tyr1212Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Y1212C	ENST00000443617.2	37	c.3635	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	T	14.55	2.570107	0.45798	.	.	ENSG00000103657	ENST00000443617	T	0.23147	1.92	5.34	5.34	0.76211	.	0.077563	0.53938	U	0.000053	T	0.13543	0.0328	N	0.03115	-0.41	0.52501	D	0.999959	B	0.06786	0.001	B	0.06405	0.002	T	0.07731	-1.0757	10	0.38643	T	0.18	.	15.3079	0.74008	0.0:0.0:0.0:1.0	.	1212	Q15751	HERC1_HUMAN	C	1212	ENSP00000390158:Y1212C	ENSP00000390158:Y1212C	Y	-	2	0	HERC1	61802541	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.655000	0.67981	2.009000	0.58944	0.482000	0.46254	TAT	HERC1	-	NULL	ENSG00000103657		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	26	0.00	0	T	NM_003922		64015488	64015488	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	8	60.00	12	SNP	1.000	C
HGF	3082	genome.wustl.edu	37	7	81335612	81335612	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:81335612T>G	ENST00000222390.5	-	15	1974	c.1748A>C	c.(1747-1749)aAg>aCg	p.K583T	HGF_ENST00000457544.2_Missense_Mutation_p.K578T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	583	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTGGCAAGCTTCATTAAAAC	0.413																																						dbGAP											0													109.0	105.0	106.0					7																	81335612		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1748A>C	7.37:g.81335612T>G	ENSP00000222390:p.Lys583Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K583T	ENST00000222390.5	37	c.1748	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520662	0.64747	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.90788	-2.73;-2.73	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.048734	0.64402	D	0.000001	D	0.94896	0.8350	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95521	0.8594	10	0.87932	D	0	.	14.3926	0.66989	0.0:0.0:0.0:1.0	.	578;583	P14210-3;P14210	.;HGF_HUMAN	T	583;578	ENSP00000222390:K583T;ENSP00000391238:K578T	ENSP00000222390:K583T	K	-	2	0	HGF	81173548	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.438000	0.59961	1.848000	0.53677	0.397000	0.26171	AAG	HGF	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000019991		0.413	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	104	0.00	0	T	NM_000601		81335612	81335612	-1	no_errors	ENST00000222390	ensembl	human	known	69_37n	missense	87	20.91	23	SNP	1.000	G
HIC2	23119	genome.wustl.edu	37	22	21800890	21800890	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:21800890G>A	ENST00000443632.2	+	2	2078	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	HIC2_ENST00000407598.2_Missense_Mutation_p.R569H|HIC2_ENST00000407464.2_Missense_Mutation_p.R569H			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	569					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGGCATGCGCTTCACCCGT	0.627																																					NSCLC(23;437 858 2282 27947 40366)	dbGAP											0													76.0	62.0	67.0					22																	21800890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1706G>A	22.37:g.21800890G>A	ENSP00000387757:p.Arg569His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R569H	ENST00000443632.2	37	c.1706	CCDS13789.1	22	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014106	0.75161	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.15952	2.38;2.38;2.38	4.79	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.41124	1.26	0.53688	D	0.999975	D	0.76494	0.999	D	0.63033	0.91	T	0.01146	-1.1437	10	0.33141	T	0.24	.	12.0136	0.53301	0.0:0.0:0.8258:0.1741	.	569	Q96JB3	HIC2_HUMAN	H	569	ENSP00000385319:R569H;ENSP00000384889:R569H;ENSP00000387757:R569H	ENSP00000385319:R569H	R	+	2	0	HIC2	20130890	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.509000	0.73725	1.210000	0.43336	0.558000	0.71614	CGC	HIC2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169635		0.627	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	27	0.00	0	G			21800890	21800890	+1	no_errors	ENST00000407464	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	A
HIST1H2AE	3012	genome.wustl.edu	37	6	26217309	26217309	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:26217309G>A	ENST00000303910.2	+	1	145	c.107G>A	c.(106-108)cGc>cAc	p.R36H	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	36						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				CGCCTCCTCCGCAAAGGCAAC	0.602																																						dbGAP											0													54.0	49.0	51.0					6																	26217309		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.107G>A	6.37:g.26217309G>A	ENSP00000303373:p.Arg36His	Somatic		WXS	Illumina GAIIx	Phase_IV	P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R36H	ENST00000303910.2	37	c.107	CCDS4595.1	6	.	.	.	.	.	.	.	.	.	.	.	13.33	2.204350	0.38905	.	.	ENSG00000168274	ENST00000303910	T	0.52057	0.68	3.98	3.98	0.46160	.	0.000000	0.34777	U	0.003684	T	0.64316	0.2587	M	0.86740	2.835	0.50039	D	0.999844	.	.	.	.	.	.	T	0.72711	-0.4211	8	0.72032	D	0.01	.	15.5689	0.76317	0.0:0.0:1.0:0.0	.	.	.	.	H	36	ENSP00000303373:R36H	ENSP00000303373:R36H	R	+	2	0	HIST1H2AE	26325288	0.987000	0.35691	0.717000	0.30585	0.004000	0.04260	5.384000	0.66225	2.215000	0.71742	0.585000	0.79938	CGC	HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	81	0.00	0	G	NM_021052		26217309	26217309	+1	no_errors	ENST00000303910	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	1.000	A
HIST1H2AI	8329	genome.wustl.edu	37	6	27776216	27776216	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:27776216A>T	ENST00000358739.3	+	1	318	c.229A>T	c.(229-231)Act>Tct	p.T77S	HIST1H2BL_ENST00000377401.2_5'Flank|HIST1H3H_ENST00000369163.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	77						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CAACAAGAAGACTCGCATCAT	0.652																																						dbGAP											0													31.0	32.0	32.0					6																	27776216		2201	4276	6477	-	-	-	SO:0001583	missense	0			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.229A>T	6.37:g.27776216A>T	ENSP00000351589:p.Thr77Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.T77S	ENST00000358739.3	37	c.229	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	15.89	2.966577	0.53507	.	.	ENSG00000196747	ENST00000358739	T	0.67523	-0.27	4.57	4.57	0.56435	.	0.000000	0.41294	D	0.000908	T	0.63177	0.2489	.	.	.	0.37868	D	0.929963	.	.	.	.	.	.	T	0.64241	-0.6454	7	0.33940	T	0.23	.	13.8135	0.63276	1.0:0.0:0.0:0.0	.	.	.	.	S	77	ENSP00000351589:T77S	ENSP00000351589:T77S	T	+	1	0	HIST1H2AI	27884195	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.792000	0.75125	1.993000	0.58246	0.459000	0.35465	ACT	HIST1H2AI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196747		0.652	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	77	0.00	0	A	NM_003509		27776216	27776216	+1	no_errors	ENST00000358739	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	1.000	T
HIST1H2AM	8336	genome.wustl.edu	37	6	27860700	27860701	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:27860700_27860701insT	ENST00000359611.2	-	1	262_263	c.227_228insA	c.(226-228)aagfs	p.K76fs	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	76						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGATGCGGGTCTTTTTGTTGTC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.228dupA	6.37:g.27860705_27860705dupT	ENSP00000352627:p.Lys76fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P02261|Q2M1R2|Q76PA6	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.T77fs	ENST00000359611.2	37	c.228_227	CCDS4639.1	6																																																																																			HIST1H2AM	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000233224		0.644	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AM	HGNC	protein_coding	OTTHUMT00000040162.1	93	0.00	0	-	NM_003514		27860700	27860701	-1	no_errors	ENST00000359611	ensembl	human	known	69_37n	frame_shift_ins	110	13.39	17	INS	1.000:1.000	T
HIST1H2BB	3018	genome.wustl.edu	37	6	26043669	26043669	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:26043669G>A	ENST00000357905.2	-	1	216	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	73					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCCGCGATGCGCTCGAAGATG	0.577																																						dbGAP											0													136.0	131.0	133.0					6																	26043669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.217C>T	6.37:g.26043669G>A	ENSP00000350580:p.Arg73Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R73C	ENST00000357905.2	37	c.217	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	g	14.84	2.656994	0.47467	.	.	ENSG00000196226	ENST00000357905	T	0.70282	-0.47	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.56411	0.1983	L	0.49126	1.545	0.80722	D	1	B	0.18013	0.025	B	0.12837	0.008	T	0.58002	-0.7713	10	0.51188	T	0.08	.	17.8155	0.88632	0.0:0.0:1.0:0.0	.	73	P33778	H2B1B_HUMAN	C	73	ENSP00000350580:R73C	ENSP00000350580:R73C	R	-	1	0	HIST1H2BB	26151648	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.949000	0.87791	2.498000	0.84270	0.467000	0.42956	CGC	HIST1H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196226		0.577	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	129	0.00	0	G	NM_021062		26043669	26043669	-1	no_errors	ENST00000357905	ensembl	human	known	69_37n	missense	82	31.67	38	SNP	1.000	A
HIST1H2BF	8343	genome.wustl.edu	37	6	26200095	26200095	+	Silent	SNP	G	G	A	rs199603482	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:26200095G>A	ENST00000359985.1	+	1	348	c.309G>A	c.(307-309)ctG>ctA	p.L103L	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	103					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCCTGCTGCTGCCCGGGGAGC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		19133	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													67.0	73.0	71.0					6																	26200095		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.309G>A	6.37:g.26200095G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.L103	ENST00000359985.1	37	c.309	CCDS4592.1	6																																																																																			HIST1H2BF	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197846		0.597	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BF	HGNC	protein_coding	OTTHUMT00000040108.1	109	0.00	0	G	NM_003522		26200095	26200095	+1	no_errors	ENST00000359985	ensembl	human	known	69_37n	silent	78	27.78	30	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185880816	185880816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:185880816delA	ENST00000271588.4	+	6	1033	c.804delA	c.(802-804)atafs	p.I268fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.I268fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	268					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAAGCTGATAAAAAAGGGAT	0.388																																						dbGAP											0													215.0	229.0	224.0					1																	185880816		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.804delA	1.37:g.185880816delA	ENSP00000271588:p.Ile268fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K270fs	ENST00000271588.4	37	c.804	CCDS30956.1	1																																																																																			HMCN1	-	NULL	ENSG00000143341		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	154	0.00	0	A	NM_031935		185880816	185880816	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	frame_shift_del	177	13.88	29	DEL	0.813	-
HMCN1	83872	genome.wustl.edu	37	1	185950172	185950172	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:185950172C>G	ENST00000271588.4	+	17	2858	c.2629C>G	c.(2629-2631)Cag>Gag	p.Q877E	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q877E|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	877	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAAAGATCCAGTCAGAGAC	0.378																																						dbGAP											0													149.0	153.0	152.0					1																	185950172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2629C>G	1.37:g.185950172C>G	ENSP00000271588:p.Gln877Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Q877E	ENST00000271588.4	37	c.2629	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854636	0.32791	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63417	-0.04;-0.04	5.81	3.88	0.44766	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.322809	0.34879	N	0.003605	T	0.40546	0.1121	N	0.05534	-0.03	0.31746	N	0.635185	B;P	0.37233	0.002;0.588	B;P	0.46253	0.009;0.509	T	0.51779	-0.8662	10	0.02654	T	1	.	5.9557	0.19271	0.1283:0.5571:0.2458:0.0688	.	261;877	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	E	877	ENSP00000271588:Q877E;ENSP00000356462:Q877E	ENSP00000271588:Q877E	Q	+	1	0	HMCN1	184216795	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.759000	0.38420	1.472000	0.48140	0.655000	0.94253	CAG	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000143341		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	156	0.00	0	C	NM_031935		185950172	185950172	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	186	13.08	28	SNP	0.999	G
HMCN1	83872	genome.wustl.edu	37	1	186031692	186031692	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:186031692A>G	ENST00000271588.4	+	48	7702	c.7473A>G	c.(7471-7473)gtA>gtG	p.V2491V	HMCN1_ENST00000367492.2_Silent_p.V2491V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2491	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGTGAAGGTAAAAGAGAAAC	0.423																																						dbGAP											0													107.0	101.0	103.0					1																	186031692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7473A>G	1.37:g.186031692A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.V2491	ENST00000271588.4	37	c.7473	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000143341		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	121	0.00	0	A	NM_031935		186031692	186031692	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	105	13.22	16	SNP	0.950	G
HMGCR	3156	genome.wustl.edu	37	5	74646165	74646165	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:74646165C>T	ENST00000287936.4	+	8	902	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMGCR_ENST00000343975.5_Missense_Mutation_p.P249L|HMGCR_ENST00000511206.1_Missense_Mutation_p.P249L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	249					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GAAAATAAGCCGAATCCTGTA	0.398																																						dbGAP											0													61.0	64.0	63.0					5																	74646165		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.746C>T	5.37:g.74646165C>T	ENSP00000287936:p.Pro249Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Y9|Q8N190	Missense_Mutation	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.P249L	ENST00000287936.4	37	c.746	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.545641	0.96488	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.50277	0.8;0.8;0.75	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.986;0.993;0.986	T	0.73987	-0.3809	10	0.72032	D	0.01	-16.0727	20.6593	0.99626	0.0:1.0:0.0:0.0	.	249;249;249	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	L	249;180;249;249	ENSP00000426745:P249L;ENSP00000287936:P249L;ENSP00000340816:P249L	ENSP00000287936:P249L	P	+	2	0	HMGCR	74681921	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.710000	0.84655	2.885000	0.99019	0.655000	0.94253	CCG	HMGCR	-	pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan	ENSG00000113161		0.398	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	126	0.00	0	C			74646165	74646165	+1	no_errors	ENST00000287936	ensembl	human	known	69_37n	missense	76	41.54	54	SNP	1.000	T
HNF1A	6927	genome.wustl.edu	37	12	121431449	121431449	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:121431449A>G	ENST00000257555.6	+	3	879	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	HNF1A_ENST00000543427.1_Missense_Mutation_p.Y101C|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.Y218C|HNF1A_ENST00000402929.1_Missense_Mutation_p.Y218C|HNF1A_ENST00000400024.2_Missense_Mutation_p.Y218C|HNF1A_ENST00000541395.1_Missense_Mutation_p.Y218C			P20823	HNF1A_HUMAN	HNF1 homeobox A	218					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A217fs*7(1)|p.Y218C(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCAGGCCTATGAGAGGCAG	0.577									Hepatic Adenoma, Familial Clustering of																													dbGAP											2	Substitution - Missense(1)|Deletion - Frameshift(1)	liver(2)	GRCh37	CM003341	HNF1A	M							98.0	91.0	93.0					12																	121431449		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.653A>G	12.37:g.121431449A>G	ENSP00000257555:p.Tyr218Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain	p.Y218C	ENST00000257555.6	37	c.653	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039690	0.75732	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	4.45	4.45	0.53987	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000015	D	0.97483	0.9176	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.74674	0.968;0.966;0.972;0.984	D	0.98025	1.0373	10	0.87932	D	0	-10.4502	12.937	0.58320	1.0:0.0:0.0:0.0	.	218;218;218;218	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	C	218;218;218;218;218;101;218;218;218;218;218	ENSP00000257555:Y218C;ENSP00000439721:Y101C;ENSP00000443112:Y218C;ENSP00000438804:Y218C	ENSP00000257555:Y218C	Y	+	2	0	HNF1A	119915832	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	8.801000	0.91905	1.662000	0.50781	0.423000	0.28283	TAT	HNF1A	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000135100		0.577	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	54	0.00	0	A	NM_000545		121431449	121431449	+1	no_errors	ENST00000257555	ensembl	human	known	69_37n	missense	32	39.62	21	SNP	1.000	G
HNRNPK	3190	genome.wustl.edu	37	9	86584223	86584223	+	3'UTR	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:86584223delA	ENST00000376264.2	-	0	1692				HNRNPK_ENST00000360384.5_3'UTR|HNRNPK_ENST00000376281.4_3'UTR|RP11-575L7.8_ENST00000448389.1_RNA|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376263.3_3'UTR|HNRNPK_ENST00000351839.3_3'UTR	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AGAAGCAGATAAAAAAAAAAA	0.338																																						dbGAP											0													28.0	35.0	33.0					9																	86584223		2183	4268	6451	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.*42T>-	9.37:g.86584223delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	RNA	DEL	-	NULL	ENST00000376264.2	37	NULL	CCDS6667.1	9																																																																																			HNRNPK	-	-	ENSG00000165119		0.338	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	112	0.00	0	A			86584223	86584223	-1	no_errors	ENST00000493362	ensembl	human	known	69_37n	rna	69	41.98	55	DEL	1.000	-
HNRNPK	3190	genome.wustl.edu	37	9	86590410	86590410	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:86590410C>G	ENST00000376264.2	-	6	482	c.224G>C	c.(223-225)aGt>aCt	p.S75T	HNRNPK_ENST00000360384.5_Missense_Mutation_p.S75T|HNRNPK_ENST00000376281.4_Missense_Mutation_p.S75T|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.S75T|HNRNPK_ENST00000351839.3_Missense_Mutation_p.S75T	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	75	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GACTGAAACACTGGCATTGTA	0.483																																						dbGAP											0													243.0	200.0	214.0					9																	86590410		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.224G>C	9.37:g.86590410C>G	ENSP00000365440:p.Ser75Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.S75T	ENST00000376264.2	37	c.224	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246106	0.39697	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000457156;ENST00000376256	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	6.01	6.01	0.97437	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.038910	0.85682	D	0.000000	T	0.34600	0.0903	N	0.22421	0.69	0.80722	D	1	B;B;P;B;B;P;B	0.45986	0.284;0.007;0.87;0.112;0.449;0.87;0.137	B;B;P;B;B;P;B	0.51016	0.34;0.013;0.514;0.036;0.306;0.656;0.06	T	0.01165	-1.1431	10	0.21540	T	0.41	-6.4555	20.5211	0.99222	0.0:1.0:0.0:0.0	.	75;64;75;75;75;75;75	B4DUQ1;Q5T6W5;Q5EC54;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;HNRPK_HUMAN;.	T	75;75;75;75;75;64;75;75;6	ENSP00000365458:S75T;ENSP00000365440:S75T;ENSP00000365439:S75T;ENSP00000317788:S75T;ENSP00000353552:S75T;ENSP00000409456:S75T	ENSP00000317788:S75T	S	-	2	0	HNRNPK	85780230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	2.861000	0.98227	0.650000	0.86243	AGT	HNRNPK	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000165119		0.483	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	62	0.00	0	C			86590410	86590410	-1	no_errors	ENST00000376263	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	G
HNRNPR	10236	genome.wustl.edu	37	1	23648138	23648138	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:23648138G>A	ENST00000374612.1	-	7	817	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131C|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194C|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232C|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72C|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93C|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232C	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	232	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTACCAGGGCGAATTTCATAG	0.378																																						dbGAP											0													109.0	115.0	113.0					1																	23648138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.694C>T	1.37:g.23648138G>A	ENSP00000363741:p.Arg232Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R232C	ENST00000374612.1	37	c.694	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853128	0.91355	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.36157	1.92;1.9;1.9;1.27;2.74	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.981;1.0	P;D;D;D;P;D	0.91635	0.866;0.999;0.999;0.998;0.734;0.997	T	0.63686	-0.6581	10	0.87932	D	0	-1.4045	16.9396	0.86213	0.0:0.0:1.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	C	232;232;232;194;72	ENSP00000363745:R232C;ENSP00000363741:R232C;ENSP00000304405:R232C;ENSP00000392799:R194C;ENSP00000415042:R72C	ENSP00000304405:R232C	R	-	1	0	HNRNPR	23520725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.685000	0.84117	2.430000	0.82344	0.561000	0.74099	CGC	HNRNPR	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000125944		0.378	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	238	0.00	0	G	NM_005826		23648138	23648138	-1	no_errors	ENST00000374616	ensembl	human	known	69_37n	missense	169	20.56	44	SNP	1.000	A
HPS4	89781	genome.wustl.edu	37	22	26868817	26868817	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:26868817G>T	ENST00000398145.2	-	5	981	c.365C>A	c.(364-366)cCt>cAt	p.P122H	HPS4_ENST00000398141.1_Missense_Mutation_p.P117H|HPS4_ENST00000336873.5_Missense_Mutation_p.P122H|HPS4_ENST00000402105.3_Missense_Mutation_p.P117H	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	122					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TAGGGAAACAGGTCCATTGTA	0.468									Hermansky-Pudlak syndrome																													dbGAP											0													117.0	120.0	119.0					22																	26868817		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.365C>A	22.37:g.26868817G>T	ENSP00000381213:p.Pro122His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	NULL	p.P117H	ENST00000398145.2	37	c.350	CCDS13835.1	22	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410667	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	5.03	5.03	0.67393	.	0.122718	0.56097	D	0.000023	D	0.94115	0.8113	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94512	0.7719	10	0.72032	D	0.01	-21.3641	17.0923	0.86625	0.0:0.0:1.0:0.0	.	122;122;117	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	H	122;117;117;122;122;122	ENSP00000381213:P122H;ENSP00000381210:P117H;ENSP00000384185:P117H;ENSP00000338457:P122H;ENSP00000415081:P122H	ENSP00000325840:P122H	P	-	2	0	HPS4	25198817	1.000000	0.71417	0.439000	0.26833	0.484000	0.33280	7.861000	0.87004	2.621000	0.88768	0.655000	0.94253	CCT	HPS4	-	NULL	ENSG00000100099		0.468	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	155	0.00	0	G	NM_022081		26868817	26868817	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	missense	103	17.60	22	SNP	0.995	T
HRC	3270	genome.wustl.edu	37	19	49657760	49657760	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49657760T>A	ENST00000252825.4	-	1	921	c.735A>T	c.(733-735)gaA>gaT	p.E245D	HRC_ENST00000595625.1_Missense_Mutation_p.E245D	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	245	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		catcgtcatcttcttcatGGC	0.517																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													121.0	88.0	99.0					19																	49657760		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.735A>T	19.37:g.49657760T>A	ENSP00000252825:p.Glu245Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E245D	ENST00000252825.4	37	c.735	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	t	6.066	0.380452	0.11466	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.06933	3.24	3.24	-6.14	0.02111	.	.	.	.	.	T	0.04815	0.0130	L	0.33339	1.005	0.09310	N	0.999998	B	0.09022	0.002	B	0.12156	0.007	T	0.42865	-0.9426	9	0.23302	T	0.38	-0.7749	4.2931	0.10888	0.564:0.202:0.0:0.234	.	245	P23327	SRCH_HUMAN	D	245;215	ENSP00000252825:E245D	ENSP00000252825:E245D	E	-	3	2	HRC	54349572	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	-0.130000	0.10498	-1.240000	0.02529	-0.752000	0.03492	GAA	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	91	0.00	0	T	NM_002152		49657760	49657760	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.204	A
HS3ST3A1	9955	genome.wustl.edu	37	17	13399528	13399529	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:13399528_13399529insA	ENST00000284110.1	-	2	2003_2004	c.1206_1207insT	c.(1204-1209)tttggcfs	p.G403fs	HS3ST3A1_ENST00000578576.1_Frame_Shift_Ins_p.G201fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	403					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCATCCCAGCCAAAGTCGTGCC	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.1207dupT	17.37:g.13399531_13399531dupA	ENSP00000284110:p.Gly403fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N2	Frame_Shift_Ins	INS	pfam_Sulfotransferase_dom	p.G402fs	ENST00000284110.1	37	c.1207_1206	CCDS11165.1	17																																																																																			HS3ST3A1	-	NULL	ENSG00000153976		0.431	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	221	0.00	0	-	NM_006042		13399528	13399529	-1	no_errors	ENST00000284110	ensembl	human	known	69_37n	frame_shift_ins	125	35.57	69	INS	1.000:0.023	A
HSD17B2	3294	genome.wustl.edu	37	16	82069191	82069191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:82069191delT	ENST00000199936.4	+	1	355	c.162delT	c.(160-162)cctfs	p.P54fs		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	54					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCTGTCCCCTTTTTGGGGCT	0.512																																						dbGAP											0													139.0	96.0	110.0					16																	82069191		2201	4300	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.162delT	16.37:g.82069191delT	ENSP00000199936:p.Pro54fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T4	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.W56fs	ENST00000199936.4	37	c.162	CCDS10936.1	16																																																																																			HSD17B2	-	NULL	ENSG00000086696		0.512	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B2	HGNC	protein_coding	OTTHUMT00000269057.2	94	0.00	0	T	NM_002153		82069191	82069191	+1	no_errors	ENST00000199936	ensembl	human	known	69_37n	frame_shift_del	51	24.66	18	DEL	0.001	-
HSPA14	51182	genome.wustl.edu	37	10	14912635	14912635	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:14912635C>T	ENST00000378372.3	+	13	1659	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	474					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R474C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGGATTACGTGATATATT	0.264																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											63.0	64.0	64.0					10																	14912635		2201	4287	6488	-	-	-	SO:0001583	missense	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1420C>T	10.37:g.14912635C>T	ENSP00000367623:p.Arg474Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R474C	ENST00000378372.3	37	c.1420	CCDS7103.1	10	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652368	0.88056	.	.	ENSG00000187522	ENST00000378372	T	0.01015	5.44	5.41	5.41	0.78517	.	0.193739	0.53938	D	0.000045	T	0.01592	0.0051	N	0.22421	0.69	0.80722	D	1	D	0.58620	0.983	P	0.47376	0.545	T	0.72114	-0.4388	10	0.87932	D	0	-5.9933	19.5461	0.95297	0.0:1.0:0.0:0.0	.	474	Q0VDF9	HSP7E_HUMAN	C	474	ENSP00000367623:R474C	ENSP00000367623:R474C	R	+	1	0	HSPA14	14952641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.757000	0.68766	2.688000	0.91661	0.655000	0.94253	CGT	HSPA14	-	pfam_Hsp_70_fam	ENSG00000187522		0.264	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	41	0.00	0	C	NM_016299		14912635	14912635	+1	no_errors	ENST00000378372	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	1.000	T
HSPBAP1	79663	genome.wustl.edu	37	3	122478177	122478177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:122478177C>A	ENST00000306103.2	-	4	606	c.463G>T	c.(463-465)Gga>Tga	p.G155*	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Nonsense_Mutation_p.G155*	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	155	Interaction with HSPB1. {ECO:0000250}.|JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CCATTTCTTCCAGGAAACCCG	0.438																																						dbGAP											0													146.0	130.0	135.0					3																	122478177		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.463G>T	3.37:g.122478177C>A	ENSP00000302562:p.Gly155*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1	p.G155*	ENST00000306103.2	37	c.463	CCDS3017.1	3	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824295	0.90955	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	.	.	.	5.03	5.03	0.67393	.	0.102550	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5268	0.87802	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000302562:G155X	G	-	1	0	HSPBAP1	123960867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.630000	0.89119	0.561000	0.74099	GGA	HSPBAP1	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000169087		0.438	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPBAP1	HGNC	protein_coding	OTTHUMT00000356161.1	124	0.00	0	C	NM_024610		122478177	122478177	-1	no_errors	ENST00000306103	ensembl	human	known	69_37n	nonsense	96	24.41	31	SNP	1.000	A
HTR1B	3351	genome.wustl.edu	37	6	78172609	78172609	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:78172609G>A	ENST00000369947.2	-	1	881	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	171					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCACACCAGCGCGATCATGAC	0.612																																						dbGAP											0													69.0	72.0	71.0					6																	78172609		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.512C>T	6.37:g.78172609G>A	ENSP00000358963:p.Ala171Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAY7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.A171V	ENST00000369947.2	37	c.512	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889592	0.33348	.	.	ENSG00000135312	ENST00000369947	T	0.38077	1.16	5.09	-2.12	0.07165	GPCR, rhodopsin-like superfamily (1);	0.251380	0.38837	N	0.001547	T	0.11024	0.0269	L	0.39147	1.195	0.47994	D	0.99956	B	0.11235	0.004	B	0.11329	0.006	T	0.17837	-1.0356	9	.	.	.	.	11.445	0.50118	0.5025:0.0:0.4975:0.0	.	171	P28222	5HT1B_HUMAN	V	171	ENSP00000358963:A171V	.	A	-	2	0	HTR1B	78229328	0.957000	0.32711	0.937000	0.37676	0.992000	0.81027	1.577000	0.36515	-0.450000	0.07107	0.555000	0.69702	GCG	HTR1B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000135312		0.612	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	44	0.00	0	G	NM_000863		78172609	78172609	-1	no_errors	ENST00000369947	ensembl	human	known	69_37n	missense	18	30.77	8	SNP	0.951	A
HUWE1	10075	genome.wustl.edu	37	X	53675211	53675211	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:53675211T>C	ENST00000342160.3	-	4	545	c.88A>G	c.(88-90)Aat>Gat	p.N30D	HUWE1_ENST00000262854.6_Missense_Mutation_p.N30D|HUWE1_ENST00000218328.8_Missense_Mutation_p.N30D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	30					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTCATCATTACAAACTTTG	0.398																																						dbGAP											0													131.0	103.0	112.0					X																	53675211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.88A>G	X.37:g.53675211T>C	ENSP00000340648:p.Asn30Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.N30D	ENST00000342160.3	37	c.88	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568863	0.45798	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528;ENST00000446750	T;T;T	0.40476	1.34;1.34;1.03	5.59	5.59	0.84812	.	0.110386	0.64402	D	0.000012	T	0.18759	0.0450	N	0.01874	-0.695	0.31652	N	0.646631	B	0.29341	0.242	B	0.21708	0.036	T	0.14200	-1.0481	10	0.35671	T	0.21	.	13.6877	0.62526	0.0:0.0:0.0:1.0	.	30	Q7Z6Z7	HUWE1_HUMAN	D	30	ENSP00000340648:N30D;ENSP00000262854:N30D;ENSP00000218328:N30D	ENSP00000218328:N30D	N	-	1	0	HUWE1	53691936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.780000	0.55386	1.876000	0.54355	0.486000	0.48141	AAT	HUWE1	-	NULL	ENSG00000086758		0.398	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	59	0.00	0	T	XM_497119		53675211	53675211	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	1.000	C
HYOU1	10525	genome.wustl.edu	37	11	118922240	118922240	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:118922240C>T	ENST00000404233.3	-	13	1560	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	HYOU1_ENST00000529972.1_Missense_Mutation_p.R479H|HYOU1_ENST00000525859.1_Missense_Mutation_p.R479H|HYOU1_ENST00000543287.1_Missense_Mutation_p.R392H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GATGACTTTGCGTTGAGGGTA	0.552																																						dbGAP											0													220.0	180.0	193.0					11																	118922240		2200	4295	6495	-	-	-	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1436G>A	11.37:g.118922240C>T	ENSP00000384144:p.Arg479His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R479H	ENST00000404233.3	37	c.1436	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.288617	0.95517	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.994;0.994	P;D;P;P	0.69479	0.888;0.964;0.851;0.851	T	0.02743	-1.1116	10	0.72032	D	0.01	-12.6882	19.0611	0.93093	0.0:1.0:0.0:0.0	.	470;523;479;479	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	H	479;470;479;479;328;479;522;392;479	ENSP00000384144:R479H;ENSP00000437313:R479H;ENSP00000433397:R479H;ENSP00000442727:R392H;ENSP00000431874:R479H	ENSP00000278752:R470H	R	-	2	0	HYOU1	118427450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.735000	0.93741	0.655000	0.94253	CGC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.552	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	62	0.00	0	C	NM_006389		118922240	118922240	-1	no_errors	ENST00000404233	ensembl	human	known	69_37n	missense	20	25.00	7	SNP	1.000	T
IBTK	25998	genome.wustl.edu	37	6	82933863	82933863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:82933863C>T	ENST00000306270.7	-	7	1414	c.865G>A	c.(865-867)Gtt>Att	p.V289I	IBTK_ENST00000510291.1_Missense_Mutation_p.V289I|IBTK_ENST00000503631.1_Missense_Mutation_p.V289I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	289					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.V289I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCTGCTGCAACGCCAATGATT	0.348																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											136.0	127.0	130.0					6																	82933863		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.865G>A	6.37:g.82933863C>T	ENSP00000305721:p.Val289Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.V289I	ENST00000306270.7	37	c.865	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	c	18.91	3.723757	0.68959	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.79141	-1.24;-1.24;-1.24	5.2	4.33	0.51752	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.122336	0.53938	N	0.000044	T	0.73513	0.3596	L	0.31157	0.91	0.54753	D	0.999983	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;P;P;P	0.81914	0.995;0.906;0.891;0.906	T	0.73257	-0.4040	10	0.28530	T	0.3	-9.8329	13.9668	0.64213	0.0:0.9262:0.0:0.0738	.	289;289;289;289	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	289	ENSP00000305721:V289I;ENSP00000422762:V289I;ENSP00000426405:V289I	ENSP00000305721:V289I	V	-	1	0	IBTK	82990582	1.000000	0.71417	0.957000	0.39632	0.880000	0.50808	5.755000	0.68750	1.199000	0.43173	-0.642000	0.03964	GTT	IBTK	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000005700		0.348	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	172	0.00	0	C	NM_015525		82933863	82933863	-1	no_errors	ENST00000306270	ensembl	human	known	69_37n	missense	132	32.31	63	SNP	1.000	T
IFT172	26160	genome.wustl.edu	37	2	27672430	27672430	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:27672430C>A	ENST00000260570.3	-	38	4264		c.e38-1			NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172						bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTCTTCATACCTGTGAAGATG	0.443																																						dbGAP											0													104.0	100.0	102.0					2																	27672430		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4161-1G>T	2.37:g.27672430C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Splice_Site	SNP	-	e38-1	ENST00000260570.3	37	c.4161-1	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986005	0.74589	.	.	ENSG00000138002	ENST00000260570	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2066	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT172	27525934	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.651000	0.74372	2.647000	0.89833	0.561000	0.74099	.	IFT172	-	-	ENSG00000138002		0.443	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	388	0.00	0	C	NM_015662	Intron	27672430	27672430	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	splice_site	248	19.61	61	SNP	1.000	A
IFIH1	64135	genome.wustl.edu	37	2	163134716	163134716	+	Splice_Site	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:163134716delT	ENST00000263642.2	-	9	2159	c.1764delA	c.(1762-1764)aaa>aa	p.K588fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	588					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTAAATTACCTTTTTTTTCCA	0.328																																						dbGAP											0													124.0	120.0	121.0					2																	163134716		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1765+1A>-	2.37:g.163134716delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Del	DEL	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A589fs	ENST00000263642.2	37	c.1764	CCDS2217.1	2																																																																																			IFIH1	-	superfamily_ARM-type_fold	ENSG00000115267		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	103	0.00	0	T	NM_022168	Frame_Shift_Del	163134716	163134716	-1	no_errors	ENST00000263642	ensembl	human	known	69_37n	frame_shift_del	95	15.18	17	DEL	1.000	-
ICOS	29851	genome.wustl.edu	37	2	204820526	204820526	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:204820526T>C	ENST00000316386.6	+	2	293	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	ICOS_ENST00000435193.1_Missense_Mutation_p.S76P	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	76	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						AAACACAGTGTCCATTAAGAG	0.393																																						dbGAP											0													160.0	150.0	154.0					2																	204820526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.226T>C	2.37:g.204820526T>C	ENSP00000319476:p.Ser76Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W8	Missense_Mutation	SNP	NULL	p.S76P	ENST00000316386.6	37	c.226	CCDS2363.1	2	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351577	0.24512	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	T;T	0.29397	1.57;1.57	5.45	4.15	0.48705	Immunoglobulin-like fold (1);	0.316296	0.26851	N	0.022172	T	0.39627	0.1085	L	0.57536	1.79	0.09310	N	1	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.56700	0.804;0.804;0.804	T	0.16482	-1.0401	10	0.34782	T	0.22	-9.7934	7.5226	0.27637	0.2368:0.0:0.0:0.7632	.	76;76;76	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	P	76	ENSP00000319476:S76P;ENSP00000415951:S76P	ENSP00000319476:S76P	S	+	1	0	ICOS	204528771	0.231000	0.23751	0.038000	0.18304	0.037000	0.13140	0.833000	0.27504	2.190000	0.69967	0.533000	0.62120	TCC	ICOS	-	NULL	ENSG00000163600		0.393	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICOS	HGNC	protein_coding	OTTHUMT00000256369.1	225	0.00	0	T	NM_012092		204820526	204820526	+1	no_errors	ENST00000316386	ensembl	human	known	69_37n	missense	133	40.89	92	SNP	0.005	C
IFT81	28981	genome.wustl.edu	37	12	110655886	110655886	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:110655886A>G	ENST00000242591.5	+	19	2392	c.1886A>G	c.(1885-1887)cAt>cGt	p.H629R	IFT81_ENST00000552912.1_Missense_Mutation_p.H629R	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	629					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CGAGAAAGTCATGGTCCAAAT	0.308																																						dbGAP											0													93.0	83.0	86.0					12																	110655886		1829	4088	5917	-	-	-	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1886A>G	12.37:g.110655886A>G	ENSP00000242591:p.His629Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.H629R	ENST00000242591.5	37	c.1886	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	.	22.0	4.233623	0.79688	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	5.22	0.72569	.	0.044425	0.85682	D	0.000000	T	0.64416	0.2596	M	0.72118	2.19	0.58432	D	0.999995	P	0.47677	0.899	P	0.49502	0.613	T	0.62637	-0.6812	9	0.21014	T	0.42	-19.5183	15.44	0.75176	1.0:0.0:0.0:0.0	.	629	Q8WYA0	IFT81_HUMAN	R	629;629;60	.	ENSP00000242591:H629R	H	+	2	0	IFT81	109140269	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.798000	0.91888	2.105000	0.64084	0.472000	0.43445	CAT	IFT81	-	NULL	ENSG00000122970		0.308	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	64	0.00	0	A	NM_014055		110655886	110655886	+1	no_errors	ENST00000242591	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	G
IGF1R	3480	genome.wustl.edu	37	15	99452113	99452113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:99452113delG	ENST00000268035.6	+	6	2058	c.1447delG	c.(1447-1449)gggfs	p.G483fs	IGF1R_ENST00000558762.1_Frame_Shift_Del_p.G483fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	483					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGGAACAACGGGGAGAGAGC	0.512																																						dbGAP											0													93.0	73.0	80.0					15																	99452113		2196	4297	6493	-	-	-	SO:0001589	frameshift_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1447delG	15.37:g.99452113delG	ENSP00000268035:p.Gly483fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E484fs	ENST00000268035.6	37	c.1447	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.512	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	44	0.00	0	G	NM_000875		99452113	99452113	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	frame_shift_del	21	31.25	10	DEL	1.000	-
IGKV1D-37	28894	genome.wustl.edu	37	2	89923769	89923769	+	RNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:89923769C>T	ENST00000509129.1	+	0	96									immunoglobulin kappa variable 1D-37 (non-functional)																		CTCCATCCTCCCTGTCTGCAT	0.448																																						dbGAP											0																																										-	-	-			0			X71893		2p11.2	2012-02-10	2008-09-09		ENSG00000250036	ENSG00000250036		"""Immunoglobulins / IGK locus"""	5755	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-37"""				Standard	NG_000833		Approved	IGKV1D37, O4			OTTHUMG00000159960		2.37:g.89923769C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S32	ENST00000509129.1	37	c.96		2																																																																																			IGKV1D-37	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000250036		0.448	IGKV1D-37-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-37	HGNC	IG_V_gene	OTTHUMT00000358517.1	25	0.00	0	C	NG_000833		89923769	89923769	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000509129	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.001	T
IGKV2D-26	28884	genome.wustl.edu	37	2	90025293	90025293	+	RNA	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:90025293G>A	ENST00000390268.2	+	0	171									immunoglobulin kappa variable 2D-26																		GGTCTAGTCAGAGCCTCCTGC	0.502																																						dbGAP											0																																										-	-	-			0			X12689		2p11.2	2012-02-08			ENSG00000211623	ENSG00000211623		"""Immunoglobulins / IGK locus"""	5798	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151606		2.37:g.90025293G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q47	ENST00000390268.2	37	c.141		2																																																																																			IGKV2D-26	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211623		0.502	IGKV2D-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-26	HGNC	IG_V_gene	OTTHUMT00000323278.2	144	0.00	0	G	NG_000833		90025293	90025293	+1	no_stop_codon	ENST00000390268	ensembl	human	known	69_37n	silent	105	19.23	25	SNP	0.099	A
IGFBP5	3488	genome.wustl.edu	37	2	217542937	217542937	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:217542937G>A	ENST00000233813.4	-	3	1334	c.585C>T	c.(583-585)caC>caT	p.H195H		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	195	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCTCCATGTGTCTGCGGC	0.627																																						dbGAP											0													67.0	63.0	64.0					2																	217542937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.585C>T	2.37:g.217542937G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U0A3	Silent	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-5	p.H195	ENST00000233813.4	37	c.585	CCDS2405.1	2																																																																																			IGFBP5	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata	ENSG00000115461		0.627	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP5	HGNC	protein_coding	OTTHUMT00000256674.2	52	0.00	0	G	NM_000599		217542937	217542937	-1	no_errors	ENST00000233813	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	1.000	A
IGLV3-16	28799	genome.wustl.edu	37	22	23090202	23090202	+	RNA	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:23090202delA	ENST00000390311.2	+	0	179									immunoglobulin lambda variable 3-16																		AAGCATTGCCAAAAAAATATG	0.537																																						dbGAP											0													84.0	88.0	87.0					22																	23090202		1897	4139	6036	-	-	-			0			X97471		22q11.2	2012-02-08			ENSG00000211665	ENSG00000211665		"""Immunoglobulins / IGL locus"""	5901	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151231		22.37:g.23090202delA		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K49fs	ENST00000390311.2	37	c.141		22																																																																																			IGLV3-16	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211665		0.537	IGLV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV3-16	HGNC	IG_V_gene	OTTHUMT00000321835.1	211	0.47	1	A	NG_000002		23090202	23090202	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390311	ensembl	human	known	69_37n	frame_shift_del	125	15.44	23	DEL	0.000	-
IGSF10	285313	genome.wustl.edu	37	3	151165209	151165209	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:151165209C>T	ENST00000282466.3	-	4	2559	c.2560G>A	c.(2560-2562)Gaa>Aaa	p.E854K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	854					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGGGTTCTTCAGGTGGTAGT	0.383																																						dbGAP											0													195.0	205.0	202.0					3																	151165209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2560G>A	3.37:g.151165209C>T	ENSP00000282466:p.Glu854Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E854K	ENST00000282466.3	37	c.2560	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625028	0.28889	.	.	ENSG00000152580	ENST00000282466	T	0.69685	-0.42	5.07	3.25	0.37280	.	0.276616	0.25006	N	0.033863	T	0.51669	0.1688	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36529	-0.9744	10	0.30854	T	0.27	.	9.3056	0.37874	0.0:0.7067:0.0:0.2933	.	854	Q6WRI0	IGS10_HUMAN	K	854	ENSP00000282466:E854K	ENSP00000282466:E854K	E	-	1	0	IGSF10	152647899	0.001000	0.12720	0.015000	0.15790	0.021000	0.10359	0.055000	0.14229	0.514000	0.28300	-0.224000	0.12420	GAA	IGSF10	-	NULL	ENSG00000152580		0.383	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	529	0.19	1	C	NM_178822		151165209	151165209	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	523	17.30	110	SNP	0.117	T
IKBKAP	8518	genome.wustl.edu	37	9	111668705	111668705	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:111668705A>G	ENST00000374647.5	-	14	1828	c.1521T>C	c.(1519-1521)acT>acC	p.T507T	IKBKAP_ENST00000537196.1_Silent_p.T158T	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	507					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTCAATCCAAGTGAGAAGGC	0.413																																						dbGAP											0													142.0	131.0	135.0					9																	111668705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1521T>C	9.37:g.111668705A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.T507	ENST00000374647.5	37	c.1521	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.413	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	291	0.00	0	A			111668705	111668705	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	silent	216	28.24	85	SNP	1.000	G
IL12B	3593	genome.wustl.edu	37	5	158749505	158749505	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:158749505T>C	ENST00000231228.2	-	4	834	c.379A>G	c.(379-381)Acc>Gcc	p.T127A		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	127					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAGAAAGGTCTTATTTTTG	0.383																																						dbGAP											0													81.0	81.0	81.0					5																	158749505		2203	4300	6503	-	-	-	SO:0001583	missense	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.379A>G	5.37:g.158749505T>C	ENSP00000231228:p.Thr127Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T127A	ENST00000231228.2	37	c.379	CCDS4346.1	5	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238743	0.58995	.	.	ENSG00000113302	ENST00000231228	T	0.17854	2.25	5.87	5.87	0.94306	Fibronectin, type III (1);Interleukin-12, beta subunit, central domain (1);Immunoglobulin-like fold (1);	0.492010	0.25447	N	0.030606	T	0.21186	0.0510	M	0.65498	2.005	0.34044	D	0.655367	B	0.30542	0.284	B	0.35413	0.202	T	0.19386	-1.0307	10	0.11182	T	0.66	-11.4845	12.9575	0.58438	0.0:0.0:0.0:1.0	.	127	P29460	IL12B_HUMAN	A	127	ENSP00000231228:T127A	ENSP00000231228:T127A	T	-	1	0	IL12B	158682083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.766000	0.38491	2.371000	0.80710	0.533000	0.62120	ACC	IL12B	-	pirsf_IL_12_beta,pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3	ENSG00000113302		0.383	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	85	0.00	0	T	NM_002187		158749505	158749505	-1	no_errors	ENST00000231228	ensembl	human	known	69_37n	missense	25	51.92	27	SNP	1.000	C
IL12RB2	3595	genome.wustl.edu	37	1	67793894	67793895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:67793894_67793895insA	ENST00000262345.1	+	5	1131_1132	c.491_492insA	c.(490-495)ccaaaafs	p.PK164fs	IL12RB2_ENST00000541374.1_Frame_Shift_Ins_p.PK164fs|IL12RB2_ENST00000371000.1_Frame_Shift_Ins_p.PK164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Ins_p.PK164fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	164	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTAAGTGGACCAAAAAATTTAA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.497dupA	1.37:g.67793900_67793900dupA	ENSP00000262345:p.Pro164fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N166fs	ENST00000262345.1	37	c.491_492	CCDS638.1	1																																																																																			IL12RB2	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081985		0.347	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	240	0.00	0	-	NM_001559		67793894	67793895	+1	no_errors	ENST00000262345	ensembl	human	known	69_37n	frame_shift_ins	232	17.44	49	INS	0.974:0.061	A
IL1R2	7850	genome.wustl.edu	37	2	102641101	102641101	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000441002.1_Silent_p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GCGCCTACCCGGGAGGCCGCG	0.572																																					Pancreas(106;189 1628 2302 5133 12295)	dbGAP											0													54.0	51.0	52.0					2																	102641101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.858G>A	2.37:g.102641101G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II	p.P286	ENST00000332549.3	37	c.858	CCDS2054.1	2																																																																																			IL1R2	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like,prints_Interleukin-1_rcpt_II	ENSG00000115590		0.572	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1	46	0.00	0	G	NM_004633		102641101	102641101	+1	no_errors	ENST00000332549	ensembl	human	known	69_37n	silent	31	37.25	19	SNP	0.000	A
IL31RA	133396	genome.wustl.edu	37	5	55168270	55168270	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:55168270G>A	ENST00000447346.2	+	4	510	c.445G>A	c.(445-447)Gag>Aag	p.E149K	IL31RA_ENST00000396836.2_Missense_Mutation_p.E149K|IL31RA_ENST00000354961.4_Missense_Mutation_p.E130K|IL31RA_ENST00000490985.1_Missense_Mutation_p.E7K|IL31RA_ENST00000297015.3_Missense_Mutation_p.E7K|IL31RA_ENST00000396834.1_Missense_Mutation_p.E130K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E149K	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	117	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CTGGAGATTAGAGAACATAGG	0.348																																						dbGAP											0													85.0	88.0	87.0					5																	55168270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.445G>A	5.37:g.55168270G>A	ENSP00000415900:p.Glu149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E149K	ENST00000447346.2	37	c.445	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369370	0.05069	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	D;D;D;D;T;T;D	0.83075	-1.68;-1.68;-1.68;-1.68;0.49;0.49;-1.68	4.35	0.145	0.14829	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.262390	0.05619	U	0.579635	T	0.67031	0.2850	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.25955	0.065;0.053;0.032;0.053;0.138	B;B;B;B;B	0.18871	0.023;0.022;0.014;0.014;0.023	T	0.51655	-0.8678	10	0.06236	T	0.91	-1.6917	3.6595	0.08233	0.3287:0.1926:0.4787:0.0	.	117;149;130;149;149	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	K	149;130;149;149;7;7;130	ENSP00000380048:E149K;ENSP00000380046:E130K;ENSP00000415900:E149K;ENSP00000351935:E149K;ENSP00000297015:E7K;ENSP00000427533:E7K;ENSP00000347047:E130K	ENSP00000297015:E7K	E	+	1	0	IL31RA	55204027	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.022000	0.12480	0.193000	0.20303	0.655000	0.94253	GAG	IL31RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000164509		0.348	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	157	0.00	0	G	NM_139017		55168270	55168270	+1	no_errors	ENST00000447346	ensembl	human	known	69_37n	missense	126	11.27	16	SNP	0.000	A
IL3	3562	genome.wustl.edu	37	5	131398386	131398386	+	Missense_Mutation	SNP	G	G	T	rs577895795		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:131398386G>T	ENST00000296870.2	+	5	539	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	121					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TATCAAGGACGGTGACTGGAA	0.483											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		21683	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													143.0	140.0	141.0					5																	131398386		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.361G>T	5.37:g.131398386G>T	ENSP00000296870:p.Gly121Cys	Somatic	1587	WXS	Illumina GAIIx	Phase_IV	Q6GS87	Missense_Mutation	SNP	pfam_Interleukin_3,superfamily_4_helix_cytokine-like_core,pirsf_Interleukin_3,prints_Interleukin_3	p.G121C	ENST00000296870.2	37	c.361	CCDS4149.1	5	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115639	0.37339	.	.	ENSG00000164399	ENST00000296870	T	0.50813	0.73	3.38	-2.1	0.07210	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.957530	0.01516	N	0.018143	T	0.38825	0.1055	L	0.47716	1.5	0.09310	N	1	P	0.52061	0.95	B	0.42692	0.395	T	0.34850	-0.9812	10	0.72032	D	0.01	.	0.4553	0.00508	0.3365:0.1619:0.3075:0.194	.	121	P08700	IL3_HUMAN	C	121	ENSP00000296870:G121C	ENSP00000296870:G121C	G	+	1	0	IL3	131426285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.089000	0.03376	-0.480000	0.06803	-0.300000	0.09419	GGT	IL3	-	pfam_Interleukin_3,superfamily_4_helix_cytokine-like_core,pirsf_Interleukin_3	ENSG00000164399		0.483	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	213	0.00	0	G	NM_000588		131398386	131398386	+1	no_errors	ENST00000296870	ensembl	human	known	69_37n	missense	154	19.37	37	SNP	0.000	T
INPP4A	3631	genome.wustl.edu	37	2	99170797	99170797	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:99170797G>A	ENST00000523221.1	+	14	1426	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	INPP4A_ENST00000409016.4_Missense_Mutation_p.A476T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.A476T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A476T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A471T|INPP4A_ENST00000074304.5_Missense_Mutation_p.A476T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	476					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGGGCTGAACGCTGCACGGCC	0.607																																						dbGAP											0													41.0	44.0	43.0					2																	99170797		2184	4284	6468	-	-	-	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1426G>A	2.37:g.99170797G>A	ENSP00000427722:p.Ala476Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.A476T	ENST00000523221.1	37	c.1426	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439151	0.25900	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.33339	1.005	0.80722	D	1	D;D;D;D	0.63880	0.99;0.992;0.993;0.993	P;P;P;P	0.56960	0.587;0.684;0.81;0.81	T	0.02179	-1.1200	10	0.14252	T	0.57	-22.7897	18.0725	0.89415	0.0:0.0:1.0:0.0	.	476;476;476;471	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	T	476;471;476;476;476;476	ENSP00000386704:A476T;ENSP00000386777:A471T;ENSP00000074304:A476T;ENSP00000442149:A476T;ENSP00000387294:A476T;ENSP00000427722:A476T	ENSP00000074304:A476T	A	+	1	0	INPP4A	98537229	1.000000	0.71417	0.464000	0.27143	0.245000	0.25701	5.423000	0.66458	2.755000	0.94549	0.655000	0.94253	GCT	INPP4A	-	NULL	ENSG00000040933		0.607	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	34	0.00	0	G	NM_001566		99170797	99170797	+1	no_errors	ENST00000074304	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.995	A
INO80D	54891	genome.wustl.edu	37	2	206921318	206921318	+	Nonsense_Mutation	SNP	G	G	A	rs368120505		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:206921318G>A	ENST00000403263.1	-	4	972	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	190					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGCTCTTGTCGAACTTTTAAA	0.502																																						dbGAP											0													45.0	49.0	47.0					2																	206921318		2052	4188	6240	-	-	-	SO:0001587	stop_gained	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.568C>T	2.37:g.206921318G>A	ENSP00000384198:p.Arg190*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP	NULL	p.R190*	ENST00000403263.1	37	c.568	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.938763	0.99010	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	.	.	.	5.7	5.7	0.88788	.	0.239998	0.43747	D	0.000527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	.	.	.	X	190;190;85	.	ENSP00000233270:R190X	R	-	1	2	INO80D	206629563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.695000	0.91970	0.561000	0.74099	CGA	INO80D	-	NULL	ENSG00000114933		0.502	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	51	0.00	0	G	NM_017759		206921318	206921318	-1	no_errors	ENST00000403263	ensembl	human	known	69_37n	nonsense	26	50.94	27	SNP	1.000	A
INPP5F	22876	genome.wustl.edu	37	10	121567481	121567481	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:121567481T>C	ENST00000361976.2	+	13	1644	c.1478T>C	c.(1477-1479)tTa>tCa	p.L493S		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	800	5-phosphatase.		R -> W (in DD2; dbSNP:rs137853846). {ECO:0000269|PubMed:17384968}.		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)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAACAGCCATTACCTGTGAAA	0.423																																						dbGAP											0													109.0	101.0	104.0					10																	121567481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1478T>C	10.37:g.121567481T>C	ENSP00000354519:p.Leu493Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.L493S	ENST00000361976.2	37	c.1478	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904679	0.72868	.	.	ENSG00000198825	ENST00000361976	T	0.28454	1.61	5.55	4.43	0.53597	Synaptojanin, N-terminal (1);	0.079085	0.52532	D	0.000068	T	0.51295	0.1666	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.51076	-0.8751	10	0.51188	T	0.08	-12.1481	11.2508	0.49024	0.0:0.0712:0.0:0.9288	.	493	Q9Y2H2	SAC2_HUMAN	S	493	ENSP00000354519:L493S	ENSP00000354519:L493S	L	+	2	0	INPP5F	121557471	1.000000	0.71417	0.360000	0.25837	0.993000	0.82548	7.946000	0.87746	1.064000	0.40671	0.477000	0.44152	TTA	INPP5F	-	pfscan_Syja_N	ENSG00000198825		0.423	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	124	0.00	0	T	NM_014937		121567481	121567481	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	0.993	C
INPP5J	27124	genome.wustl.edu	37	22	31522468	31522468	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:31522468G>A	ENST00000331075.5	+	3	1427	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	INPP5J_ENST00000412277.2_Missense_Mutation_p.A393T|INPP5J_ENST00000404390.3_Missense_Mutation_p.A92T|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000405300.1_Missense_Mutation_p.A93T|INPP5J_ENST00000400294.2_Missense_Mutation_p.A93T	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	460	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGACATGATCGCCATAGGGTG	0.662																																						dbGAP											0													109.0	115.0	113.0					22																	31522468		2133	4224	6357	-	-	-	SO:0001583	missense	0			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1378G>A	22.37:g.31522468G>A	ENSP00000333262:p.Ala460Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.A460T	ENST00000331075.5	37	c.1378		22	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418749	0.83559	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	4.8	4.8	0.61643	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.133350	0.53938	D	0.000047	D	0.97939	0.9322	M	0.88181	2.935	0.37609	D	0.920876	D;D	0.76494	0.999;0.986	D;P	0.68192	0.956;0.847	D	0.99940	1.1397	10	0.59425	D	0.04	.	18.2586	0.90026	0.0:0.0:1.0:0.0	.	460;92	Q15735;Q15735-3	PI5PA_HUMAN;.	T	460;393;25;93;93;92	ENSP00000333262:A460T;ENSP00000392924:A393T;ENSP00000406570:A25T;ENSP00000383150:A93T;ENSP00000384596:A93T;ENSP00000384534:A92T	ENSP00000333262:A460T	A	+	1	0	INPP5J	29852468	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.141000	0.64814	2.395000	0.81488	0.561000	0.74099	GCC	INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000185133		0.662	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	87	0.00	0	G	NM_001002837		31522468	31522468	+1	no_errors	ENST00000331075	ensembl	human	known	69_37n	missense	42	23.21	13	SNP	1.000	A
INPPL1	3636	genome.wustl.edu	37	11	71942195	71942195	+	Frame_Shift_Del	DEL	G	G	-	rs372927367		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:71942195delG	ENST00000298229.2	+	12	1663	c.1459delG	c.(1459-1461)gggfs	p.G488fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.G246fs|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.G246fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	488					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTACTGCGCGGGGGCCTCAA	0.602																																						dbGAP											0													112.0	122.0	119.0					11																	71942195		2197	4292	6489	-	-	-	SO:0001589	frameshift_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1459delG	11.37:g.71942195delG	ENSP00000298229:p.Gly488fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.G488fs	ENST00000298229.2	37	c.1459	CCDS8213.1	11																																																																																			INPPL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000165458		0.602	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	120	0.00	0	G	NM_001567		71942195	71942195	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	frame_shift_del	39	21.15	11	DEL	0.999	-
INPPL1	3636	genome.wustl.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:71948748delC	ENST00000298229.2	+	26	3664	c.3460delC	c.(3460-3462)cccfs	p.P1155fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.P913fs|PHOX2A_ENST00000544057.1_5'Flank	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1155					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697																																						dbGAP											0													10.0	12.0	12.0					11																	71948748		2120	4190	6310	-	-	-	SO:0001589	frameshift_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3460delC	11.37:g.71948748delC	ENSP00000298229:p.Pro1155fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.R1156fs	ENST00000298229.2	37	c.3460	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	13	0.00	0	C	NM_001567		71948748	71948748	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	frame_shift_del	5	44.44	4	DEL	0.962	-
INSR	3643	genome.wustl.edu	37	19	7141785	7141785	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:7141785A>G	ENST00000302850.5	-	13	2727	c.2585T>C	c.(2584-2586)tTt>tCt	p.F862S	INSR_ENST00000341500.5_Missense_Mutation_p.F850S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	862	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GTTGTTCTCAAAGATTTCATG	0.502																																						dbGAP											0													174.0	128.0	144.0					19																	7141785		2203	4300	6503	-	-	-	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2585T>C	19.37:g.7141785A>G	ENSP00000303830:p.Phe862Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F862S	ENST00000302850.5	37	c.2585	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	A	1.492	-0.554274	0.03996	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.50813	0.73;0.73	5.3	4.29	0.51040	Fibronectin, type III (3);	0.524159	0.15920	U	0.238170	T	0.21841	0.0526	N	0.04959	-0.14	0.22719	N	0.998817	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.17715	-1.0360	10	0.07030	T	0.85	.	8.6172	0.33840	0.9094:0.0:0.0906:0.0	.	850;862	P06213-2;P06213	.;INSR_HUMAN	S	862;850	ENSP00000303830:F862S;ENSP00000342838:F850S	ENSP00000303830:F862S	F	-	2	0	INSR	7092785	1.000000	0.71417	0.986000	0.45419	0.106000	0.19336	5.466000	0.66731	1.994000	0.58287	0.528000	0.53228	TTT	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171105		0.502	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	57	0.00	0	A			7141785	7141785	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.364	G
INTS12	57117	genome.wustl.edu	37	4	106621097	106621097	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:106621097T>C	ENST00000451321.2	-	2	545	c.66A>G	c.(64-66)tcA>tcG	p.S22S	INTS12_ENST00000394735.1_Silent_p.S22S|INTS12_ENST00000340139.5_Silent_p.S22S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	22					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTTTACTCTTTGAATGCAAGA	0.398																																						dbGAP											0													135.0	145.0	141.0					4																	106621097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.66A>G	4.37:g.106621097T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC48|Q3B6Z3|Q9HD71	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S22	ENST00000451321.2	37	c.66	CCDS3671.1	4																																																																																			INTS12	-	NULL	ENSG00000138785		0.398	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	492	0.00	0	T	NM_020395		106621097	106621097	-1	no_errors	ENST00000340139	ensembl	human	known	69_37n	silent	478	20.66	125	SNP	0.897	C
INTS3	65123	genome.wustl.edu	37	1	153730074	153730074	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:153730074C>T	ENST00000318967.2	+	10	1552	c.984C>T	c.(982-984)taC>taT	p.Y328Y	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.Y122Y|INTS3_ENST00000456435.1_Silent_p.Y122Y|INTS3_ENST00000435409.2_Silent_p.Y328Y	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	329					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAAAGCGATACCAAGATTGGT	0.512																																						dbGAP											0													201.0	184.0	190.0					1																	153730074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.984C>T	1.37:g.153730074C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Integrator_3	p.Y328	ENST00000318967.2	37	c.984	CCDS1052.1	1																																																																																			INTS3	-	pfam_Integrator_3	ENSG00000143624		0.512	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	293	0.00	0	C	NM_023015		153730074	153730074	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	silent	257	25.94	90	SNP	0.996	T
INTS4	92105	genome.wustl.edu	37	11	77692573	77692573	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:77692573A>G	ENST00000534064.1	-	3	330	c.296T>C	c.(295-297)tTa>tCa	p.L99S	INTS4_ENST00000529807.1_Missense_Mutation_p.L99S	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	99					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTCTTTGATAATAAACCCAA	0.368																																						dbGAP											0													122.0	109.0	113.0					11																	77692573		2200	4292	6492	-	-	-	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.296T>C	11.37:g.77692573A>G	ENSP00000434466:p.Leu99Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L99S	ENST00000534064.1	37	c.296	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423991	0.83667	.	.	ENSG00000149262	ENST00000534064;ENST00000529807	T;T	0.73258	-0.73;0.91	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.82495	0.5049	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.84970	0.0882	10	0.87932	D	0	-8.8545	14.4225	0.67193	1.0:0.0:0.0:0.0	.	99	Q96HW7	INT4_HUMAN	S	99	ENSP00000434466:L99S;ENSP00000433644:L99S	ENSP00000407787:L99S	L	-	2	0	INTS4	77370221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.495000	0.90481	2.001000	0.58596	0.482000	0.46254	TTA	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.368	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	55	0.00	0	A	NM_033547		77692573	77692573	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	missense	61	35.79	34	SNP	1.000	G
IP6K3	117283	genome.wustl.edu	37	6	33694514	33694514	+	Missense_Mutation	SNP	G	G	A	rs554686855	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:33694514G>A	ENST00000293756.4	-	4	909	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	IP6K3_ENST00000451316.1_Missense_Mutation_p.R195W	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	195					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						ATACGATGCCGCTTGTTCTCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		19186	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													84.0	76.0	79.0					6																	33694514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.583C>T	6.37:g.33694514G>A	ENSP00000293756:p.Arg195Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MQ9	Missense_Mutation	SNP	pfam_IPK	p.R195W	ENST00000293756.4	37	c.583	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702586	0.15172	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.18502	2.21;2.21	5.24	-0.89	0.10577	.	0.985360	0.08270	N	0.971643	T	0.10723	0.0262	M	0.65975	2.015	0.19575	N	0.999967	D	0.71674	0.998	P	0.47528	0.549	T	0.21143	-1.0254	10	0.66056	D	0.02	-9.9954	7.7173	0.28712	0.1301:0.0:0.4395:0.4305	.	195	Q96PC2	IP6K3_HUMAN	W	195	ENSP00000398861:R195W;ENSP00000293756:R195W	ENSP00000293756:R195W	R	-	1	2	IP6K3	33802492	0.881000	0.30235	0.309000	0.25155	0.101000	0.19017	1.994000	0.40757	-0.054000	0.13266	0.462000	0.41574	CGG	IP6K3	-	NULL	ENSG00000161896		0.602	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	39	0.00	0	G	NM_054111		33694514	33694514	-1	no_errors	ENST00000293756	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.200	A
IQGAP3	128239	genome.wustl.edu	37	1	156520119	156520119	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:156520119G>A	ENST00000361170.2	-	16	1769	c.1759C>T	c.(1759-1761)Ctg>Ttg	p.L587L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	587					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAAGCCACAGCACAGCTCCA	0.557																																						dbGAP											0													70.0	64.0	66.0					1																	156520119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1759C>T	1.37:g.156520119G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3H8	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.L587	ENST00000361170.2	37	c.1759	CCDS1144.1	1																																																																																			IQGAP3	-	NULL	ENSG00000183856		0.557	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	136	0.73	1	G	NM_178229		156520119	156520119	-1	no_errors	ENST00000361170	ensembl	human	known	69_37n	silent	133	13.07	20	SNP	1.000	A
IRX4	50805	genome.wustl.edu	37	5	1879743	1879743	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:1879743T>C	ENST00000505790.1	-	5	1067	c.611A>G	c.(610-612)aAc>aGc	p.N204S	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.N204S|IRX4_ENST00000231357.2_Missense_Mutation_p.N204S	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	204					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGTCATCTTGTTCTCCTTCTT	0.657																																						dbGAP											0													81.0	71.0	74.0					5																	1879743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.611A>G	5.37:g.1879743T>C	ENSP00000423161:p.Asn204Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.N204S	ENST00000505790.1	37	c.611	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	T	18.82	3.706126	0.68615	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.83335	-1.71;-1.71;-1.71	4.55	4.55	0.56014	Homeodomain-related (1);Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.89509	0.3770	10	0.87932	D	0	-18.5134	12.8941	0.58089	0.0:0.0:0.0:1.0	.	204	P78413	IRX4_HUMAN	S	204	ENSP00000231357:N204S;ENSP00000423161:N204S;ENSP00000424235:N204S	ENSP00000231357:N204S	N	-	2	0	IRX4	1932743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.863000	0.69568	1.680000	0.50976	0.379000	0.24179	AAC	IRX4	-	smart_Homeodomain	ENSG00000113430		0.657	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	20	0.00	0	T	NM_016358		1879743	1879743	-1	no_errors	ENST00000231357	ensembl	human	known	69_37n	missense	10	23.08	3	SNP	1.000	C
ISLR2	57611	genome.wustl.edu	37	15	74425525	74425525	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:74425525G>A	ENST00000361742.3	+	4	1199	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	ISLR2_ENST00000453268.2_Missense_Mutation_p.G144S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.G144S|ISLR2_ENST00000565540.1_Missense_Mutation_p.G144S|ISLR2_ENST00000419208.1_Missense_Mutation_p.G144S|ISLR2_ENST00000445793.1_Missense_Mutation_p.G144S|ISLR2_ENST00000565159.1_Missense_Mutation_p.G144S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	144					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGACGCACTCGGTGCGCTACC	0.642																																						dbGAP											0													52.0	55.0	54.0					15																	74425525		2198	4297	6495	-	-	-	SO:0001583	missense	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.430G>A	15.37:g.74425525G>A	ENSP00000355402:p.Gly144Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K352|Q9P263	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.G144S	ENST00000361742.3	37	c.430	CCDS10259.1	15	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058949	0.01950	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.46	3.51	0.40186	.	0.436856	0.22978	U	0.053343	T	0.22166	0.0534	N	0.02960	-0.455	0.09310	N	1	B	0.25441	0.126	B	0.19148	0.024	T	0.13818	-1.0495	10	0.05833	T	0.94	.	11.2931	0.49263	0.0:0.505:0.495:0.0	.	144	Q6UXK2	ISLR2_HUMAN	S	144	ENSP00000403244:G144S;ENSP00000355402:G144S;ENSP00000411443:G144S;ENSP00000411834:G144S;ENSP00000408872:G144S	ENSP00000355402:G144S	G	+	1	0	ISLR2	72212578	0.238000	0.23825	0.358000	0.25811	0.370000	0.29829	1.805000	0.38883	2.042000	0.60477	0.407000	0.27541	GGT	ISLR2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000167178		0.642	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	104	0.00	0	G	NM_020851		74425525	74425525	+1	no_errors	ENST00000361742	ensembl	human	known	69_37n	missense	32	46.67	28	SNP	0.020	A
ITFG1	81533	genome.wustl.edu	37	16	47347684	47347684	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:47347684A>G	ENST00000320640.6	-	9	1081	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R	RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.C172R|ITFG1_ENST00000568047.1_5'Flank|Y_RNA_ENST00000410835.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	285						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTCTTTTGGCAATTTTTATCT	0.338																																						dbGAP											0													115.0	101.0	106.0					16																	47347684		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.853T>C	16.37:g.47347684A>G	ENSP00000319918:p.Cys285Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.C285R	ENST00000320640.6	37	c.853	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796740	0.70567	.	.	ENSG00000129636	ENST00000320640;ENST00000542691;ENST00000544001	T	0.19669	2.13	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.48127	-0.9062	10	0.44086	T	0.13	-26.8199	15.3933	0.74767	1.0:0.0:0.0:0.0	.	172;285	F5GXC5;Q8TB96	.;TIP_HUMAN	R	285;30;172	ENSP00000319918:C285R	ENSP00000319918:C285R	C	-	1	0	ITFG1	45905185	1.000000	0.71417	0.951000	0.38953	0.704000	0.40688	6.837000	0.75354	2.371000	0.80710	0.533000	0.62120	TGC	ITFG1	-	NULL	ENSG00000129636		0.338	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	64	0.00	0	A	NM_030790		47347684	47347684	-1	no_errors	ENST00000320640	ensembl	human	known	69_37n	missense	35	37.50	21	SNP	0.988	G
ITGB7	3695	genome.wustl.edu	37	12	53586198	53586198	+	Missense_Mutation	SNP	G	G	A	rs2230397	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:53586198G>A	ENST00000267082.5	-	14	2302	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	ITGB7_ENST00000422257.3_Missense_Mutation_p.R691W|ITGB7_ENST00000338737.4_Missense_Mutation_p.R543W|ITGB7_ENST00000550743.2_Missense_Mutation_p.R543W	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	691					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAGGGTCCGCTCTTTGCAC	0.577																																						dbGAP											0													140.0	126.0	131.0					12																	53586198		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2071C>T	12.37:g.53586198G>A	ENSP00000267082:p.Arg691Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R691W	ENST00000267082.5	37	c.2071	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524864	0.85600	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.91068	-1.76;-1.76;-2.78	4.83	4.83	0.62350	Integrin beta subunit, tail (1);	0.144209	0.32687	N	0.005763	D	0.92001	0.7466	M	0.81497	2.545	0.47476	P	5.659999999999554E-4	D	0.67145	0.996	P	0.49683	0.619	D	0.93842	0.7137	9	0.72032	D	0.01	.	9.958	0.41680	0.0:0.0:0.1712:0.8288	.	691	P26010	ITB7_HUMAN	W	691;691;543	ENSP00000408741:R691W;ENSP00000267082:R691W;ENSP00000345501:R543W	ENSP00000267082:R691W	R	-	1	2	ITGB7	51872465	0.436000	0.25586	0.647000	0.29507	0.350000	0.29205	0.852000	0.27764	0.824000	0.34613	-0.363000	0.07495	CGG	ITGB7	-	pirsf_Integrin_bsu,superfamily_Integrin_bsu_tail	ENSG00000139626		0.577	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	168	0.00	0	G			53586198	53586198	-1	no_errors	ENST00000267082	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	0.601	A
ITIH2	3698	genome.wustl.edu	37	10	7785211	7785211	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:7785211A>G	ENST00000358415.4	+	17	2364	c.2198A>G	c.(2197-2199)gAc>gGc	p.D733G	ITIH2_ENST00000379587.4_Missense_Mutation_p.D722G	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	733					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGGTTTCTGACCCAGAATCA	0.348																																						dbGAP											0													79.0	92.0	88.0					10																	7785211		2203	4299	6502	-	-	-	SO:0001583	missense	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2198A>G	10.37:g.7785211A>G	ENSP00000351190:p.Asp733Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D733G	ENST00000358415.4	37	c.2198	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417039	0.83449	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.06142	3.34;3.36	5.72	5.72	0.89469	.	0.102622	0.64402	D	0.000003	T	0.30039	0.0752	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06734	-1.0810	10	0.87932	D	0	-25.9316	16.0204	0.80478	1.0:0.0:0.0:0.0	.	733	P19823	ITIH2_HUMAN	G	733;722	ENSP00000351190:D733G;ENSP00000368906:D722G	ENSP00000351190:D733G	D	+	2	0	ITIH2	7825217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.701000	0.91331	2.174000	0.68829	0.533000	0.62120	GAC	ITIH2	-	NULL	ENSG00000151655		0.348	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	173	0.00	0	A	NM_002216		7785211	7785211	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	1.000	G
ITPR1	3708	genome.wustl.edu	37	3	4716875	4716875	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:4716875A>G	ENST00000443694.2	+	20	2677	c.2677A>G	c.(2677-2679)Agc>Ggc	p.S893G	ITPR1_ENST00000456211.2_Missense_Mutation_p.S893G|ITPR1_ENST00000302640.8_Missense_Mutation_p.S893G|ITPR1_ENST00000357086.4_Missense_Mutation_p.S908G|ITPR1_ENST00000423119.2_Missense_Mutation_p.S908G|ITPR1_ENST00000354582.6_Missense_Mutation_p.S908G|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	908					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTTCCCCATTAGCAAGATGGC	0.428																																						dbGAP											0													141.0	128.0	132.0					3																	4716875		1928	4130	6058	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2677A>G	3.37:g.4716875A>G	ENSP00000401671:p.Ser893Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S893G	ENST00000443694.2	37	c.2677	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445845	0.43429	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.69;-2.69;-2.69;-2.72	4.65	4.65	0.58169	.	0.235962	0.49305	D	0.000147	T	0.74160	0.3680	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.70651	-0.4813	10	0.21540	T	0.41	.	14.5206	0.67847	1.0:0.0:0.0:0.0	.	893;908;908	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	G	908;893;908;908;908;893;893	ENSP00000306253:S893G;ENSP00000346595:S908G;ENSP00000405934:S908G;ENSP00000349597:S908G;ENSP00000397885:S893G;ENSP00000401671:S893G	ENSP00000306253:S893G	S	+	1	0	ITPR1	4691875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	2.087000	0.62958	0.482000	0.46254	AGC	ITPR1	-	NULL	ENSG00000150995		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	104	0.00	0	A	NM_002222		4716875	4716875	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	107	17.69	23	SNP	1.000	G
ITPRIPL1	150771	genome.wustl.edu	37	2	96992655	96992655	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:96992655T>C	ENST00000439118.2	+	3	537	c.286T>C	c.(286-288)Ttc>Ctc	p.F96L	ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.F88L|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.F88L|ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.F104L	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	96						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGTGGCCGTTCCAGGCCGA	0.572																																						dbGAP											0													94.0	102.0	99.0					2																	96992655		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.286T>C	2.37:g.96992655T>C	ENSP00000389308:p.Phe96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H1L8|Q8NE61	Missense_Mutation	SNP	NULL	p.F104L	ENST00000439118.2	37	c.310	CCDS46360.1	2	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100680	0.56183	.	.	ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	T;T;T;T	0.16073	2.4;2.38;2.37;2.4	4.89	4.89	0.63831	.	0.218700	0.23526	N	0.047239	T	0.10508	0.0257	N	0.14661	0.345	0.35468	D	0.797116	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.15206	-1.0445	10	0.33940	T	0.23	-12.5679	10.8284	0.46647	0.0:0.0:0.0:1.0	.	104;96	Q6GPH6-2;Q6GPH6	.;IPIL1_HUMAN	L	88;88;96;104;88	ENSP00000439566:F88L;ENSP00000389308:F96L;ENSP00000355121:F104L;ENSP00000438212:F88L	ENSP00000355121:F104L	F	+	1	0	ITPRIPL1	96356382	0.726000	0.28059	0.742000	0.31022	0.645000	0.38454	0.791000	0.26915	2.065000	0.61736	0.533000	0.62120	TTC	ITPRIPL1	-	NULL	ENSG00000198885		0.572	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	ITPRIPL1	HGNC	protein_coding	OTTHUMT00000338896.1	105	0.00	0	T	NM_178495		96992655	96992655	+1	no_errors	ENST00000361124	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.928	C
ITSN1	6453	genome.wustl.edu	37	21	35147278	35147278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:35147278delA	ENST00000381318.3	+	14	1750	c.1462delA	c.(1462-1464)aaafs	p.K489fs	ITSN1_ENST00000381291.4_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.K489fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.K452fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.K489fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.K489fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	489	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAAGAATGATAAAAAGCATCA	0.313																																						dbGAP											0													66.0	68.0	67.0					21																	35147278		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1462delA	21.37:g.35147278delA	ENSP00000370719:p.Lys489fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K489fs	ENST00000381318.3	37	c.1462	CCDS33545.1	21																																																																																			ITSN1	-	NULL	ENSG00000205726		0.313	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	184	0.00	0	A	NM_003024		35147278	35147278	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	frame_shift_del	213	15.23	39	DEL	1.000	-
IVNS1ABP	10625	genome.wustl.edu	37	1	185267688	185267688	+	Intron	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:185267688A>T	ENST00000367498.3	-	15	2298				IVNS1ABP_ENST00000392007.3_Intron|IVNS1ABP_ENST00000459929.1_Intron	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						aataagtacaattttcaccaa	0.393																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1676-268T>A	1.37:g.185267688A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	RNA	SNP	-	NULL	ENST00000367498.3	37	NULL	CCDS1368.1	1																																																																																			IVNS1ABP	-	-	ENSG00000116679		0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	12	0.00	0	A	NM_006469		185267688	185267688	-1	no_errors	ENST00000494880	ensembl	human	known	69_37n	rna	9	43.75	7	SNP	0.000	T
JAK1	3716	genome.wustl.edu	37	1	65310574	65310574	+	Splice_Site	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:65310574T>G	ENST00000342505.4	-	16	2364		c.e16-2		JAK1_ENST00000465376.1_Splice_Site	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTATCCTCCTGCAGAGTAAA	0.517			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													77.0	84.0	81.0					1																	65310574		1971	4150	6121	-	-	-	SO:0001630	splice_region_variant	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2116-2A>C	1.37:g.65310574T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GQ2|Q9UD26	Splice_Site	SNP	-	e15-2	ENST00000342505.4	37	c.2116-2	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407155	0.25378	.	.	ENSG00000162434	ENST00000342505	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.362	0.44001	0.0:0.0797:0.0:0.9203	.	.	.	.	.	-1	.	.	.	-	.	.	JAK1	65083162	1.000000	0.71417	0.934000	0.37439	0.171000	0.22731	5.624000	0.67764	1.957000	0.56846	0.460000	0.39030	.	JAK1	-	-	ENSG00000162434		0.517	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	51	0.00	0	T	NM_002227	Intron	65310574	65310574	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	splice_site	29	29.27	12	SNP	0.995	G
IVNS1ABP	10625	genome.wustl.edu	37	1	185278213	185278213	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:185278213T>C	ENST00000367498.3	-	4	825	c.203A>G	c.(202-204)cAt>cGt	p.H68R	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.H68R	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	68	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAAATTCCATGAGGATCACT	0.378																																						dbGAP											0													52.0	54.0	53.0					1																	185278213		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.203A>G	1.37:g.185278213T>C	ENSP00000356468:p.His68Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,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.H68R	ENST00000367498.3	37	c.203	CCDS1368.1	1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124429	0.37533	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.69926	-0.44;-0.23	5.67	5.67	0.87782	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044728	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11724	0.165	0.80722	D	1	P	0.34864	0.473	B	0.38106	0.265	T	0.55354	-0.8154	10	0.34782	T	0.22	.	15.916	0.79517	0.0:0.0:0.0:1.0	.	68	Q9Y6Y0	NS1BP_HUMAN	R	68	ENSP00000356468:H68R;ENSP00000356467:H68R	ENSP00000356467:H68R	H	-	2	0	IVNS1ABP	183544836	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.930000	0.87610	2.164000	0.68074	0.482000	0.46254	CAT	IVNS1ABP	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000116679		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	79	0.00	0	T	NM_006469		185278213	185278213	-1	no_errors	ENST00000367498	ensembl	human	known	69_37n	missense	114	15.56	21	SNP	1.000	C
JAK3	3718	genome.wustl.edu	37	19	17945532	17945532	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:17945532T>C	ENST00000527670.1	-	16	2229		c.e16-2		JAK3_ENST00000534444.1_Splice_Site|JAK3_ENST00000458235.1_Splice_Site			P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TTGGAGTTTCTGAGGGTGAGA	0.582		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													51.0	62.0	59.0					19																	17945532		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2200-2A>G	19.37:g.17945532T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	SNP	-	e16-2	ENST00000527670.1	37	c.2200-2	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818411	0.50633	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2835	0.54779	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAK3	17806532	1.000000	0.71417	0.919000	0.36401	0.600000	0.36913	7.528000	0.81941	1.790000	0.52503	0.397000	0.26171	.	JAK3	-	-	ENSG00000105639		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	98	0.00	0	T	NM_000215	Intron	17945532	17945532	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	splice_site	45	22.41	13	SNP	1.000	C
JOSD1	9929	genome.wustl.edu	37	22	39085345	39085345	+	Silent	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:39085345T>G	ENST00000216039.5	-	2	949	c.270A>C	c.(268-270)gcA>gcC	p.A90A		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1	90	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	omega peptidase activity (GO:0008242)			large_intestine(1)|lung(1)|ovary(2)|pancreas(1)	5	Melanoma(58;0.04)					TGGTCTGAAGTGCTGCCATAA	0.463																																						dbGAP											0													193.0	144.0	161.0					22																	39085345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13976.1	22q13.1	2005-11-10			ENSG00000100221	ENSG00000100221			28953	protein-coding gene	gene with protein product		615323				7584044	Standard	NM_014876		Approved	KIAA0063	uc003awf.3	Q15040	OTTHUMG00000151030	ENST00000216039.5:c.270A>C	22.37:g.39085345T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K712	Silent	SNP	pfam_Josephin,pfscan_Josephin	p.A90	ENST00000216039.5	37	c.270	CCDS13976.1	22																																																																																			JOSD1	-	pfam_Josephin,pfscan_Josephin	ENSG00000100221		0.463	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JOSD1	HGNC	protein_coding	OTTHUMT00000321047.1	129	0.77	1	T	NM_014876		39085345	39085345	-1	no_errors	ENST00000216039	ensembl	human	known	69_37n	silent	45	51.09	47	SNP	0.608	G
JPH4	84502	genome.wustl.edu	37	14	24040653	24040653	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:24040653C>A	ENST00000397118.3	-	6	2189	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	JPH4_ENST00000356300.4_Missense_Mutation_p.Q429H|JPH4_ENST00000544177.1_Missense_Mutation_p.Q94H	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	429					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTTCTGAGTCCTGCCTGGGTC	0.607																																						dbGAP											0													38.0	39.0	38.0					14																	24040653		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1287G>T	14.37:g.24040653C>A	ENSP00000380307:p.Gln429His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.Q429H	ENST00000397118.3	37	c.1287	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543612	0.27563	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58797	0.31;0.31;0.76	5.17	1.29	0.21616	.	0.000000	0.28958	U	0.013584	T	0.53786	0.1818	L	0.27053	0.805	0.32778	N	0.502881	D;D	0.64830	0.994;0.989	P;P	0.62184	0.899;0.732	T	0.58306	-0.7659	10	0.26408	T	0.33	.	7.5521	0.27804	0.0:0.6438:0.0:0.3562	.	94;429	F5H1L9;Q96JJ6	.;JPH4_HUMAN	H	429;429;429;430;94	ENSP00000348648:Q429H;ENSP00000380307:Q429H;ENSP00000439562:Q94H	ENSP00000267407:Q430H	Q	-	3	2	JPH4	23110493	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.777000	0.26718	0.033000	0.15463	-0.150000	0.13652	CAG	JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.607	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	151	0.00	0	C	NM_032452		24040653	24040653	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	missense	39	60.61	60	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124201667	124201667	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:124201667C>T	ENST00000240874.3	+	28	4355	c.4198C>T	c.(4198-4200)Cgg>Tgg	p.R1400W	KALRN_ENST00000460856.1_Missense_Mutation_p.R1391W|KALRN_ENST00000360013.3_Missense_Mutation_p.R1400W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1400	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1400R(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATACAACAGCGGCATGGTCT	0.507																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											223.0	181.0	195.0					3																	124201667		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4198C>T	3.37:g.124201667C>T	ENSP00000240874:p.Arg1400Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R1400W	ENST00000240874.3	37	c.4198	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014714	0.54468	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.64618	-0.11;-0.11;-0.11	5.31	4.43	0.53597	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.983;0.989;1.0	T	0.83131	-0.0113	10	0.87932	D	0	.	13.5011	0.61457	0.3375:0.6625:0.0:0.0	.	1391;746;1400;1400	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	W	1391;1400;1400	ENSP00000418611:R1391W;ENSP00000240874:R1400W;ENSP00000353109:R1400W	ENSP00000240874:R1400W	R	+	1	2	KALRN	125684357	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.444000	0.35068	1.454000	0.47793	0.655000	0.94253	CGG	KALRN	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000160145		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	133	0.00	0	C	NM_003947		124201667	124201667	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	98	32.88	48	SNP	1.000	T
KANK2	25959	genome.wustl.edu	37	19	11280554	11280554	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:11280554G>A	ENST00000586659.1	-	12	2815	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L	KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Splice_Site_p.S842L|KANK2_ENST00000589359.1_Splice_Site_p.S842L|KANK2_ENST00000355150.5_Splice_Site_p.S834L|KANK2_ENST00000589894.1_Missense_Mutation_p.S834L			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	834	Interaction with NCOA1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACCGAGCACTTGAT	0.537																																						dbGAP											0													103.0	86.0	92.0					19																	11280554		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2502+1C>T	19.37:g.11280554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S842L	ENST00000586659.1	37	c.2525	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620957	0.87460	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39592	1.07;1.09	4.83	4.83	0.62350	.	0.078044	0.52532	D	0.000061	T	0.48132	0.1483	N	0.19112	0.55	0.46113	D	0.998879	D;D	0.89917	0.993;1.0	P;D	0.81914	0.561;0.995	T	0.50311	-0.8843	10	0.51188	T	0.08	-14.0343	13.4021	0.60889	0.0:0.0:1.0:0.0	.	834;842	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	L	842;834	ENSP00000395650:S842L;ENSP00000347276:S834L	ENSP00000347276:S834L	S	-	2	0	KANK2	11141554	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.952000	0.75989	2.218000	0.71995	0.455000	0.32223	TCG	KANK2	-	NULL	ENSG00000197256		0.537	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	38	0.00	0	G	NM_015493	Missense_Mutation	11280554	11280554	-1	no_errors	ENST00000432929	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	A
KANSL1	284058	genome.wustl.edu	37	17	44109601	44109601	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:44109601delG	ENST00000262419.6	-	14	3372	c.2902delC	c.(2902-2904)cagfs	p.Q968fs	KANSL1_ENST00000572904.1_Frame_Shift_Del_p.Q968fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.Q968fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.Q262fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.Q968fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.Q904fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	968	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGGCAGGCTGGGGGGTGGAG	0.607																																						dbGAP											0													39.0	46.0	44.0					17																	44109601		2201	4300	6501	-	-	-	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2902delC	17.37:g.44109601delG	ENSP00000262419:p.Gln968fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	NULL	p.Q968fs	ENST00000262419.6	37	c.2902	CCDS11503.1	17																																																																																			KANSL1	-	NULL	ENSG00000120071		0.607	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	58	0.00	0	G	NM_015443		44109601	44109601	-1	no_errors	ENST00000262419	ensembl	human	known	69_37n	frame_shift_del	34	22.92	11	DEL	0.999	-
KAT6B	23522	genome.wustl.edu	37	10	76781833	76781833	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:76781833A>G	ENST00000287239.4	+	16	3705	c.3216A>G	c.(3214-3216)gaA>gaG	p.E1072E	RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Silent_p.E780E|KAT6B_ENST00000372711.1_Silent_p.E889E|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Silent_p.E780E|KAT6B_ENST00000372714.1_Silent_p.E780E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1072	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GTgaagaagaagaggaggagg	0.488											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													22.0	23.0	23.0					10																	76781833		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3216A>G	10.37:g.76781833A>G		Somatic	1170	WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1072	ENST00000287239.4	37	c.3216	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.488	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	111	0.89	1	A	NM_012330		76781833	76781833	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	silent	66	10.53	8	SNP	0.979	G
KBTBD2	25948	genome.wustl.edu	37	7	32910447	32910447	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:32910447delT	ENST00000304056.4	-	4	1081	c.382delA	c.(382-384)atafs	p.I128fs	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'UTR	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	128										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TCTGCatttatttttttaatt	0.358																																						dbGAP											0													35.0	35.0	35.0					7																	32910447		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.382delA	7.37:g.32910447delT	ENSP00000302586:p.Ile128fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I128fs	ENST00000304056.4	37	c.382	CCDS34614.1	7																																																																																			KBTBD2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000170852		0.358	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	68	0.00	0	T	XM_291224		32910447	32910447	-1	no_errors	ENST00000304056	ensembl	human	known	69_37n	frame_shift_del	27	54.69	35	DEL	1.000	-
KCNA2	3737	genome.wustl.edu	37	1	111146137	111146137	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:111146137C>T	ENST00000485317.1	-	3	1941	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	KCNA2_ENST00000316361.4_Missense_Mutation_p.G423E|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G423E|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	423					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CTGTTCCTCTCCCTCTGTCTC	0.483																																					Pancreas(18;568 735 10587 23710 36357)	dbGAP											0													170.0	161.0	164.0					1																	111146137		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1268G>A	1.37:g.111146137C>T	ENSP00000433109:p.Gly423Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XG6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1	p.G423E	ENST00000485317.1	37	c.1268	CCDS827.1	1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403781	0.42613	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.96073	-3.9;-3.9;-3.9	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	M	0.67397	2.05	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	D	0.93651	0.6973	10	0.02654	T	1	.	19.1701	0.93574	0.0:1.0:0.0:0.0	.	423	P16389	KCNA2_HUMAN	E	423	ENSP00000433109:G423E;ENSP00000415257:G423E;ENSP00000314520:G423E	ENSP00000314520:G423E	G	-	2	0	KCNA2	110947660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.041000	0.70988	2.518000	0.84900	0.655000	0.94253	GGA	KCNA2	-	NULL	ENSG00000177301		0.483	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	217	0.00	0	C	NM_004974		111146137	111146137	-1	no_errors	ENST00000316361	ensembl	human	known	69_37n	missense	87	23.68	27	SNP	1.000	T
KCNC1	3746	genome.wustl.edu	37	11	17793278	17793278	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:17793278G>A	ENST00000379472.3	+	2	667	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KCNC1_ENST00000265969.6_Missense_Mutation_p.E213K	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	213					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGAGACCCACGAGCGCTTCAA	0.577																																						dbGAP											0													164.0	133.0	143.0					11																	17793278		2200	4293	6493	-	-	-	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.637G>A	11.37:g.17793278G>A	ENSP00000368785:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	K4DI87	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.E213K	ENST00000379472.3	37	c.637	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.726271	0.96847	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97455	-4.39;-4.39	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.87097	2.86	0.80722	D	1	P;D	0.76494	0.647;0.999	B;D	0.81914	0.055;0.995	D	0.99795	1.1033	10	0.72032	D	0.01	.	17.6592	0.88187	0.0:0.0:1.0:0.0	.	213;213	Q3KNS8;P48547	.;KCNC1_HUMAN	K	213	ENSP00000265969:E213K;ENSP00000368785:E213K	ENSP00000265969:E213K	E	+	1	0	KCNC1	17749854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.166000	0.68216	0.505000	0.49811	GAG	KCNC1	-	prints_K_chnl_volt-dep_Kv3.1	ENSG00000129159		0.577	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	138	0.00	0	G	NM_004976		17793278	17793278	+1	no_errors	ENST00000265969	ensembl	human	known	69_37n	missense	106	24.82	35	SNP	1.000	A
KCNH4	23415	genome.wustl.edu	37	17	40321597	40321597	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:40321597C>T	ENST00000264661.3	-	9	1820	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K	KCNH4_ENST00000607371.1_Silent_p.K496K	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	496					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGATGAAGTCCTTGAGGTCCT	0.632																																					NSCLC(117;707 1703 2300 21308 31858)	dbGAP											0													89.0	76.0	80.0					17																	40321597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1488G>A	17.37:g.40321597C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.K496	ENST00000264661.3	37	c.1488	CCDS11420.1	17																																																																																			KCNH4	-	superfamily_cNMP-bd-like	ENSG00000089558		0.632	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	33	0.00	0	C	NM_012285		40321597	40321597	-1	no_errors	ENST00000264661	ensembl	human	known	69_37n	silent	16	30.43	7	SNP	1.000	T
KCNH8	131096	genome.wustl.edu	37	3	19322816	19322818	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:19322816_19322818delAAG	ENST00000328405.2	+	3	703_705	c.437_439delAAG	c.(436-441)aaagaa>aaa	p.E147del		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	147					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAAGATAAAAAAGAAGGTTTGTA	0.305																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.437_439delAAG	3.37:g.19322819_19322821delAAG	ENSP00000328813:p.Glu147del	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I7|Q59GQ6	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.E147in_frame_del	ENST00000328405.2	37	c.437_439	CCDS2632.1	3																																																																																			KCNH8	-	NULL	ENSG00000183960		0.305	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	143	0.00	0	AAG	NM_144633		19322816	19322818	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	in_frame_del	158	14.13	26	DEL	1.000:1.000:1.000	-
KCNJ16	3773	genome.wustl.edu	37	17	68129141	68129141	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:68129141C>A	ENST00000589377.1	+	2	1076	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	KCNJ16_ENST00000283936.1_Missense_Mutation_p.L305I|KCNJ16_ENST00000392670.1_Missense_Mutation_p.L305I|KCNJ16_ENST00000392671.1_Missense_Mutation_p.L305I|KCNJ16_ENST00000585558.1_Missense_Mutation_p.L340I|KCNJ16_ENST00000586462.1_Missense_Mutation_p.L344I	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	305					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCGAGAAATTCTCTGGGGCCA	0.403																																						dbGAP											0													73.0	79.0	77.0					17																	68129141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.913C>A	17.37:g.68129141C>A	ENSP00000465967:p.Leu305Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir_Cr2	p.L305I	ENST00000589377.1	37	c.913	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014967	0.54468	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.95205	-3.64;-3.64;-3.64	5.78	3.79	0.43588	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.061094	0.64402	D	0.000009	D	0.96346	0.8808	M	0.75447	2.3	0.44030	D	0.99675	D;D	0.71674	0.998;0.961	D;P	0.73708	0.981;0.901	D	0.95814	0.8844	9	.	.	.	.	11.5726	0.50843	0.0:0.8548:0.0:0.1452	.	305;305	A8K434;Q9NPI9	.;IRK16_HUMAN	I	305	ENSP00000283936:L305I;ENSP00000376439:L305I;ENSP00000376438:L305I	.	L	+	1	0	KCNJ16	65640736	1.000000	0.71417	0.964000	0.40570	0.273000	0.26683	4.906000	0.63293	1.433000	0.47394	0.650000	0.86243	CTC	KCNJ16	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000153822		0.403	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	357	0.00	0	C	NM_018658		68129141	68129141	+1	no_errors	ENST00000283936	ensembl	human	known	69_37n	missense	306	21.13	82	SNP	1.000	A
KCNK16	83795	genome.wustl.edu	37	6	39286910	39286910	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:39286910C>A	ENST00000373229.5	-	2	227		c.e2-1		KCNK16_ENST00000437525.2_Splice_Site|KCNK16_ENST00000507712.1_Splice_Site|KCNK16_ENST00000373227.4_Splice_Site|KCNK16_ENST00000425054.2_Splice_Site	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCATGATGACCTGTAGGGGGT	0.532																																						dbGAP											0													77.0	75.0	76.0					6																	39286910		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.214-1G>T	6.37:g.39286910C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Splice_Site	SNP	-	e2-1	ENST00000373229.5	37	c.214-1	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124337	0.77436	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6337	0.91370	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNK16	39394888	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.055000	0.76656	2.483000	0.83821	0.561000	0.74099	.	KCNK16	-	-	ENSG00000095981		0.532	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	63	0.00	0	C	NM_032115	Intron	39286910	39286910	-1	no_errors	ENST00000425054	ensembl	human	known	69_37n	splice_site	37	17.78	8	SNP	1.000	A
KCNK18	338567	genome.wustl.edu	37	10	118969524	118969524	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:118969524delT	ENST00000334549.1	+	3	869	c.869delT	c.(868-870)gttfs	p.V290fs		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	290					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GCCCTTATTGTTTTTGCCTAC	0.502																																						dbGAP											0													242.0	205.0	218.0					10																	118969524		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.869delT	10.37:g.118969524delT	ENSP00000334650:p.Val290fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQQ8	Frame_Shift_Del	DEL	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.F291fs	ENST00000334549.1	37	c.869	CCDS7598.1	10																																																																																			KCNK18	-	pfam_Ion_trans_2	ENSG00000186795		0.502	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	135	0.00	0	T	NM_181840		118969524	118969524	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	frame_shift_del	82	21.90	23	DEL	0.564	-
KCNK18	338567	genome.wustl.edu	37	10	118969695	118969695	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:118969695G>T	ENST00000334549.1	+	3	1040	c.1040G>T	c.(1039-1041)gGa>gTa	p.G347V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	347					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATCATCGTTGGAATGGAGATT	0.378																																						dbGAP											0													245.0	220.0	228.0					10																	118969695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.1040G>T	10.37:g.118969695G>T	ENSP00000334650:p.Gly347Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.G347V	ENST00000334549.1	37	c.1040	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664454	0.88251	.	.	ENSG00000186795	ENST00000334549	T	0.61859	0.07	5.4	5.4	0.78164	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88537	0.3107	10	0.87932	D	0	.	19.5658	0.95391	0.0:0.0:1.0:0.0	.	347	Q7Z418	KCNKI_HUMAN	V	347	ENSP00000334650:G347V	ENSP00000334650:G347V	G	+	2	0	KCNK18	118959685	1.000000	0.71417	0.877000	0.34402	0.975000	0.68041	9.455000	0.97625	2.704000	0.92352	0.655000	0.94253	GGA	KCNK18	-	pfam_Ion_trans_2	ENSG00000186795		0.378	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	124	0.00	0	G	NM_181840		118969695	118969695	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	76	19.15	18	SNP	1.000	T
KDELR1	10945	genome.wustl.edu	37	19	48892897	48892897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:48892897delC	ENST00000330720.2	-	3	458	c.264delG	c.(262-264)gggfs	p.G88fs	KDELR1_ENST00000597017.1_Frame_Shift_Del_p.G26fs	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	88					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGTCATGGTTCCCATCGTAAG	0.537																																						dbGAP											0													178.0	132.0	148.0					19																	48892897		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.264delG	19.37:g.48892897delC	ENSP00000329471:p.Gly88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6N4|Q54A39|Q8NBW7	Frame_Shift_Del	DEL	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.N89fs	ENST00000330720.2	37	c.264	CCDS12718.1	19																																																																																			KDELR1	-	pfam_ER_ret_rcpt	ENSG00000105438		0.537	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1	89	0.00	0	C			48892897	48892897	-1	no_errors	ENST00000330720	ensembl	human	known	69_37n	frame_shift_del	85	48.17	79	DEL	0.926	-
KDELR1	10945	genome.wustl.edu	37	19	48892902	48892903	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:48892902_48892903insT	ENST00000330720.2	-	3	452_453	c.258_259insA	c.(256-261)tacgatfs	p.D87fs	KDELR1_ENST00000597017.1_Frame_Shift_Ins_p.D25fs	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	87					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TGGTTCCCATCGTAAGTAGCTT	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.258_259insA	19.37:g.48892902_48892903insT	ENSP00000329471:p.Asp87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6N4|Q54A39|Q8NBW7	Frame_Shift_Ins	INS	pfam_ER_ret_rcpt,prints_ER_ret_rcpt	p.D86fs	ENST00000330720.2	37	c.259_258	CCDS12718.1	19																																																																																			KDELR1	-	pfam_ER_ret_rcpt	ENSG00000105438		0.535	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELR1	HGNC	protein_coding	OTTHUMT00000465708.1	88	0.00	0	-			48892902	48892903	-1	no_errors	ENST00000330720	ensembl	human	known	69_37n	frame_shift_ins	85	45.51	71	INS	1.000:0.833	T
KDM2A	22992	genome.wustl.edu	37	11	67017996	67017996	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:67017996delC	ENST00000529006.2	+	17	2941	c.2495delC	c.(2494-2496)tccfs	p.S832fs	KDM2A_ENST00000308783.5_Frame_Shift_Del_p.S290fs|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Frame_Shift_Del_p.S393fs|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	832					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTTCGCCATTCCCCCCGTGTG	0.652																																						dbGAP											0													38.0	41.0	40.0					11																	67017996		2103	4215	6318	-	-	-	SO:0001589	frameshift_variant	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2495delC	11.37:g.67017996delC	ENSP00000432786:p.Ser832fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Del	DEL	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R834fs	ENST00000529006.2	37	c.2495	CCDS44657.1	11																																																																																			KDM2A	-	NULL	ENSG00000173120		0.652	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	95	0.00	0	C	NM_012308		67017996	67017996	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	frame_shift_del	65	10.96	8	DEL	1.000	-
KDM3B	51780	genome.wustl.edu	37	5	137727458	137727458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:137727458delG	ENST00000314358.5	+	8	2337	c.2137delG	c.(2137-2139)gggfs	p.G714fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.G370fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	714	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTTACCAGTGGGGGCCCAAG	0.562																																						dbGAP											0													38.0	45.0	43.0					5																	137727458		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2137delG	5.37:g.137727458delG	ENSP00000326563:p.Gly714fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G714fs	ENST00000314358.5	37	c.2137	CCDS34242.1	5																																																																																			KDM3B	-	NULL	ENSG00000120733		0.562	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	193	0.00	0	G	NM_016604		137727458	137727458	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	frame_shift_del	90	20.18	23	DEL	0.902	-
KDM5C	8242	genome.wustl.edu	37	X	53230805	53230805	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:53230805G>A	ENST00000375401.3	-	14	2520	c.1988C>T	c.(1987-1989)gCg>gTg	p.A663V	KDM5C_ENST00000404049.3_Missense_Mutation_p.A662V|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.A663V|KDM5C_ENST00000452825.3_Missense_Mutation_p.A596V|KDM5C_ENST00000375383.3_Missense_Mutation_p.A622V	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	663					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACAGCTGCCGCCAGGTTCAG	0.567			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													76.0	70.0	72.0					X																	53230805		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1988C>T	X.37:g.53230805G>A	ENSP00000364550:p.Ala663Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.A663V	ENST00000375401.3	37	c.1988	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.140564	0.94560	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	L	0.60067	1.865	0.80722	D	1	D;D;D	0.63880	0.981;0.982;0.993	P;P;P	0.51101	0.594;0.545;0.659	T	0.78959	-0.1998	10	0.87932	D	0	-2.9964	16.2625	0.82553	0.0:0.0:1.0:0.0	.	596;662;663	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	V	596;663;662;663;622	ENSP00000445176:A596V;ENSP00000364550:A663V;ENSP00000385394:A662V;ENSP00000364528:A663V;ENSP00000364532:A622V	ENSP00000364528:A663V	A	-	2	0	KDM5C	53247530	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	9.869000	0.99810	2.444000	0.82710	0.600000	0.82982	GCG	KDM5C	-	NULL	ENSG00000126012		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	83	0.00	0	G	NM_004187		53230805	53230805	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	missense	43	27.12	16	SNP	1.000	A
KIAA0196	9897	genome.wustl.edu	37	8	126062831	126062831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:126062831delC	ENST00000318410.7	-	18	2523	c.2174delG	c.(2173-2175)ggafs	p.G725fs	KIAA0196_ENST00000517845.1_Frame_Shift_Del_p.G577fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	725					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAATATCAGTCCCCTATGCAG	0.498																																						dbGAP											0													147.0	126.0	133.0					8																	126062831		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2174delG	8.37:g.126062831delC	ENSP00000318016:p.Gly725fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Frame_Shift_Del	DEL	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.G725fs	ENST00000318410.7	37	c.2174	CCDS6355.1	8																																																																																			KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.498	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	107	0.00	0	C	NM_014846		126062831	126062831	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	frame_shift_del	45	61.83	81	DEL	1.000	-
KIAA0232	9778	genome.wustl.edu	37	4	6865646	6865646	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:6865646delA	ENST00000307659.5	+	7	3992	c.3537delA	c.(3535-3537)ttafs	p.L1179fs	KIAA0232_ENST00000425103.1_Frame_Shift_Del_p.L1179fs	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1179							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTCCCAGGTTAAAAAAATCTG	0.423																																						dbGAP											0													51.0	50.0	50.0					4																	6865646		1800	4069	5869	-	-	-	SO:0001589	frameshift_variant	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3537delA	4.37:g.6865646delA	ENSP00000303928:p.Leu1179fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Frame_Shift_Del	DEL	NULL	p.K1181fs	ENST00000307659.5	37	c.3537	CCDS43209.1	4																																																																																			KIAA0232	-	NULL	ENSG00000170871		0.423	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	201	0.50	1	A	NM_014743		6865646	6865646	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	frame_shift_del	123	14.48	21	DEL	0.997	-
GLTSCR1L	23506	genome.wustl.edu	37	6	42832553	42832553	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:42832553C>T	ENST00000314073.5	+	13	2785	c.2609C>T	c.(2608-2610)aCg>aTg	p.T870M	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.T870M			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	870																	ACCGGTGTGACGGAACCCATG	0.512																																						dbGAP											0													131.0	101.0	111.0					6																	42832553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2609C>T	6.37:g.42832553C>T	ENSP00000313933:p.Thr870Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.T870M	ENST00000314073.5	37	c.2609	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528900	0.27387	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.50001	0.76;0.76	5.14	4.27	0.50696	.	0.358567	0.27092	N	0.020974	T	0.22003	0.0530	N	0.14661	0.345	0.29006	N	0.887194	P	0.38195	0.622	B	0.43251	0.413	T	0.13308	-1.0514	10	0.72032	D	0.01	-1.4482	13.5932	0.61971	0.0:0.9249:0.0:0.0751	.	870	Q6AI39	K0240_HUMAN	M	870	ENSP00000313933:T870M;ENSP00000377723:T870M	ENSP00000313933:T870M	T	+	2	0	KIAA0240	42940531	0.952000	0.32445	0.079000	0.20413	0.042000	0.13812	3.713000	0.54882	1.277000	0.44412	0.655000	0.94253	ACG	KIAA0240	-	NULL	ENSG00000112624		0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	106	0.00	0	C	NM_015349		42832553	42832553	+1	no_errors	ENST00000314073	ensembl	human	known	69_37n	missense	99	16.10	19	SNP	0.904	T
ZSWIM8	23053	genome.wustl.edu	37	10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75556970G>A	ENST00000605216.1	+	17	3576	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1125H|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1120H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1087H|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.R1125H	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1120							zinc ion binding (GO:0008270)										CTTGGCAGTCGTGGAGGCTAT	0.577																																						dbGAP											0													43.0	43.0	43.0					10																	75556970		1875	4113	5988	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3359G>A	10.37:g.75556970G>A	ENSP00000474748:p.Arg1120His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.R1125H	ENST00000605216.1	37	c.3374		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.396670|4.396670	0.83011|0.83011	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.47177|.	0.85|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.170469|.	0.38326|.	U|.	0.001725|.	T|T	0.69242|0.69242	0.3089|0.3089	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.78314|.	0.991;0.991;0.991;0.991|.	T|T	0.66913|0.66913	-0.5803|-0.5803	10|5	0.42905|.	T|.	0.14|.	-4.4047|-4.4047	17.9929|17.9929	0.89174|0.89174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1120;1132;1120;1125|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	H|M	1125|395	ENSP00000381693:R1125H|.	ENSP00000381693:R1125H|.	R|V	+|+	2|1	0|0	KIAA0913|KIAA0913	75226976|75226976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.321000|9.321000	0.96353|0.96353	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CGT|GTG	KIAA0913	-	NULL	ENSG00000214655		0.577	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	52	0.00	0	G	NM_001242487		75556970	75556970	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	A
ZSWIM8	23053	genome.wustl.edu	37	10	75557732	75557732	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75557732G>A	ENST00000605216.1	+	19	4058	c.3841G>A	c.(3841-3843)Gcc>Acc	p.A1281T	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1286T|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A1281T|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1248T|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1286T	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1281							zinc ion binding (GO:0008270)										GCACCTTTGCGCCTTCGAGAT	0.532																																						dbGAP											0													115.0	123.0	120.0					10																	75557732		2076	4205	6281	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3841G>A	10.37:g.75557732G>A	ENSP00000474748:p.Ala1281Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.A1286T	ENST00000605216.1	37	c.3856		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.632632|2.632632	0.47049|0.47049	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.65916|.	-0.18|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.159057|.	0.39759|.	U|.	0.001266|.	T|T	0.78817|0.78817	0.4343|0.4343	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.80764|.	0.99;0.994;0.994;0.99|.	T|T	0.77978|0.77978	-0.2384|-0.2384	10|5	0.87932|.	D|.	0|.	-5.3018|-5.3018	19.9179|19.9179	0.97070|0.97070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1281;1293;1281;1286|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	T|H	1286|996	ENSP00000381693:A1286T|.	ENSP00000381693:A1286T|.	A|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75227738|75227738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.366000|9.366000	0.97143|0.97143	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GCC|CGC	KIAA0913	-	NULL	ENSG00000214655		0.532	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	75	0.00	0	G	NM_001242487		75557732	75557732	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	missense	32	43.86	25	SNP	1.000	A
ICE1	23379	genome.wustl.edu	37	5	5463483	5463483	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:5463483C>T	ENST00000296564.7	+	13	4258	c.4036C>T	c.(4036-4038)Cca>Tca	p.P1346S		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1346					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCAGAGCAGACCAGAGGCCCG	0.562																																						dbGAP											0													33.0	34.0	33.0					5																	5463483		1986	4168	6154	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.4036C>T	5.37:g.5463483C>T	ENSP00000296564:p.Pro1346Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.P1346S	ENST00000296564.7	37	c.4036	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743732	0.15642	.	.	ENSG00000164151	ENST00000296564	T	0.09723	2.95	4.68	1.1	0.20463	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.32829	0.386	B	0.31191	0.125	T	0.42241	-0.9463	9	0.09338	T	0.73	0.1463	7.726	0.28761	0.0:0.4531:0.4537:0.0931	.	1346	Q9Y2F5	K0947_HUMAN	S	1346	ENSP00000296564:P1346S	ENSP00000296564:P1346S	P	+	1	0	KIAA0947	5516483	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-1.817000	0.01719	-0.021000	0.14009	0.305000	0.20034	CCA	KIAA0947	-	NULL	ENSG00000164151		0.562	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	69	0.00	0	C			5463483	5463483	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	78	22.77	23	SNP	0.000	T
KIAA1033	23325	genome.wustl.edu	37	12	105550482	105550483	+	Intron	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:105550482_105550483insT	ENST00000332180.5	+	27	2845					NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TAAATATCTGATTTTTTTGTGT	0.312																																						dbGAP											0										3,3447		0,3,1722						3.8	0.5			111	1,7783		0,1,3891	no	intron	KIAA1033	NM_015275.1		0,4,5613	A1A1,A1R,RR		0.0128,0.087,0.0356				4,11230				-	-	-	SO:0001627	intron_variant	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2759-21->T	12.37:g.105550489_105550489dupT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000332180.5	37	NULL	CCDS41826.1	12																																																																																			KIAA1033	-	-	ENSG00000136051		0.312	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	80	0.00	0	-	NM_015275		105550482	105550483	+1	no_errors	ENST00000551290	ensembl	human	known	69_37n	rna	86	16.50	17	INS	0.242:0.638	T
RIC1	57589	genome.wustl.edu	37	9	5772697	5772697	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:5772697G>T	ENST00000414202.2	+	24	3941	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I	KIAA1432_ENST00000449720.2_Missense_Mutation_p.M1134I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.M1171I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ACATTTCCATGGAGTTGGCCA	0.458																																						dbGAP											0													81.0	75.0	77.0					9																	5772697		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000414202.2:c.3750G>T	9.37:g.5772697G>T	ENSP00000416696:p.Met1250Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.G1142*	ENST00000414202.2	37	c.3424	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.83|14.83	2.653601|2.653601	0.47362|0.47362	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.132889	.|0.64402	.|D	.|0.000003	.|T	.|0.56366	.|0.1980	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;B	.|0.20887	.|0.049;0.049	.|B;B	.|0.16722	.|0.016;0.016	.|T	.|0.52162	.|-0.8612	.|9	.|0.38643	.|T	.|0.18	-14.0876|-14.0876	13.4252|13.4252	0.61022|0.61022	0.0808:0.0:0.9192:0.0|0.0808:0.0:0.9192:0.0	.|.	.|1134;1250	.|B7ZM67;Q4ADV7	.|.;RIC1_HUMAN	X|I	1142|1250;1171;1134;69	.|.	.|ENSP00000416696:M1250I	G|M	+|+	1|3	0|0	KIAA1432|KIAA1432	5762697|5762697	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.908000|3.908000	0.56355|0.56355	2.665000|2.665000	0.90641|0.90641	0.561000|0.561000	0.74099|0.74099	GGA|ATG	KIAA1432	-	NULL	ENSG00000107036		0.458	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	93	0.00	0	G			5772697	5772697	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000545641	ensembl	human	novel	69_37n	nonsense	78	13.33	12	SNP	1.000	T
KIAA1586	57691	genome.wustl.edu	37	6	56918118	56918118	+	Frame_Shift_Del	DEL	A	A	-	rs137898999	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:56918118delA	ENST00000370733.4	+	4	1028	c.821delA	c.(820-822)gaafs	p.E274fs	KIAA1586_ENST00000545356.1_Frame_Shift_Del_p.E247fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	274							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAATTACAGGAAAAAAATGGA	0.289																																						dbGAP											0													30.0	32.0	32.0					6																	56918118		2192	4284	6476	-	-	-	SO:0001589	frameshift_variant	0			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.821delA	6.37:g.56918118delA	ENSP00000359768:p.Glu274fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M3|Q8IW25	Frame_Shift_Del	DEL	superfamily_RNaseH-like_dom	p.N276fs	ENST00000370733.4	37	c.821	CCDS34480.1	6																																																																																			KIAA1586	-	NULL	ENSG00000168116		0.289	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	124	0.00	0	A	NM_020931		56918118	56918118	+1	no_errors	ENST00000370733	ensembl	human	known	69_37n	frame_shift_del	112	15.56	21	DEL	1.000	-
KIAA1598	57698	genome.wustl.edu	37	10	118661318	118661318	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:118661318G>A	ENST00000355371.4	-	16	2128	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L	ENO4_ENST00000369207.2_Intron|KIAA1598_ENST00000392901.4_Missense_Mutation_p.P484L|KIAA1598_ENST00000260777.10_Intron|KIAA1598_ENST00000392903.2_Missense_Mutation_p.P544L|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	544					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CAATTTACGGGGCCCTTCACC	0.453																																						dbGAP											0													95.0	87.0	89.0					10																	118661318		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1631C>T	10.37:g.118661318G>A	ENSP00000347532:p.Pro544Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.P544L	ENST00000355371.4	37	c.1631	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965999	0.34659	.	.	ENSG00000187164	ENST00000392903;ENST00000355371;ENST00000392901	.	.	.	6.06	6.06	0.98353	.	0.669254	0.15034	N	0.284284	T	0.46639	0.1403	L	0.36672	1.1	0.30839	N	0.735884	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.49744	-0.8907	9	0.87932	D	0	1.2009	14.7385	0.69434	0.0685:0.0:0.9315:0.0	.	544;514	A0MZ66;A0MZ66-6	SHOT1_HUMAN;.	L	544;544;484	.	ENSP00000347532:P544L	P	-	2	0	KIAA1598	118651308	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	4.796000	0.62496	2.871000	0.98454	0.655000	0.94253	CCC	KIAA1598	-	NULL	ENSG00000187164		0.453	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		41	0.00	0	G	NM_018330		118661318	118661318	-1	no_errors	ENST00000392903	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.524	A
KIAA1683	80726	genome.wustl.edu	37	19	18377937	18377937	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:18377937C>T	ENST00000600328.3	-	3	606	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	KIAA1683_ENST00000600359.3_Missense_Mutation_p.R92Q|KIAA1683_ENST00000392413.4_Missense_Mutation_p.R138Q			Q9H0B3	K1683_HUMAN	KIAA1683	138						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGAAGCGCCGCCAGGCCTC	0.592																																						dbGAP											0													58.0	57.0	57.0					19																	18377937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.413G>A	19.37:g.18377937C>T	ENSP00000470780:p.Arg138Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R138Q	ENST00000600328.3	37	c.413	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157472	0.38119	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	D;D;D	0.86769	-2.17;-2.17;-2.17	3.53	-0.0168	0.13970	.	0.307444	0.17853	N	0.159762	D	0.85894	0.5803	L	0.34521	1.04	0.09310	N	1	D;B	0.89917	1.0;0.017	D;B	0.76071	0.987;0.005	T	0.73522	-0.3956	10	0.87932	D	0	-18.2852	3.3383	0.07108	0.0:0.5211:0.2209:0.2581	.	138;138	E9PDE0;Q9H0B3	.;K1683_HUMAN	Q	138;138;92;137;138	ENSP00000376213:R138Q;ENSP00000352774:R138Q;ENSP00000404501:R92Q	ENSP00000351198:R137Q	R	-	2	0	KIAA1683	18238937	0.279000	0.24239	0.971000	0.41717	0.068000	0.16541	0.522000	0.22909	0.711000	0.32018	-0.671000	0.03813	CGG	KIAA1683	-	NULL	ENSG00000130518		0.592	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	30	0.00	0	C			18377937	18377937	-1	no_errors	ENST00000392413	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.152	T
KIAA1841	84542	genome.wustl.edu	37	2	61315532	61315534	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:61315532_61315534delAAG	ENST00000402291.1	+	10	1258_1260	c.1017_1019delAAG	c.(1015-1020)gaaaga>gaa	p.R341del	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_In_Frame_Del_p.R341del|KIAA1841_ENST00000356719.2_In_Frame_Del_p.R341del|KIAA1841_ENST00000295031.5_In_Frame_Del_p.R341del	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	341										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAGAAACAGAAAGAAGAATTCCT	0.296																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1017_1019delAAG	2.37:g.61315535_61315537delAAG	ENSP00000385579:p.Arg341del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AF0|Q6ZND0|Q96JI6	In_Frame_Del	DEL	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.R341in_frame_del	ENST00000402291.1	37	c.1017_1019	CCDS46296.1	2																																																																																			KIAA1841	-	pfam_DUF3342	ENSG00000162929		0.296	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	63	0.00	0	AAG	NM_032506		61315532	61315534	+1	no_errors	ENST00000356719	ensembl	human	known	69_37n	in_frame_del	45	34.78	24	DEL	1.000:1.000:1.000	-
KIAA2022	340533	genome.wustl.edu	37	X	73962127	73962127	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:73962127T>C	ENST00000055682.6	-	3	2876	c.2265A>G	c.(2263-2265)tcA>tcG	p.S755S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	755					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AATTAGCCTTTGAGGATTGGT	0.393																																						dbGAP											0													70.0	68.0	69.0					X																	73962127		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2265A>G	X.37:g.73962127T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	NULL	p.S755	ENST00000055682.6	37	c.2265	CCDS35337.1	X																																																																																			KIAA2022	-	NULL	ENSG00000050030		0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	533	0.00	0	T	NM_001008537		73962127	73962127	-1	no_errors	ENST00000055682	ensembl	human	known	69_37n	silent	240	31.73	112	SNP	0.000	C
KIF16B	55614	genome.wustl.edu	37	20	16359595	16359595	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:16359595C>T	ENST00000354981.2	-	19	3209	c.3052G>A	c.(3052-3054)Gcg>Acg	p.A1018T	KIF16B_ENST00000378003.2_Missense_Mutation_p.A244T|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1018T|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1018T	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1018	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCTGCAGCGCAGAATGTCTC	0.572																																						dbGAP											0													78.0	82.0	81.0					20																	16359595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3052G>A	20.37:g.16359595C>T	ENSP00000347076:p.Ala1018Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1018T	ENST00000354981.2	37	c.3052	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219791	0.79464	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.75477	-0.64;-0.69;2.24;-0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	L	0.59436	1.845	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.79825	-0.1640	10	0.24483	T	0.36	.	18.8894	0.92392	0.0:1.0:0.0:0.0	.	1018;1018;1018;1018	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	T	1018;1018;862;244;1018	ENSP00000347076:A1018T;ENSP00000347995:A1018T;ENSP00000367242:A244T;ENSP00000384164:A1018T	ENSP00000347076:A1018T	A	-	1	0	KIF16B	16307595	1.000000	0.71417	0.685000	0.30070	0.322000	0.28314	5.520000	0.67080	2.642000	0.89623	0.643000	0.83706	GCG	KIF16B	-	NULL	ENSG00000089177		0.572	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	414	0.00	0	C	NM_017683		16359595	16359595	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	446	18.73	103	SNP	0.998	T
KIF17	57576	genome.wustl.edu	37	1	21014090	21014090	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:21014090G>A	ENST00000247986.2	-	8	2039	c.1729C>T	c.(1729-1731)Ctg>Ttg	p.L577L	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.L577L|KIF17_ENST00000375044.1_Silent_p.L477L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	577					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CACTCATCCAGGAAGTATCTG	0.637																																						dbGAP											0													32.0	34.0	33.0					1																	21014090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1729C>T	1.37:g.21014090G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L577	ENST00000247986.2	37	c.1729	CCDS213.1	1																																																																																			KIF17	-	NULL	ENSG00000117245		0.637	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	87	0.00	0	G	NM_020816		21014090	21014090	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	silent	51	22.73	15	SNP	0.000	A
KIF18A	81930	genome.wustl.edu	37	11	28113051	28113051	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:28113051C>T	ENST00000263181.6	-	4	783	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	165	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CGAATCTGTTCATTATATACC	0.348																																						dbGAP											0													86.0	85.0	86.0					11																	28113051		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.493G>A	11.37:g.28113051C>T	ENSP00000263181:p.Glu165Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E165K	ENST00000263181.6	37	c.493	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.580497	0.96565	.	.	ENSG00000121621	ENST00000263181	D	0.83163	-1.69	5.7	5.7	0.88788	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	H	0.99634	4.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97771	1.0226	10	0.87932	D	0	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	165	Q8NI77	KI18A_HUMAN	K	165	ENSP00000263181:E165K	ENSP00000263181:E165K	E	-	1	0	KIF18A	28069627	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.346000	0.79347	2.684000	0.91462	0.650000	0.86243	GAA	KIF18A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000121621		0.348	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	128	0.00	0	C	NM_031217		28113051	28113051	-1	no_errors	ENST00000263181	ensembl	human	known	69_37n	missense	84	41.26	59	SNP	1.000	T
KIF1C	10749	genome.wustl.edu	37	17	4905419	4905419	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:4905419G>T	ENST00000320785.5	+	6	786	c.429G>T	c.(427-429)gaG>gaT	p.E143D		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	143	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ACTCTGTGGAGGTAAGCCCGG	0.577																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0													96.0	84.0	88.0					17																	4905419		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.429+1G>T	17.37:g.4905419G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E143D	ENST00000320785.5	37	c.429	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.508646	0.96386	.	.	ENSG00000129250	ENST00000320785	T	0.75589	-0.95	5.45	5.45	0.79879	Kinesin, motor domain (4);	.	.	.	.	D	0.85843	0.5791	M	0.77103	2.36	0.80722	D	1	P	0.50272	0.933	D	0.64042	0.921	D	0.87015	0.2125	9	0.87932	D	0	.	17.1494	0.86774	0.0:0.0:1.0:0.0	.	143	O43896	KIF1C_HUMAN	D	143	ENSP00000320821:E143D	ENSP00000320821:E143D	E	+	3	2	KIF1C	4846143	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.387000	0.97232	2.740000	0.93945	0.561000	0.74099	GAG	KIF1C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000129250		0.577	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	87	0.00	0	G		Missense_Mutation	4905419	4905419	+1	no_errors	ENST00000320785	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	1.000	T
KIF1C	10749	genome.wustl.edu	37	17	4908271	4908271	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:4908271G>A	ENST00000320785.5	+	13	1498	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	381					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GATGGCTCAGGGACTGTCAGC	0.612																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0													101.0	107.0	105.0					17																	4908271		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1141G>A	17.37:g.4908271G>A	ENSP00000320821:p.Gly381Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G381R	ENST00000320785.5	37	c.1141	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.366400	0.95900	.	.	ENSG00000129250	ENST00000320785	T	0.74421	-0.84	4.82	4.82	0.62117	.	.	.	.	.	D	0.84129	0.5404	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85409	0.1136	9	0.72032	D	0.01	.	15.8184	0.78621	0.0:0.0:1.0:0.0	.	381	O43896	KIF1C_HUMAN	R	381	ENSP00000320821:G381R	ENSP00000320821:G381R	G	+	1	0	KIF1C	4848995	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.611000	0.98342	2.671000	0.90904	0.655000	0.94253	GGA	KIF1C	-	NULL	ENSG00000129250		0.612	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	64	0.00	0	G			4908271	4908271	+1	no_errors	ENST00000320785	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91478521	91478521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:91478521delT	ENST00000371728.3	+	12	1391	c.1326delT	c.(1324-1326)agtfs	p.S442fs	KIF20B_ENST00000260753.4_Frame_Shift_Del_p.S442fs|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.S442fs|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.S442fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	442	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTCAAAGTTTTTTTAATG	0.323																																						dbGAP											0													57.0	60.0	59.0					10																	91478521		2202	4295	6497	-	-	-	SO:0001589	frameshift_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1326delT	10.37:g.91478521delT	ENSP00000360793:p.Ser442fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F444fs	ENST00000371728.3	37	c.1326		10																																																																																			KIF20B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138182		0.323	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	81	0.00	0	T	NM_016195		91478521	91478521	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	frame_shift_del	54	16.92	11	DEL	0.995	-
KIF21A	55605	genome.wustl.edu	37	12	39725549	39725549	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:39725549G>A	ENST00000361418.5	-	22	3111	c.3096C>T	c.(3094-3096)tgC>tgT	p.C1032C	KIF21A_ENST00000395670.3_Silent_p.C1032C|KIF21A_ENST00000361961.3_Silent_p.C1019C|KIF21A_ENST00000544797.2_Silent_p.C1019C|KIF21A_ENST00000541463.2_Silent_p.C996C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1032					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGTAAGGGTGCAGGCATTAA	0.398																																						dbGAP											0													190.0	168.0	175.0					12																	39725549		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3096C>T	12.37:g.39725549G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	superfamily_Prefoldin	p.A290V	ENST00000361418.5	37	c.869	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309304	0.23821	.	.	ENSG00000139116	ENST00000552961	.	.	.	5.96	2.69	0.31865	.	.	.	.	.	T	0.62417	0.2426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60037	-0.7341	4	.	.	.	.	12.2804	0.54760	0.2635:0.0:0.7365:0.0	.	.	.	.	V	380	.	.	A	-	2	0	KIF21A	38011816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.912000	0.39946	0.838000	0.34948	0.655000	0.94253	GCA	KIF21A	-	superfamily_Prefoldin	ENSG00000139116		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	261	0.00	0	G	NM_017641		39725549	39725549	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000547108	ensembl	human	known	69_37n	missense	212	16.54	42	SNP	1.000	A
KIF23	9493	genome.wustl.edu	37	15	69732289	69732289	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:69732289G>A	ENST00000260363.4	+	16	1877	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	KIF23_ENST00000537891.1_Missense_Mutation_p.R404H|KIF23_ENST00000559279.1_Missense_Mutation_p.R587H|KIF23_ENST00000352331.4_Missense_Mutation_p.R587H|KIF23_ENST00000395392.2_Missense_Mutation_p.R587H|KIF23_ENST00000558585.1_Missense_Mutation_p.R404H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	587					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GAAGATAAACGCAATTTGCAA	0.383																																						dbGAP											0													77.0	74.0	75.0					15																	69732289		2199	4298	6497	-	-	-	SO:0001583	missense	0			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1760G>A	15.37:g.69732289G>A	ENSP00000260363:p.Arg587His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R587H	ENST00000260363.4	37	c.1760	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006741	0.93287	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.7	4.77	0.60923	.	0.047622	0.85682	D	0.000000	T	0.68100	0.2964	L	0.34521	1.04	0.54753	D	0.999989	D;D;D	0.89917	0.96;1.0;0.991	B;P;P	0.62014	0.097;0.897;0.8	T	0.70791	-0.4776	10	0.54805	T	0.06	.	15.6788	0.77352	0.0:0.1374:0.8626:0.0	.	404;587;587	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	587;587;587;404	ENSP00000260363:R587H;ENSP00000304978:R587H;ENSP00000378790:R587H;ENSP00000442969:R404H	ENSP00000260363:R587H	R	+	2	0	KIF23	67519343	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.886000	0.87288	1.375000	0.46248	0.655000	0.94253	CGC	KIF23	-	NULL	ENSG00000137807		0.383	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		90	0.00	0	G			69732289	69732289	+1	no_errors	ENST00000260363	ensembl	human	known	69_37n	missense	78	28.44	31	SNP	1.000	A
KIF3C	3797	genome.wustl.edu	37	2	26204466	26204466	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:26204466C>T	ENST00000264712.3	-	1	900	c.321G>A	c.(319-321)atG>atA	p.M107I	KIF3C_ENST00000405914.1_Missense_Mutation_p.M107I	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	107	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCCCTGCATGGTATAGG	0.597																																						dbGAP											0													76.0	70.0	72.0					2																	26204466		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.321G>A	2.37:g.26204466C>T	ENSP00000264712:p.Met107Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M107I	ENST00000264712.3	37	c.321	CCDS1719.1	2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543110	0.86022	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.80909	-1.43;-1.43	5.62	5.62	0.85841	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	M	0.79614	2.46	0.80722	D	1	D;P	0.76494	0.999;0.927	D;P	0.77557	0.99;0.842	D	0.90380	0.4387	10	0.66056	D	0.02	.	17.1582	0.86797	0.0:1.0:0.0:0.0	.	107;107	B7ZM25;O14782	.;KIF3C_HUMAN	I	107	ENSP00000264712:M107I;ENSP00000385030:M107I	ENSP00000264712:M107I	M	-	3	0	KIF3C	26057970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.637000	0.89404	0.563000	0.77884	ATG	KIF3C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000084731		0.597	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	119	0.00	0	C			26204466	26204466	-1	no_errors	ENST00000264712	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	T
KIF9	64147	genome.wustl.edu	37	3	47284577	47284577	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:47284577G>T	ENST00000265529.3	-	17	2353	c.1673C>A	c.(1672-1674)cCc>cAc	p.P558H	KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Missense_Mutation_p.P558H|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000335044.2_Missense_Mutation_p.P558H|KIF9_ENST00000444589.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	558					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGAGTCTGAGGGAAGGGGCTC	0.502																																					Colon(44;962 1147 15977 24541)	dbGAP											0													102.0	94.0	97.0					3																	47284577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1673C>A	3.37:g.47284577G>T	ENSP00000265529:p.Pro558His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P558H	ENST00000265529.3	37	c.1673	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	G	9.773	1.173307	0.21704	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.44881	0.91;0.91;0.91	5.38	-0.168	0.13343	.	0.526964	0.19788	N	0.106041	T	0.21801	0.0525	N	0.22421	0.69	0.09310	N	1	B	0.30709	0.291	B	0.27262	0.078	T	0.09729	-1.0661	10	0.46703	T	0.11	.	4.181	0.10376	0.2533:0.0:0.5247:0.222	.	558	Q9HAQ2	KIF9_HUMAN	H	558	ENSP00000333942:P558H;ENSP00000265529:P558H;ENSP00000391100:P558H	ENSP00000265529:P558H	P	-	2	0	KIF9	47259581	0.000000	0.05858	0.001000	0.08648	0.596000	0.36781	-0.210000	0.09345	0.242000	0.21303	-0.254000	0.11334	CCC	KIF9	-	NULL	ENSG00000088727		0.502	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	70	0.00	0	G			47284577	47284577	-1	no_errors	ENST00000265529	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.000	T
KIFAP3	22920	genome.wustl.edu	37	1	169961353	169961353	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:169961353G>A	ENST00000361580.2	-	11	1454	c.1227C>T	c.(1225-1227)caC>caT	p.H409H	KIFAP3_ENST00000367765.1_Silent_p.H369H|KIFAP3_ENST00000540905.1_Silent_p.H111H|KIFAP3_ENST00000538366.1_Silent_p.H331H|KIFAP3_ENST00000367767.1_Silent_p.H365H	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	409					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATGCTTATGTGGTAAAGAA	0.303																																						dbGAP											0													143.0	126.0	132.0					1																	169961353		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1227C>T	1.37:g.169961353G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H409	ENST00000361580.2	37	c.1227	CCDS1288.1	1																																																																																			KIFAP3	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000075945		0.303	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	75	0.00	0	G	NM_014970		169961353	169961353	-1	no_errors	ENST00000361580	ensembl	human	known	69_37n	silent	64	20.00	16	SNP	1.000	A
KL	9365	genome.wustl.edu	37	13	33638251	33638252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:33638251_33638252insT	ENST00000380099.3	+	5	2975_2976	c.2967_2968insT	c.(2968-2970)tttfs	p.F990fs	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	990					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TAGCTTTTCTATTTTTTGCTTC	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2973dupT	13.37:g.33638257_33638257dupT	ENSP00000369442:p.Phe990fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Frame_Shift_Ins	INS	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A991fs	ENST00000380099.3	37	c.2967_2968	CCDS9347.1	13																																																																																			KL	-	NULL	ENSG00000133116		0.337	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	144	0.00	0	-			33638251	33638252	+1	no_errors	ENST00000380099	ensembl	human	known	69_37n	frame_shift_ins	146	19.34	35	INS	0.002:0.000	T
KLF12	11278	genome.wustl.edu	37	13	74387010	74387010	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:74387010delT	ENST00000377669.2	-	4	833				KLF12_ENST00000377666.4_Intron|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAATAACAATTTTTTTTTTT	0.303																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.806+278A>-	13.37:g.74387010delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	RNA	DEL	-	NULL	ENST00000377669.2	37	NULL	CCDS9449.1	13																																																																																			KLF12	-	-	ENSG00000118922		0.303	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF12	HGNC	protein_coding	OTTHUMT00000045271.2	20	0.00	0	T	NM_007249		74387010	74387010	-1	no_errors	ENST00000472022	ensembl	human	known	69_37n	rna	14	26.32	5	DEL	0.001	-
KLHDC3	116138	genome.wustl.edu	37	6	42984952	42984952	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:42984952C>A	ENST00000326974.4	+	2	217	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	KLHDC3_ENST00000332245.8_Missense_Mutation_p.L8M|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	8					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACAGTGCACCTGGAGGGCGG	0.617																																						dbGAP											0													85.0	94.0	91.0					6																	42984952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.22C>A	6.37:g.42984952C>A	ENSP00000313995:p.Leu8Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.L8M	ENST00000326974.4	37	c.22	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482280	0.63962	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000332245	T;T	0.09445	2.98;3.01	5.41	4.54	0.55810	Kelch-type beta propeller (1);	0.345242	0.26935	N	0.021758	T	0.19485	0.0468	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.964;0.96	T	0.00986	-1.1490	10	0.66056	D	0.02	.	10.7888	0.46422	0.0:0.799:0.0:0.201	.	8;8;8	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	M	8	ENSP00000313995:L8M;ENSP00000331562:L8M	ENSP00000313995:L8M	L	+	1	2	KLHDC3	43092930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.431000	0.59915	1.418000	0.47098	0.655000	0.94253	CTG	KLHDC3	-	NULL	ENSG00000124702		0.617	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	21	0.00	0	C	NM_057161		42984952	42984952	+1	no_errors	ENST00000326974	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	A
KLHL14	57565	genome.wustl.edu	37	18	30321985	30321985	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:30321985T>C	ENST00000359358.4	-	3	1413	c.975A>G	c.(973-975)ttA>ttG	p.L325L	KLHL14_ENST00000358095.4_Silent_p.L325L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	325						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTCCAACCAATAACAGCATTT	0.423																																						dbGAP											0													96.0	90.0	92.0					18																	30321985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.975A>G	18.37:g.30321985T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	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.L325	ENST00000359358.4	37	c.975	CCDS32813.1	18																																																																																			KLHL14	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.423	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	101	0.00	0	T			30321985	30321985	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	silent	98	16.24	19	SNP	0.998	C
KLHL2	11275	genome.wustl.edu	37	4	166160017	166160017	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:166160017C>T	ENST00000226725.6	+	4	606	c.347C>T	c.(346-348)aCt>aTt	p.T116I	KLHL2_ENST00000538127.1_Missense_Mutation_p.T28I|KLHL2_ENST00000506761.1_5'Flank|KLHL2_ENST00000514860.1_Missense_Mutation_p.T120I|KLHL2_ENST00000421009.2_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	116	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TATGTTTACACTGCAGAAATT	0.363																																						dbGAP											0													115.0	111.0	112.0					4																	166160017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.347C>T	4.37:g.166160017C>T	ENSP00000226725:p.Thr116Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T116I	ENST00000226725.6	37	c.347	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752777	0.89753	.	.	ENSG00000109466	ENST00000226725;ENST00000509704;ENST00000514860;ENST00000538127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.42	5.42	0.78866	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.052595	0.85682	D	0.000000	D	0.85678	0.5752	M	0.93638	3.44	0.80722	D	1	P;P	0.38535	0.635;0.635	P;P	0.44811	0.461;0.461	D	0.88523	0.3097	10	0.66056	D	0.02	.	19.2261	0.93819	0.0:1.0:0.0:0.0	.	120;116	B4DFH7;O95198	.;KLHL2_HUMAN	I	116;78;120;28	ENSP00000226725:T116I;ENSP00000421324:T78I;ENSP00000424198:T120I;ENSP00000437526:T28I	ENSP00000226725:T116I	T	+	2	0	KLHL2	166379467	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.787000	0.85759	2.543000	0.85770	0.585000	0.79938	ACT	KLHL2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000109466		0.363	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	202	0.00	0	C			166160017	166160017	+1	no_errors	ENST00000226725	ensembl	human	known	69_37n	missense	185	14.35	31	SNP	1.000	T
KLHL31	401265	genome.wustl.edu	37	6	53519885	53519885	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:53519885A>G	ENST00000407079.1	-	1	185	c.186T>C	c.(184-186)ggT>ggC	p.G62G	KLHL31_ENST00000370905.3_Silent_p.G62G			Q9H511	KLH31_HUMAN	kelch-like family member 31	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTTTACTTAAACCTTCCAAGA	0.438																																						dbGAP											0													79.0	75.0	76.0					6																	53519885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.186T>C	6.37:g.53519885A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6N9J2|B2RP49	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G62	ENST00000407079.1	37	c.186	CCDS34478.1	6																																																																																			KLHL31	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.438	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	71	0.00	0	A	NM_001003760		53519885	53519885	-1	no_errors	ENST00000370905	ensembl	human	known	69_37n	silent	40	35.48	22	SNP	0.012	G
KLK5	25818	genome.wustl.edu	37	19	51452297	51452298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:51452297_51452298insC	ENST00000336334.3	-	4	761_762	c.409_410insG	c.(409-411)gtcfs	p.V137fs	CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Frame_Shift_Ins_p.V137fs|KLK5_ENST00000391809.2_Frame_Shift_Ins_p.V137fs|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GATGGATTTGACCCCCTGGAAC	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.410dupG	19.37:g.51452302_51452302dupC	ENSP00000337733:p.Val137fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZR3|Q9HBG8	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V137fs	ENST00000336334.3	37	c.410_409	CCDS12810.1	19																																																																																			KLK5	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167754		0.530	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	32	0.00	0	-	NM_012427		51452297	51452298	-1	no_errors	ENST00000336334	ensembl	human	known	69_37n	frame_shift_ins	23	37.84	14	INS	0.004:0.000	C
KPNA3	3839	genome.wustl.edu	37	13	50279782	50279782	+	Missense_Mutation	SNP	T	T	C	rs372027513		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:50279782T>C	ENST00000261667.3	-	15	1761	c.1347A>G	c.(1345-1347)atA>atG	p.I449M		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	449					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTATTTCAGCTATTGTGCTTG	0.378																																						dbGAP											0													263.0	244.0	251.0					13																	50279782		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1347A>G	13.37:g.50279782T>C	ENSP00000261667:p.Ile449Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.I449M	ENST00000261667.3	37	c.1347	CCDS9421.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.485552|3.485552	0.63962|0.63962	.|.	.|.	ENSG00000102753|ENSG00000102753	ENST00000261667|ENST00000436760	T|.	0.33654|.	1.4|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56949|.	0.2020|.	L|L	0.42686|0.42686	1.345|1.345	0.58432|0.58432	D|D	0.999997|0.999997	P|.	0.46020|.	0.871|.	P|.	0.50617|.	0.646|.	T|.	0.55366|.	-0.8152|.	10|.	0.52906|.	T|.	0.07|.	-14.8459|-14.8459	10.1018|10.1018	0.42509|0.42509	0.2579:0.0:0.0:0.7421|0.2579:0.0:0.0:0.7421	.|.	449|.	O00505|.	IMA3_HUMAN|.	M|W	449|36	ENSP00000261667:I449M|.	ENSP00000261667:I449M|.	I|X	-|-	3|2	3|0	KPNA3|KPNA3	49177783|49177783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.376000|1.376000	0.34306|0.34306	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	ATA|TAG	KPNA3	-	superfamily_ARM-type_fold	ENSG00000102753		0.378	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	160	0.00	0	T	NM_002267		50279782	50279782	-1	no_errors	ENST00000261667	ensembl	human	known	69_37n	missense	144	22.58	42	SNP	1.000	C
KRIT1	889	genome.wustl.edu	37	7	91870426	91870426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:91870426delT	ENST00000340022.2	-	5	1161	c.143delA	c.(142-144)aagfs	p.K48fs	KRIT1_ENST00000394507.1_Frame_Shift_Del_p.K48fs|KRIT1_ENST00000412043.2_Frame_Shift_Del_p.K48fs|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Frame_Shift_Del_p.K48fs|KRIT1_ENST00000394505.2_Frame_Shift_Del_p.K48fs	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	48	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCTTTCTCTTTTTTTTCTG	0.333																																						dbGAP											0													123.0	111.0	115.0					7																	91870426		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.143delA	7.37:g.91870426delT	ENSP00000344668:p.Lys48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Frame_Shift_Del	DEL	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.K48fs	ENST00000340022.2	37	c.143	CCDS5624.1	7																																																																																			KRIT1	-	NULL	ENSG00000001631		0.333	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	53	0.00	0	T			91870426	91870426	-1	no_errors	ENST00000340022	ensembl	human	known	69_37n	frame_shift_del	30	16.67	6	DEL	0.999	-
KRT27	342574	genome.wustl.edu	37	17	38935967	38935967	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:38935967G>A	ENST00000301656.3	-	4	871	c.831C>T	c.(829-831)gcC>gcT	p.A277A	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CGTTGAACCAGGCCTCCGCGT	0.657																																						dbGAP											0													37.0	36.0	37.0					17																	38935967		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.831C>T	17.37:g.38935967G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.A277	ENST00000301656.3	37	c.831	CCDS11375.1	17																																																																																			KRT27	-	pfam_F,superfamily_Prefoldin	ENSG00000171446		0.657	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	58	0.00	0	G	NM_181537		38935967	38935967	-1	no_errors	ENST00000301656	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	1.000	A
KRT20	54474	genome.wustl.edu	37	17	39041193	39041193	+	Missense_Mutation	SNP	G	G	A	rs147128896		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:39041193G>A	ENST00000167588.3	-	1	286	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	82	Coil 1A.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TAGGTAGCTCGCTAGACGGTC	0.547																																						dbGAP											0													94.0	82.0	86.0					17																	39041193		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.245C>T	17.37:g.39041193G>A	ENSP00000167588:p.Ala82Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6W7	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.A82V	ENST00000167588.3	37	c.245	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.096217	0.94197	.	.	ENSG00000171431	ENST00000167588	D	0.95137	-3.62	5.79	5.79	0.91817	Filament (1);	0.000000	0.64402	D	0.000011	D	0.97648	0.9229	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97894	1.0299	10	0.87932	D	0	.	20.0314	0.97540	0.0:0.0:1.0:0.0	.	82	P35900	K1C20_HUMAN	V	82	ENSP00000167588:A82V	ENSP00000167588:A82V	A	-	2	0	KRT20	36294719	1.000000	0.71417	0.883000	0.34634	0.504000	0.33889	9.514000	0.98013	2.737000	0.93849	0.655000	0.94253	GCG	KRT20	-	pfam_F	ENSG00000171431		0.547	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	92	0.00	0	G			39041193	39041193	-1	no_errors	ENST00000167588	ensembl	human	known	69_37n	missense	99	12.39	14	SNP	1.000	A
KRT83	3889	genome.wustl.edu	37	12	52713036	52713036	+	Missense_Mutation	SNP	G	G	A	rs200690744	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:52713036G>A	ENST00000293670.3	-	2	559	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	166	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCCGCAGAGTCTCGATGTA	0.597																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	dbGAP											0													91.0	104.0	100.0					12																	52713036		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.497C>T	12.37:g.52713036G>A	ENSP00000293670:p.Thr166Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T166I	ENST00000293670.3	37	c.497	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947311	0.73672	.	.	ENSG00000170523	ENST00000293670	T	0.74947	-0.89	4.81	4.81	0.61882	Filament (1);	0.000000	0.43919	U	0.000501	D	0.82277	0.5002	M	0.67700	2.07	0.30237	N	0.795371	D	0.53312	0.959	P	0.62649	0.905	T	0.80759	-0.1239	10	0.72032	D	0.01	.	11.6708	0.51399	0.0:0.0:0.6971:0.3029	.	166	P78385	KRT83_HUMAN	I	166	ENSP00000293670:T166I	ENSP00000293670:T166I	T	-	2	0	KRT83	50999303	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	3.907000	0.56348	2.378000	0.81104	0.563000	0.77884	ACT	KRT83	-	pfam_F	ENSG00000170523		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	185	0.00	0	G	NM_002282		52713036	52713036	-1	no_errors	ENST00000293670	ensembl	human	known	69_37n	missense	95	21.31	26	SNP	0.998	A
KRT8	3856	genome.wustl.edu	37	12	53292614	53292614	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:53292614C>T	ENST00000552551.1	-	7	1483	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KRT8_ENST00000546897.1_Missense_Mutation_p.A351T|KRT8_ENST00000293308.6_Missense_Mutation_p.A351T|KRT8_ENST00000552150.1_Missense_Mutation_p.A379T			P05787	K2C8_HUMAN	keratin 8	351	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.A351T(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	GACAACTTGGCGTTGGCATCC	0.637																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											50.0	49.0	49.0					12																	53292614		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1051G>A	12.37:g.53292614C>T	ENSP00000447566:p.Ala351Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.A351T	ENST00000552551.1	37	c.1051	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023713	0.08006	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	3.85	0.504	0.16946	Filament (1);	0.741337	0.12546	N	0.459495	T	0.66237	0.2769	L	0.49699	1.58	0.09310	N	1	B;B	0.15473	0.011;0.013	B;B	0.15052	0.012;0.012	T	0.52170	-0.8611	10	0.33940	T	0.23	.	3.7344	0.08504	0.1673:0.3997:0.0:0.433	.	379;351	F8VXB4;P05787	.;K2C8_HUMAN	T	351;351;351;379	ENSP00000447566:A351T;ENSP00000293308:A351T;ENSP00000447402:A351T;ENSP00000449404:A379T	ENSP00000293308:A351T	A	-	1	0	KRT8	51578881	0.000000	0.05858	0.067000	0.19924	0.003000	0.03518	-0.122000	0.10627	-0.035000	0.13691	0.561000	0.74099	GCC	KRT8	-	pfam_F,prints_Keratin_II,prints_Keratin_I	ENSG00000170421		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1	87	0.00	0	C	NM_002273		53292614	53292614	-1	no_errors	ENST00000293308	ensembl	human	known	69_37n	missense	42	40.00	28	SNP	0.001	T
KRTAP10-12	386685	genome.wustl.edu	37	21	46117231	46117231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:46117231delC	ENST00000400365.3	+	1	145	c.115delC	c.(115-117)cccfs	p.P40fs	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	40	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTGCTGTGAGCCCCCCTGCTG	0.682																																						dbGAP											0													51.0	58.0	56.0					21																	46117231		2069	4213	6282	-	-	-	SO:0001589	frameshift_variant	0			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.115delC	21.37:g.46117231delC	ENSP00000383216:p.Pro40fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA3	Frame_Shift_Del	DEL	NULL	p.C41fs	ENST00000400365.3	37	c.115	CCDS42967.1	21																																																																																			KRTAP10-12	-	NULL	ENSG00000189169		0.682	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-12	HGNC	protein_coding	OTTHUMT00000128032.1	271	0.00	0	C	NM_198699		46117231	46117231	+1	no_errors	ENST00000400365	ensembl	human	known	69_37n	frame_shift_del	199	16.18	39	DEL	1.000	-
KRTAP10-9	386676	genome.wustl.edu	37	21	46047173	46047173	+	Frame_Shift_Del	DEL	C	C	-	rs200057010		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:46047173delC	ENST00000397911.3	+	1	134	c.85delC	c.(85-87)cccfs	p.P30fs	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	30	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGCTGTGAGCCCCCCTGCTG	0.697																																						dbGAP											0													39.0	48.0	45.0					21																	46047173		2190	4287	6477	-	-	-	SO:0001589	frameshift_variant	0			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.85delC	21.37:g.46047173delC	ENSP00000381009:p.Pro30fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG1|A6NIR9|Q70LJ1	Frame_Shift_Del	DEL	NULL	p.C31fs	ENST00000397911.3	37	c.85	CCDS42961.1	21																																																																																			KRTAP10-9	-	NULL	ENSG00000221837		0.697	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	HGNC	protein_coding	OTTHUMT00000128040.1	73	0.00	0	C			46047173	46047173	+1	no_errors	ENST00000397911	ensembl	human	known	69_37n	frame_shift_del	40	40.28	29	DEL	0.998	-
KRTAP5-1	387264	genome.wustl.edu	37	11	1606216	1606217	+	Frame_Shift_Ins	INS	-	-	C	rs138500744	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:1606216_1606217insC	ENST00000382171.2	-	1	296_297	c.263_264insG	c.(262-264)ggcfs	p.G88fs	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	88	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCCTTGCA	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.264dupG	11.37:g.1606222_1606222dupC	ENSP00000371606:p.Gly88fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.C89fs	ENST00000382171.2	37	c.264_263	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.668	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1	96	0.00	0	-	NM_001005922		1606216	1606217	-1	no_errors	ENST00000382171	ensembl	human	known	69_37n	frame_shift_ins	87	11.22	11	INS	0.992:0.975	C
L3MBTL3	84456	genome.wustl.edu	37	6	130399761	130399761	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:130399761A>C	ENST00000529410.1	+	16	1782	c.1303A>C	c.(1303-1305)Acc>Ccc	p.T435P	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.T435P|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.T410P|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.T435P|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.T410P|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.T410P			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	435					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACATAGAAGAACCCTTATTAC	0.368																																						dbGAP											0													171.0	167.0	168.0					6																	130399761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1303A>C	6.37:g.130399761A>C	ENSP00000431962:p.Thr435Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.T435P	ENST00000529410.1	37	c.1303	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239546	0.22711	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	5.48	3.05	0.35203	.	0.189061	0.56097	D	0.000027	T	0.03695	0.0105	N	0.03304	-0.355	0.27607	N	0.948784	B;B	0.28850	0.225;0.0	B;B	0.30029	0.11;0.002	T	0.46527	-0.9185	10	0.02654	T	1	.	8.2163	0.31514	0.776:0.0:0.224:0.0	.	410;435	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	P	435;410;435;410;410;435	ENSP00000431962:T435P;ENSP00000437185:T410P;ENSP00000354526:T435P;ENSP00000357121:T410P;ENSP00000436706:T410P;ENSP00000357118:T435P	ENSP00000354526:T435P	T	+	1	0	L3MBTL3	130441454	0.021000	0.18746	0.939000	0.37840	0.989000	0.77384	0.493000	0.22451	0.373000	0.24621	0.528000	0.53228	ACC	L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000198945		0.368	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	206	0.00	0	A	XM_027074		130399761	130399761	+1	no_errors	ENST00000361794	ensembl	human	known	69_37n	missense	178	13.17	27	SNP	0.220	C
LACTB2	51110	genome.wustl.edu	37	8	71553137	71553137	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:71553137C>A	ENST00000276590.4	-	5	777	c.741G>T	c.(739-741)aaG>aaT	p.K247N	LACTB2_ENST00000522447.1_Splice_Site_p.K247N|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|RP11-382J12.1_ENST00000518553.1_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	247						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAAAATTACCTTGTAAATAA	0.274																																						dbGAP											0													22.0	23.0	23.0					8																	71553137		2192	4281	6473	-	-	-	SO:0001630	splice_region_variant	0			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.741+1G>T	8.37:g.71553137C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D6|Q9Y392	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.K247N	ENST00000276590.4	37	c.741	CCDS6208.1	8	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887757	0.72410	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.18338	2.22;2.22	5.65	5.65	0.86999	.	0.150056	0.64402	D	0.000018	T	0.31231	0.0790	M	0.80508	2.5	0.80722	D	1	P	0.44139	0.827	P	0.44860	0.462	T	0.06197	-1.0840	10	0.23302	T	0.38	-23.0595	19.7832	0.96426	0.0:1.0:0.0:0.0	.	247	Q53H82	LACB2_HUMAN	N	247	ENSP00000428801:K247N;ENSP00000276590:K247N	ENSP00000276590:K247N	K	-	3	2	LACTB2	71715691	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.331000	0.79192	2.679000	0.91253	0.567000	0.79289	AAG	LACTB2	-	NULL	ENSG00000147592		0.274	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB2	HGNC	protein_coding	OTTHUMT00000378748.1	41	0.00	0	C	NM_016027	Missense_Mutation	71553137	71553137	-1	no_errors	ENST00000276590	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	1.000	A
LARP7	51574	genome.wustl.edu	37	4	113570754	113570754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:113570754delA	ENST00000344442.5	+	9	1484	c.1206delA	c.(1204-1206)ttafs	p.L402fs	MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Del_p.L409fs|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.L402fs	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	402					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T405fs*5(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGGCTTCTTTAAAAAAAACAA	0.333																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)											46.0	45.0	45.0					4																	113570754		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1206delA	4.37:g.113570754delA	ENSP00000344950:p.Leu402fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Del	DEL	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.T405fs	ENST00000344442.5	37	c.1206	CCDS3701.2	4																																																																																			LARP7	-	NULL	ENSG00000174720		0.333	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	45	0.00	0	A	NM_016648		113570754	113570754	+1	no_errors	ENST00000324052	ensembl	human	known	69_37n	frame_shift_del	51	17.19	11	DEL	1.000	-
LCE5A	254910	genome.wustl.edu	37	1	152484252	152484252	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:152484252G>A	ENST00000334269.2	+	2	418	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	81	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCGACGCCGACCTCAGAGT	0.677																																						dbGAP											0													31.0	36.0	34.0					1																	152484252		2200	4293	6493	-	-	-	SO:0001583	missense	0			BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.242G>A	1.37:g.152484252G>A	ENSP00000333952:p.Arg81Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R81Q	ENST00000334269.2	37	c.242	CCDS1011.1	1	.	.	.	.	.	.	.	.	.	.	G	5.715	0.316374	0.10789	.	.	ENSG00000186207	ENST00000334269	T	0.03920	3.76	5.09	4.18	0.49190	.	.	.	.	.	T	0.04952	0.0133	M	0.83774	2.66	0.09310	N	1	D	0.62365	0.991	P	0.45558	0.485	T	0.21759	-1.0236	9	0.87932	D	0	-7.5563	9.3862	0.38345	0.0963:0.0:0.9037:0.0	.	81	Q5TCM9	LCE5A_HUMAN	Q	81	ENSP00000333952:R81Q	ENSP00000333952:R81Q	R	+	2	0	LCE5A	150750876	0.002000	0.14202	0.004000	0.12327	0.003000	0.03518	0.919000	0.28692	1.372000	0.46190	0.603000	0.83216	CGA	LCE5A	-	NULL	ENSG00000186207		0.677	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE5A	HGNC	protein_coding	OTTHUMT00000040059.1	53	0.00	0	G	NM_178438		152484252	152484252	+1	no_errors	ENST00000334269	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.000	A
LCOR	84458	genome.wustl.edu	37	10	98709040	98709040	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:98709040C>T	ENST00000371097.4	+	6	772	c.226C>T	c.(226-228)Cct>Tct	p.P76S	LCOR_ENST00000356016.3_Missense_Mutation_p.P76S|LCOR_ENST00000371103.3_Missense_Mutation_p.P76S|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000540664.1_Missense_Mutation_p.P76S			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	76					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TCAGTCAGAACCTAGCGAACA	0.453																																						dbGAP											0													148.0	144.0	145.0					10																	98709040		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.226C>T	10.37:g.98709040C>T	ENSP00000360138:p.Pro76Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.P76S	ENST00000371097.4	37	c.226	CCDS7451.1	10	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775974	0.31411	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	4.85	3.87	0.44632	.	0.664012	0.15280	N	0.270754	T	0.45836	0.1362	L	0.43152	1.355	0.36008	D	0.837854	B;B	0.14012	0.005;0.009	B;B	0.12156	0.007;0.003	T	0.42344	-0.9457	9	0.06625	T	0.88	-4.0097	13.5749	0.61868	0.0:0.7139:0.2861:0.0	.	76;76	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	S	76	.	ENSP00000348298:P76S	P	+	1	0	LCOR	98699030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.690000	0.37711	2.379000	0.81126	0.650000	0.86243	CCT	LCOR	-	NULL	ENSG00000196233		0.453	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2	241	0.00	0	C			98709040	98709040	+1	no_errors	ENST00000356016	ensembl	human	known	69_37n	missense	133	27.32	50	SNP	1.000	T
LENEP	55891	genome.wustl.edu	37	1	154966135	154966135	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:154966135G>T	ENST00000392487.1	+	1	72	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	18					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCCTCGGAGGGGCCCCTCG	0.627																																						dbGAP											0													56.0	56.0	56.0					1																	154966135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.52G>T	1.37:g.154966135G>T	ENSP00000376278:p.Gly18Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM1|Q5T1A4	Missense_Mutation	SNP	NULL	p.G18W	ENST00000392487.1	37	c.52	CCDS1080.1	1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086151	0.07097	.	.	ENSG00000163352	ENST00000392487	.	.	.	4.9	1.84	0.25277	.	0.800548	0.10350	N	0.685165	T	0.28995	0.0720	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.50378	0.639	T	0.07404	-1.0774	8	0.66056	D	0.02	-0.3426	7.687	0.28546	0.0962:0.4533:0.4505:0.0	.	18	Q9Y5L5	LENEP_HUMAN	W	18	.	ENSP00000357412:G18W	G	+	1	0	LENEP	153232759	0.038000	0.19896	0.079000	0.20413	0.116000	0.19942	0.493000	0.22451	0.657000	0.30906	0.563000	0.77884	GGG	LENEP	-	NULL	ENSG00000163352		0.627	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	HGNC	protein_coding	OTTHUMT00000385609.2	42	0.00	0	G	NM_018655		154966135	154966135	+1	no_errors	ENST00000368427	ensembl	human	known	69_37n	missense	51	13.56	8	SNP	0.218	T
LGALS3	3958	genome.wustl.edu	37	14	55604413	55604413	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:55604413G>A	ENST00000254301.9	+	2	279				LGALS3_ENST00000553755.1_Intron|LGALS3_ENST00000554715.1_Intron	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3						eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GGGAAGTGCGGTACAGTCTGG	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.18+304G>A	14.37:g.55604413G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC38|Q16005|Q6IBA7|Q96J47	Splice_Site	SNP	-	NULL	ENST00000254301.9	37	c.NULL	CCDS41956.1	14																																																																																			LGALS3	-	-	ENSG00000131981		0.498	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3	HGNC	protein_coding	OTTHUMT00000411309.1	21	0.00	0	G	NM_002306		55604413	55604413	+1	no_errors	ENST00000556322	ensembl	human	known	69_37n	splice_site	7	30.00	3	SNP	0.000	A
LGR5	8549	genome.wustl.edu	37	12	71977911	71977911	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:71977911C>T	ENST00000266674.5	+	18	2432	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	LGR5_ENST00000536515.1_Silent_p.G635G|LGR5_ENST00000540815.2_Silent_p.G683G|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	707					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCAAGTATGGCGCCTCCCCTC	0.552																																						dbGAP											0													138.0	137.0	138.0					12																	71977911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2121C>T	12.37:g.71977911C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.G707	ENST00000266674.5	37	c.2121	CCDS9000.1	12																																																																																			LGR5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt	ENSG00000139292		0.552	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	268	0.00	0	C	NM_003667		71977911	71977911	+1	no_errors	ENST00000266674	ensembl	human	known	69_37n	silent	247	19.28	59	SNP	0.021	T
LGSN	51557	genome.wustl.edu	37	6	63990607	63990607	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:63990607A>G	ENST00000370657.4	-	4	882	c.849T>C	c.(847-849)ttT>ttC	p.F283F	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	283					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCTGAGGGTAAATGCATTAT	0.428																																						dbGAP											0													51.0	49.0	49.0					6																	63990607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.849T>C	6.37:g.63990607A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.F283	ENST00000370657.4	37	c.849	CCDS4964.1	6																																																																																			LGSN	-	pfam_Gln_synth_cat_dom	ENSG00000146166		0.428	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	87	0.00	0	A	NM_016571		63990607	63990607	-1	no_errors	ENST00000370657	ensembl	human	known	69_37n	silent	82	14.58	14	SNP	0.994	G
LIG3	3980	genome.wustl.edu	37	17	33319012	33319012	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:33319012T>C	ENST00000378526.4	+	7	1377	c.1244T>C	c.(1243-1245)tTg>tCg	p.L415S	LIG3_ENST00000262327.5_Missense_Mutation_p.L415S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	415					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ATCATCAGGTTGATCAAACAT	0.458								Other BER factors																														dbGAP											0													153.0	135.0	141.0					17																	33319012		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1244T>C	17.37:g.33319012T>C	ENSP00000367787:p.Leu415Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.L415S	ENST00000378526.4	37	c.1244	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554211	0.86231	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.20738	2.05;2.05	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.139618	0.48286	D	0.000186	T	0.43942	0.1270	M	0.78049	2.395	0.80722	D	1	D;D;D	0.59767	0.986;0.986;0.986	D;D;P	0.64877	0.93;0.93;0.897	T	0.30060	-0.9991	10	0.20046	T	0.44	-12.3339	14.9457	0.71029	0.0:0.0:0.0:1.0	.	415;415;415	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	S	415	ENSP00000367787:L415S;ENSP00000262327:L415S	ENSP00000262327:L415S	L	+	2	0	LIG3	30343125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	TTG	LIG3	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.458	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	160	0.00	0	T	NM_013975		33319012	33319012	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	missense	117	17.02	24	SNP	1.000	C
LIMCH1	22998	genome.wustl.edu	37	4	41621389	41621390	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:41621389_41621390delAG	ENST00000313860.7	+	8	921_922	c.867_868delAG	c.(865-870)gcagagfs	p.E290fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.E136fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.E136fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.E290fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.E131fs|LIMCH1_ENST00000509454.1_Frame_Shift_Del_p.E138fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.E290fs|LIMCH1_ENST00000509638.1_Frame_Shift_Del_p.E131fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.E131fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.E290fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.E131fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.E290fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.E136fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.E143fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	290					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGAAGAAAGCAGAGAGAGAGGA	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.867_868delAG	4.37:g.41621397_41621398delAG	ENSP00000316891:p.Glu290fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E133fs	ENST00000313860.7	37	c.390_391	CCDS33977.1	4																																																																																			LIMCH1	-	NULL	ENSG00000064042		0.594	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	162	0.00	0	AG	NM_014988		41621389	41621390	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	frame_shift_del	105	36.47	62	DEL	0.000:0.999	-
LIMCH1	22998	genome.wustl.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						dbGAP											2	Deletion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E810fs	ENST00000313860.7	37	c.2418_2419	CCDS33977.1	4																																																																																			LIMCH1	-	NULL	ENSG00000064042		0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	310	0.64	2	GA	NM_014988		41648508	41648509	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	frame_shift_del	214	14.84	38	DEL	0.997:1.000	-
LIMK1	3984	genome.wustl.edu	37	7	73535310	73535311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:73535310_73535311insC	ENST00000336180.2	+	15	1763_1764	c.1712_1713insC	c.(1711-1716)tgccccfs	p.CP571fs	LIMK1_ENST00000538333.3_Frame_Shift_Ins_p.CP537fs|LIMK1_ENST00000418310.1_Frame_Shift_Ins_p.CP601fs	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GACCGCTACTGCCCCCCAAACT	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1718dupC	7.37:g.73535316_73535316dupC	ENSP00000336740:p.Cys571fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N574fs	ENST00000336180.2	37	c.1712_1713	CCDS5563.1	7																																																																																			LIMK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000106683		0.644	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	127	0.78	1	-	NM_002314		73535310	73535311	+1	no_errors	ENST00000336180	ensembl	human	known	69_37n	frame_shift_ins	57	21.92	16	INS	1.000:0.994	C
LINGO4	339398	genome.wustl.edu	37	1	151774033	151774033	+	Frame_Shift_Del	DEL	G	G	-	rs538232735		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:151774033delG	ENST00000368820.3	-	2	2085	c.1148delC	c.(1147-1149)cctfs	p.P383fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	383	LRRCT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACAGGCAGGGGGGGACAT	0.632																																						dbGAP											0													31.0	34.0	33.0					1																	151774033		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1148delC	1.37:g.151774033delG	ENSP00000357810:p.Pro383fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P383fs	ENST00000368820.3	37	c.1148	CCDS30855.1	1																																																																																			LINGO4	-	smart_Cys-rich_flank_reg_C	ENSG00000213171		0.632	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	91	0.00	0	G	XM_291387		151774033	151774033	-1	no_errors	ENST00000368820	ensembl	human	known	69_37n	frame_shift_del	69	17.65	15	DEL	1.000	-
LIPN	643418	genome.wustl.edu	37	10	90537856	90537856	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:90537856G>A	ENST00000404459.1	+	9	1054	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	352					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		ACCCCAGGATGTGGCCAGGAT	0.493																																						dbGAP											0													137.0	130.0	133.0					10																	90537856		1979	4146	6125	-	-	-	SO:0001583	missense	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.1054G>A	10.37:g.90537856G>A	ENSP00000383923:p.Val352Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KIH9	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.V352M	ENST00000404459.1	37	c.1054	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373486	0.61624	.	.	ENSG00000204020	ENST00000404459	T	0.72051	-0.62	5.21	3.37	0.38596	Alpha/beta hydrolase fold-1 (1);	0.356175	0.24251	N	0.040168	T	0.78457	0.4286	M	0.87900	2.915	0.30944	N	0.725546	D	0.56521	0.976	P	0.51866	0.682	T	0.79584	-0.1743	10	0.62326	D	0.03	-7.8073	8.9768	0.35941	0.2401:0.0:0.7599:0.0	.	352	Q5VXI9	LIPN_HUMAN	M	352	ENSP00000383923:V352M	ENSP00000383923:V352M	V	+	1	0	LIPN	90527836	0.094000	0.21725	0.742000	0.31022	0.918000	0.54935	0.700000	0.25601	0.904000	0.36572	0.643000	0.83706	GTG	LIPN	-	pfam_AB_hydrolase_1	ENSG00000204020		0.493	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	91	0.00	0	G	XM_926751		90537856	90537856	+1	no_errors	ENST00000404459	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	0.999	A
LMAN1L	79748	genome.wustl.edu	37	15	75111609	75111609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:75111609delG	ENST00000309664.5	+	6	853	c.714delG	c.(712-714)ctgfs	p.L238fs	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.L238fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	238	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGCACCCTGGCAGGTGAGG	0.582																																						dbGAP											0													135.0	140.0	138.0					15																	75111609		2197	4296	6493	-	-	-	SO:0001589	frameshift_variant	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.714delG	15.37:g.75111609delG	ENSP00000310431:p.Leu238fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWN2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.A239fs	ENST00000309664.5	37	c.714	CCDS10270.1	15																																																																																			LMAN1L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	ENSG00000140506		0.582	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	62	0.00	0	G			75111609	75111609	+1	no_errors	ENST00000309664	ensembl	human	known	69_37n	frame_shift_del	20	29.03	9	DEL	0.995	-
LMO7	4008	genome.wustl.edu	37	13	76415789	76415789	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:76415789G>A	ENST00000321797.8	+	22	3723	c.3002G>A	c.(3001-3003)aGc>aAc	p.S1001N	LMO7_ENST00000377534.3_Missense_Mutation_p.S1286N|LMO7_ENST00000357063.3_Missense_Mutation_p.S1286N|LMO7_ENST00000341547.4_Missense_Mutation_p.S952N|LMO7_ENST00000465261.2_Missense_Mutation_p.S1001N|LMO7_ENST00000526202.1_Missense_Mutation_p.S878N			Q8WWI1	LMO7_HUMAN	LIM domain 7	1286					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTCAAACAGCATGTCTCTG	0.453																																						dbGAP											0													83.0	83.0	83.0					13																	76415789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3002G>A	13.37:g.76415789G>A	ENSP00000317802:p.Ser1001Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S1286N	ENST00000321797.8	37	c.3857		13	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097492	0.37048	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	6.06	-1.46	0.08800	.	0.713049	0.15483	N	0.259981	T	0.23846	0.0577	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.13145	0.001;0.002;0.006;0.001;0.007	B;B;B;B;B	0.09377	0.002;0.004;0.003;0.002;0.004	T	0.11251	-1.0595	10	0.36615	T	0.2	-2.4623	4.7012	0.12828	0.4803:0.0:0.2707:0.249	.	878;952;1286;1001;1234	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	N	952;1286;1286;900;1001;878;1001	ENSP00000342112:S952N;ENSP00000349571:S1286N;ENSP00000366757:S1286N;ENSP00000366719:S900N;ENSP00000317802:S1001N;ENSP00000431129:S878N;ENSP00000433352:S1001N	ENSP00000317802:S1001N	S	+	2	0	LMO7	75313790	0.005000	0.15991	0.014000	0.15608	0.818000	0.46254	-0.360000	0.07622	-0.148000	0.11234	0.655000	0.94253	AGC	LMO7	-	NULL	ENSG00000136153		0.453	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	221	0.00	0	G	NM_005358		76415789	76415789	+1	no_errors	ENST00000357063	ensembl	human	known	69_37n	missense	141	38.43	88	SNP	0.001	A
LMTK2	22853	genome.wustl.edu	37	7	97822930	97822930	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:97822930C>T	ENST00000297293.5	+	11	3446	c.3153C>T	c.(3151-3153)acC>acT	p.T1051T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1051					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCGAGGGCACCGCAGACTCAG	0.627																																						dbGAP											0													39.0	42.0	41.0					7																	97822930		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3153C>T	7.37:g.97822930C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1051	ENST00000297293.5	37	c.3153	CCDS5654.1	7																																																																																			LMTK2	-	NULL	ENSG00000164715		0.627	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	58	0.00	0	C	NM_014916		97822930	97822930	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	silent	50	33.33	25	SNP	0.000	T
LNPEP	4012	genome.wustl.edu	37	5	96315249	96315249	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:96315249delA	ENST00000231368.5	+	2	1119	c.427delA	c.(427-429)aaafs	p.K144fs	LNPEP_ENST00000395770.3_Frame_Shift_Del_p.K130fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	144					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGGCTGCCATAAAAAAAACCA	0.448																																						dbGAP											0													70.0	73.0	72.0					5																	96315249		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.427delA	5.37:g.96315249delA	ENSP00000231368:p.Lys144fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N145fs	ENST00000231368.5	37	c.427	CCDS4087.1	5																																																																																			LNPEP	-	NULL	ENSG00000113441		0.448	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	242	0.00	0	A	NM_005575		96315249	96315249	+1	no_errors	ENST00000231368	ensembl	human	known	69_37n	frame_shift_del	164	23.72	51	DEL	0.910	-
LPA	4018	genome.wustl.edu	37	6	161021955	161021956	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:161021955_161021956insA	ENST00000316300.5	-	19	3164_3165	c.3120_3121insT	c.(3118-3123)tttgaafs	p.E1041fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.E1041fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3549	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTACCTTGTTCAAAAAAAGCCT	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3121dupT	6.37:g.161021962_161021962dupA	ENSP00000321334:p.Glu1041fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Frame_Shift_Ins	INS	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.E1040fs	ENST00000316300.5	37	c.3121_3120	CCDS43523.1	6																																																																																			LPA	-	NULL	ENSG00000198670		0.505	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	159	0.62	1	-	NM_005577		161021955	161021956	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	frame_shift_ins	127	14.19	21	INS	0.007:0.002	A
LPA	4018	genome.wustl.edu	37	6	161056206	161056206	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:161056206C>T	ENST00000316300.5	-	7	1068	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	LPA_ENST00000447678.1_Missense_Mutation_p.A342T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2850	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTCGGAGGCGCGACGGCAGTC	0.562																																						dbGAP											0													25.0	36.0	33.0					6																	161056206		1411	3497	4908	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.1024G>A	6.37:g.161056206C>T	ENSP00000321334:p.Ala342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.A342T	ENST00000316300.5	37	c.1024	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	1.562	-0.536511	0.04082	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62232	0.04;0.04	1.99	-1.42	0.08913	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.16685	0.0401	L	0.35487	1.065	0.09310	N	1	P	0.42123	0.771	B	0.31442	0.13	T	0.14035	-1.0487	9	0.15066	T	0.55	.	4.931	0.13917	0.0:0.3884:0.0:0.6116	.	2850	P08519	APOA_HUMAN	T	342	ENSP00000321334:A342T;ENSP00000395608:A342T	ENSP00000321334:A342T	A	-	1	0	LPA	160976196	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.203000	0.03019	-0.301000	0.08882	-1.206000	0.01644	GCG	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.562	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	220	0.00	0	C	NM_005577		161056206	161056206	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	182	13.74	29	SNP	0.000	T
LPGAT1	9926	genome.wustl.edu	37	1	211952290	211952290	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:211952290C>A	ENST00000366997.4	-	6	1050	c.824G>T	c.(823-825)aGg>aTg	p.R275M	LPGAT1_ENST00000366996.1_Missense_Mutation_p.R275M	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	275					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGTTGGTTTCCTGTATCCAAG	0.358																																						dbGAP											0													172.0	174.0	173.0					1																	211952290		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.824G>T	1.37:g.211952290C>A	ENSP00000355964:p.Arg275Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YL2	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.R275M	ENST00000366997.4	37	c.824	CCDS31018.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.083612	0.94050	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.37058	1.22;1.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70846	-0.4761	10	0.59425	D	0.04	-22.8752	20.32	0.98661	0.0:1.0:0.0:0.0	.	275	Q92604	LGAT1_HUMAN	M	275	ENSP00000355964:R275M;ENSP00000355963:R275M	ENSP00000355963:R275M	R	-	2	0	LPGAT1	210018913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.204000	0.77872	2.808000	0.96608	0.549000	0.68633	AGG	LPGAT1	-	NULL	ENSG00000123684		0.358	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1	113	0.00	0	C	NM_014873		211952290	211952290	-1	no_errors	ENST00000366996	ensembl	human	known	69_37n	missense	169	17.16	35	SNP	1.000	A
LRBA	987	genome.wustl.edu	37	4	151231401	151231401	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:151231401C>A	ENST00000357115.3	-	53	8105	c.7862G>T	c.(7861-7863)aGa>aTa	p.R2621I	LRBA_ENST00000510413.1_Missense_Mutation_p.R2610I|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Missense_Mutation_p.R2610I	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2621						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGAATAGACTCTGAAACTTTT	0.373																																						dbGAP											0													72.0	74.0	73.0					4																	151231401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7862G>T	4.37:g.151231401C>A	ENSP00000349629:p.Arg2621Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom	p.E1263*	ENST00000357115.3	37	c.3787	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.615437|4.615437	0.87359|0.87359	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	4.78|4.78	4.78|4.78	0.61160|0.61160	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.166012	.|0.41396	.|D	.|0.000893	.|T	.|0.57636	.|0.2067	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|0.998;0.959;0.829;1.0	.|D;D;P;D	.|0.87578	.|0.991;0.929;0.46;0.998	.|T	.|0.62478	.|-0.6846	.|10	.|0.62326	.|D	.|0.03	.|.	18.1745|18.1745	0.89757|0.89757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2621;2610;2610;516	.|P50851;F5H1X8;P50851-2;Q68D03	.|LRBA_HUMAN;.;.;.	X|I	1263|2610;2610;2621	.|ENSP00000446299:R2610I;ENSP00000421552:R2610I;ENSP00000349629:R2621I	.|ENSP00000349629:R2621I	E|R	-|-	1|2	0|0	LRBA|LRBA	151450851|151450851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.084000|6.084000	0.71335|0.71335	2.353000|2.353000	0.79882|0.79882	0.563000|0.563000	0.77884|0.77884	GAG|AGA	LRBA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198589		0.373	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	62	0.00	0	C			151231401	151231401	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509835	ensembl	human	novel	69_37n	nonsense	66	10.81	8	SNP	1.000	A
LRCH1	23143	genome.wustl.edu	37	13	47297426	47297426	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:47297426G>T	ENST00000389798.3	+	16	1922	c.1725G>T	c.(1723-1725)caG>caT	p.Q575H	LRCH1_ENST00000311191.6_Missense_Mutation_p.Q575H|LRCH1_ENST00000389797.3_Missense_Mutation_p.Q610H	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	575										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAATGGAGCAGATGAGAGAAG	0.373																																						dbGAP											0													90.0	92.0	91.0					13																	47297426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1725G>T	13.37:g.47297426G>T	ENSP00000374448:p.Gln575His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.Q575H	ENST00000389798.3	37	c.1725	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587281	0.46110	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56103	0.52;0.55;0.48	5.83	2.79	0.32731	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.60845	1.875	0.50467	D	0.999872	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.91635	0.987;0.999;0.999	T	0.57854	-0.7739	10	0.29301	T	0.29	-11.1143	7.9555	0.30040	0.3717:0.0:0.6283:0.0	.	575;610;575	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	H	575;575;610	ENSP00000308493:Q575H;ENSP00000374448:Q575H;ENSP00000374447:Q610H	ENSP00000308493:Q575H	Q	+	3	2	LRCH1	46195427	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	2.313000	0.43735	0.826000	0.34661	0.650000	0.86243	CAG	LRCH1	-	superfamily_CH-domain	ENSG00000136141		0.373	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	107	0.00	0	G	NM_015116		47297426	47297426	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	missense	84	19.23	20	SNP	1.000	T
LRG1	116844	genome.wustl.edu	37	19	4538288	4538288	+	Silent	SNP	C	C	T	rs200554386		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587																																						dbGAP											0													204.0	221.0	215.0					19																	4538288		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.708G>A	19.37:g.4538288C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4F5|Q96QZ4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P236	ENST00000306390.6	37	c.708	CCDS12130.1	19																																																																																			LRG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	144	0.68	1	C	NM_052972		4538288	4538288	-1	no_errors	ENST00000306390	ensembl	human	known	69_37n	silent	27	52.63	30	SNP	0.000	T
LRP1	4035	genome.wustl.edu	37	12	57556255	57556255	+	Silent	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:57556255G>C	ENST00000243077.3	+	14	2824	c.2358G>C	c.(2356-2358)cgG>cgC	p.R786R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	786					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGTGAGCGGCCCCCCATCT	0.612																																						dbGAP											0													90.0	80.0	84.0					12																	57556255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2358G>C	12.37:g.57556255G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R786	ENST00000243077.3	37	c.2358	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	63	0.00	0	G	NM_002332		57556255	57556255	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	silent	40	45.21	33	SNP	0.969	C
LRP5	4041	genome.wustl.edu	37	11	68133068	68133068	+	Missense_Mutation	SNP	G	G	A	rs377176311		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:68133068G>A	ENST00000294304.7	+	5	1019	c.913G>A	c.(913-915)Ggc>Agc	p.G305S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	305	EGF-like 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACAATGGCGGCTGCTCCCA	0.577																																						dbGAP											0													89.0	92.0	91.0					11																	68133068		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.913G>A	11.37:g.68133068G>A	ENSP00000294304:p.Gly305Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G305S	ENST00000294304.7	37	c.913	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132633	0.77662	.	.	ENSG00000162337	ENST00000294304	D	0.98164	-4.76	3.51	3.51	0.40186	Epidermal growth factor-like (1);	0.000000	0.46758	U	0.000266	D	0.98169	0.9395	M	0.93939	3.475	0.80722	D	1	B	0.31077	0.307	B	0.32289	0.143	D	0.99952	1.1557	10	0.66056	D	0.02	.	16.3209	0.82951	0.0:0.0:1.0:0.0	.	305	O75197	LRP5_HUMAN	S	305	ENSP00000294304:G305S	ENSP00000294304:G305S	G	+	1	0	LRP5	67889644	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	6.252000	0.72447	2.285000	0.76669	0.455000	0.32223	GGC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EGF-like	ENSG00000162337		0.577	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	59	0.00	0	G	NM_002335		68133068	68133068	+1	no_errors	ENST00000294304	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	A
LRP6	4040	genome.wustl.edu	37	12	12312058	12312058	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:12312058C>T	ENST00000261349.4	-	12	2572	c.2496G>A	c.(2494-2496)ttG>ttA	p.L832L	LRP6_ENST00000543091.1_Silent_p.L832L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	832	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGGATGAGGCAAGTCATCTG	0.463																																						dbGAP											0													93.0	80.0	84.0					12																	12312058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2496G>A	12.37:g.12312058C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C697Y	ENST00000261349.4	37	c.2090	CCDS8647.1	12																																																																																			LRP6	-	smart_LDLR_classB_rpt	ENSG00000070018		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	89	0.00	0	C			12312058	12312058	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538239	ensembl	human	known	69_37n	missense	54	39.33	35	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44145165	44145165	+	Splice_Site	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:44145165delT	ENST00000260665.7	-	29	3204	c.3147delA	c.(3145-3147)aaa>aa	p.K1049fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1049					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGCTTGCCTTTTTTTTGGT	0.453																																						dbGAP											0													91.0	89.0	90.0					2																	44145165		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3148+1A>-	2.37:g.44145165delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A1051fs	ENST00000260665.7	37	c.3147	CCDS33189.1	2																																																																																			LRPPRC	-	NULL	ENSG00000138095		0.453	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	52	0.00	0	T	NM_133259	Frame_Shift_Del	44145165	44145165	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	frame_shift_del	51	17.74	11	DEL	0.844	-
LRR1	122769	genome.wustl.edu	37	14	50074610	50074610	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:50074610A>G	ENST00000298288.6	+	3	1099	c.775A>G	c.(775-777)Aat>Gat	p.N259D	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	259					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACTTGACGATAATGAATTGAT	0.393																																						dbGAP											0													49.0	51.0	51.0					14																	50074610		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.775A>G	14.37:g.50074610A>G	ENSP00000298288:p.Asn259Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N259D	ENST00000298288.6	37	c.775	CCDS9686.1	14	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500024	0.85176	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.33216	1.42	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.93283	3.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.76421	-0.2965	10	0.87932	D	0	-26.0619	16.5284	0.84344	1.0:0.0:0.0:0.0	.	281;259	A8MSW2;Q96L50	.;LLR1_HUMAN	D	259;281	ENSP00000298288:N259D	ENSP00000298288:N259D	N	+	1	0	LRR1	49144360	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.022000	0.93678	2.307000	0.77673	0.529000	0.55759	AAT	LRR1	-	NULL	ENSG00000165501		0.393	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	60	0.00	0	A	NM_203467		50074610	50074610	+1	no_errors	ENST00000298288	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	1.000	G
LRRC14B	389257	genome.wustl.edu	37	5	195153	195153	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:195153C>A	ENST00000328278.3	+	2	1258	c.1230C>A	c.(1228-1230)acC>acA	p.T410T	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	410										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GCCTCTTCACCGCACTCTGTG	0.687																																						dbGAP											0													42.0	49.0	47.0					5																	195153		1988	4151	6139	-	-	-	SO:0001819	synonymous_variant	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1230C>A	5.37:g.195153C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T410	ENST00000328278.3	37	c.1230	CCDS47184.1	5																																																																																			LRRC14B	-	NULL	ENSG00000185028		0.687	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	30	0.00	0	C	NM_001080478		195153	195153	+1	no_errors	ENST00000328278	ensembl	human	novel	69_37n	silent	12	57.14	16	SNP	0.000	A
NRROS	375387	genome.wustl.edu	37	3	196388498	196388499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:196388498_196388499insC	ENST00000328557.4	+	3	2187_2188	c.1984_1985insC	c.(1984-1986)accfs	p.T662fs		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	662					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CAGCTGCCTCACCCTGCTGGTG	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1987dupC	3.37:g.196388501_196388501dupC	ENSP00000328625:p.Thr662fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L663fs	ENST00000328557.4	37	c.1984_1985	CCDS3319.1	3																																																																																			LRRC33	-	NULL	ENSG00000174004		0.634	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC33	HGNC	protein_coding	OTTHUMT00000340676.1	59	0.00	0	-	NM_198565		196388498	196388499	+1	no_errors	ENST00000328557	ensembl	human	known	69_37n	frame_shift_ins	40	13.04	6	INS	1.000:1.000	C
LRRC41	10489	genome.wustl.edu	37	1	46751495	46751495	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:46751495delG	ENST00000343304.6	-	4	1319	c.1034delC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGAGGTGGCTGGGGGGTGCAG	0.617																																						dbGAP											0													53.0	54.0	54.0					1																	46751495		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1034delC	1.37:g.46751495delG	ENSP00000343298:p.Pro345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P345fs	ENST00000343304.6	37	c.1034	CCDS533.1	1																																																																																			LRRC41	-	NULL	ENSG00000132128		0.617	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	148	0.00	0	G	NM_006369		46751495	46751495	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	frame_shift_del	118	25.32	40	DEL	0.616	-
LRRIQ1	84125	genome.wustl.edu	37	12	85547514	85547515	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:85547514_85547515insA	ENST00000393217.2	+	22	4676_4677	c.4615_4616insA	c.(4615-4617)gaafs	p.E1539fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1539								p.I1542fs*8(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCTGAAAAAGAAAAAAAAATT	0.287																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								14,3396		0,14,1691						5.7	1.0			17	51,7677		1,49,3814	no	frameshift	LRRIQ1	NM_001079910.1		1,63,5505	A1A1,A1R,RR		0.6599,0.4106,0.5836				65,11073				-	-	-	SO:0001589	frameshift_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4624dupA	12.37:g.85547523_85547523dupA	ENSP00000376910:p.Glu1539fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.I1542fs	ENST00000393217.2	37	c.4615_4616	CCDS41816.1	12																																																																																			LRRIQ1	-	NULL	ENSG00000133640		0.287	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	21	0.00	0	-	NM_032165		85547514	85547515	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	1.000:1.000	A
LRRK2	120892	genome.wustl.edu	37	12	40657647	40657647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:40657647delA	ENST00000298910.7	+	14	1658	c.1600delA	c.(1600-1602)aaafs	p.K535fs	LRRK2_ENST00000343742.2_Frame_Shift_Del_p.K535fs	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	535					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAATATGGTTAAAAAACAGTG	0.294																																						dbGAP											0													83.0	87.0	86.0					12																	40657647		2203	4296	6499	-	-	-	SO:0001589	frameshift_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1600delA	12.37:g.40657647delA	ENSP00000298910:p.Lys535fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.K535fs	ENST00000298910.7	37	c.1600	CCDS31774.1	12																																																																																			LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	239	0.00	0	A	XM_058513		40657647	40657647	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	frame_shift_del	236	17.36	50	DEL	0.012	-
LRRN1	57633	genome.wustl.edu	37	3	3888334	3888334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:3888334delA	ENST00000319331.3	+	2	2770	c.2009delA	c.(2008-2010)caafs	p.Q670fs	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	670						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAGTATATGCAAAAAACCTCT	0.423																																						dbGAP											0													45.0	48.0	47.0					3																	3888334		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2009delA	3.37:g.3888334delA	ENSP00000314901:p.Gln670fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T672fs	ENST00000319331.3	37	c.2009	CCDS33685.1	3																																																																																			LRRN1	-	NULL	ENSG00000175928		0.423	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	136	0.00	0	A	NM_020873		3888334	3888334	+1	no_errors	ENST00000319331	ensembl	human	known	69_37n	frame_shift_del	81	33.61	41	DEL	1.000	-
LRRN4	164312	genome.wustl.edu	37	20	6022293	6022296	+	Frame_Shift_Del	DEL	CCTT	CCTT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CCTT	CCTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:6022293_6022296delCCTT	ENST00000378858.4	-	5	1819_1822	c.1595_1598delAAGG	c.(1594-1599)gaagggfs	p.EG532fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	532	Poly-Glu.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTCCTTCCTCCCTTCCTCCTCCTC	0.647																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1595_1598delAAGG	20.37:g.6022293_6022296delCCTT	ENSP00000368135:p.Glu532fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E532fs	ENST00000378858.4	37	c.1598_1595	CCDS13097.1	20																																																																																			LRRN4	-	NULL	ENSG00000125872		0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	93	0.00	0	CCTT	NM_152611		6022293	6022296	-1	no_errors	ENST00000378858	ensembl	human	known	69_37n	frame_shift_del	37	28.85	15	DEL	0.000:0.035:0.028:0.079	-
LSG1	55341	genome.wustl.edu	37	3	194386349	194386351	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	ATC	ATC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:194386349_194386351delATC	ENST00000265245.5	-	5	770_772	c.456_458delGAT	c.(454-459)ctgata>cta	p.I153del	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	153					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TGGAGTCAATATCAGCTTCTGTT	0.33																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.456_458delGAT	3.37:g.194386349_194386351delATC	ENSP00000265245:p.Ile153del	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	In_Frame_Del	DEL	pfam_GTP_binding_domain,prints_GTP_binding_domain	p.I153in_frame_del	ENST00000265245.5	37	c.458_456	CCDS33922.1	3																																																																																			LSG1	-	NULL	ENSG00000041802		0.330	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSG1	HGNC	protein_coding	OTTHUMT00000342740.1	157	0.00	0	ATC	NM_018385		194386349	194386351	-1	no_errors	ENST00000265245	ensembl	human	known	69_37n	in_frame_del	175	12.44	25	DEL	0.981:0.979:0.982	-
LSR	51599	genome.wustl.edu	37	19	35739784	35739784	+	Start_Codon_SNP	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:35739784G>A	ENST00000361790.3	+	1	162	c.3G>A	c.(1-3)atG>atA	p.M1I	LSR_ENST00000354900.3_Start_Codon_SNP_p.M1I|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000602122.1_Start_Codon_SNP_p.M1I|LSR_ENST00000597933.1_Intron|LSR_ENST00000360798.3_Start_Codon_SNP_p.M1I|LSR_ENST00000427250.1_5'Flank|LSR_ENST00000347609.4_Start_Codon_SNP_p.M1I	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	1					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTTCCAGAATGCAACAGGACG	0.592																																						dbGAP											0													61.0	61.0	61.0					19																	35739784		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.3G>A	19.37:g.35739784G>A	ENSP00000354575:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like	p.M1I	ENST00000361790.3	37	c.3	CCDS12450.1	19	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900934	0.33535	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609	T;T;T;T	0.59502	0.59;0.69;0.36;0.26	3.29	-6.09	0.02145	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.09310	N	0.999996	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.40384	-0.9566	8	0.87932	D	0	1.6055	6.2735	0.20966	0.2648:0.5485:0.1867:0.0	.	1;1;1;1;1	Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;LSR_HUMAN	I	1	ENSP00000354575:M1I;ENSP00000346976:M1I;ENSP00000354034:M1I;ENSP00000262627:M1I	ENSP00000262627:M1I	M	+	3	0	LSR	40431624	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.147000	0.16202	-0.859000	0.04105	-0.339000	0.08088	ATG	LSR	-	NULL	ENSG00000105699		0.592	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2	19	0.00	0	G	NM_015925	Missense_Mutation	35739784	35739784	+1	no_errors	ENST00000361790	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.000	A
LYST	1130	genome.wustl.edu	37	1	235993390	235993390	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:235993390delT	ENST00000389794.3	-	3	367				LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAGGTCCACTTTTTTTTTAG	0.289																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.192+135A>-	1.37:g.235993390delT		Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	RNA	DEL	-	NULL	ENST00000389794.3	37	NULL	CCDS31062.1	1																																																																																			LYST	-	-	ENSG00000143669		0.289	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	31	0.00	0	T			235993390	235993390	-1	no_errors	ENST00000468626	ensembl	human	known	69_37n	rna	29	30.95	13	DEL	0.005	-
LZTS1	11178	genome.wustl.edu	37	8	20112381	20112381	+	Frame_Shift_Del	DEL	G	G	-	rs184099726		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:20112381delG	ENST00000381569.1	-	2	669	c.312delC	c.(310-312)cccfs	p.P104fs	LZTS1_ENST00000522290.1_Frame_Shift_Del_p.P104fs|LZTS1_ENST00000265801.6_Frame_Shift_Del_p.P104fs			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	104					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCATGAGCTTGGGGGGTGTGG	0.602																																						dbGAP											0													37.0	38.0	38.0					8																	20112381		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.312delC	8.37:g.20112381delG	ENSP00000370981:p.Pro104fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Frame_Shift_Del	DEL	pfam_Fez1	p.K105fs	ENST00000381569.1	37	c.312	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.602	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	31	0.00	0	G	NM_021020		20112381	20112381	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	frame_shift_del	12	35.00	7	DEL	0.989	-
MAGI3	260425	genome.wustl.edu	37	1	114225754	114225755	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:114225754_114225755insA	ENST00000307546.9	+	21	3639_3640	c.3564_3565insA	c.(3565-3567)aaafs	p.K1189fs	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1214					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTCTCCAGAAAAATGTGAG	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3569dupA	1.37:g.114225759_114225759dupA	ENSP00000304604:p.Lys1189fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Ins	INS	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.N1189fs	ENST00000307546.9	37	c.3564_3565	CCDS44196.1	1																																																																																			MAGI3	-	NULL	ENSG00000081026		0.381	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	110	0.00	0	-	NM_152900		114225754	114225755	+1	no_errors	ENST00000307546	ensembl	human	novel	69_37n	frame_shift_ins	95	16.67	19	INS	0.989:0.998	A
MAGOH	4116	genome.wustl.edu	37	1	53699579	53699579	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:53699579G>A	ENST00000371470.3	-	3	309				MAGOH_ENST00000462941.1_Intron|MAGOH_ENST00000371466.4_Intron	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CCTTCTGCCTGCCCACATACC	0.488																																					Colon(150;521 2416 7674 18129)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.148-255C>T	1.37:g.53699579G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARP8|B2R5A2|O35169|P50606|Q5SW69	RNA	SNP	-	NULL	ENST00000371470.3	37	NULL	CCDS577.1	1																																																																																			MAGOH	-	-	ENSG00000162385		0.488	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOH	HGNC	protein_coding	OTTHUMT00000024730.1	32	0.00	0	G	NM_002370		53699579	53699579	-1	no_errors	ENST00000495868	ensembl	human	known	69_37n	rna	21	16.00	4	SNP	0.009	A
MAGOHB	55110	genome.wustl.edu	37	12	10766111	10766111	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:10766111G>A	ENST00000320756.2	-	1	111	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MAGOHB_ENST00000539554.1_Intron|MAGOHB_ENST00000381881.2_Silent_p.F7F	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	7					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						AGCGCAGGTAGAAATCGCTAG	0.602																																						dbGAP											0													88.0	83.0	85.0					12																	10766111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.21C>T	12.37:g.10766111G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.F7	ENST00000320756.2	37	c.21	CCDS8628.1	12																																																																																			MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi	ENSG00000111196		0.602	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	90	0.00	0	G	NM_018048		10766111	10766111	-1	no_errors	ENST00000320756	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	1.000	A
MALAT1	378938	genome.wustl.edu	37	11	65269498	65269498	+	lincRNA	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:65269498delT	ENST00000534336.1	+	0	4266					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AATGATTTAGTTTTTTTCCCC	0.383																																						dbGAP											0													35.0	36.0	36.0					11																	65269498		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269498delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.383	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	55	0.00	0	T	NR_002819		65269498	65269498	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	38	25.00	13	DEL	0.001	-
MALAT1	378938	genome.wustl.edu	37	11	65271945	65271945	+	lincRNA	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:65271945A>G	ENST00000534336.1	+	0	6713					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGCTTGGAGTAGTGATTGTTG	0.403																																						dbGAP											0													60.0	58.0	59.0					11																	65271945		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271945A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.403	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	89	0.00	0	A	NR_002819		65271945	65271945	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	74	18.48	17	SNP	1.000	G
MAML1	9794	genome.wustl.edu	37	5	179201171	179201171	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:179201171C>A	ENST00000292599.3	+	5	2607	c.2344C>A	c.(2344-2346)Cca>Aca	p.P782T	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCACATTCCACGGCAGAC	0.592																																						dbGAP											0													44.0	45.0	45.0					5																	179201171		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2344C>A	5.37:g.179201171C>A	ENSP00000292599:p.Pro782Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.P782T	ENST00000292599.3	37	c.2344	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641262	0.29157	.	.	ENSG00000161021	ENST00000292599	T	0.26223	1.75	4.94	3.07	0.35406	.	0.251379	0.33712	N	0.004640	T	0.16811	0.0404	L	0.31065	0.9	0.32849	D	0.506441	B	0.09022	0.002	B	0.08055	0.003	T	0.21314	-1.0249	10	0.15499	T	0.54	-3.783	11.35	0.49583	0.1429:0.7196:0.1374:0.0	.	782	Q92585	MAML1_HUMAN	T	782	ENSP00000292599:P782T	ENSP00000292599:P782T	P	+	1	0	MAML1	179133777	0.979000	0.34478	0.029000	0.17559	0.968000	0.65278	2.422000	0.44696	0.440000	0.26502	0.462000	0.41574	CCA	MAML1	-	NULL	ENSG00000161021		0.592	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	42	0.00	0	C	NM_014757		179201171	179201171	+1	no_errors	ENST00000292599	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	0.906	A
MAML3	55534	genome.wustl.edu	37	4	140810631	140810632	+	In_Frame_Ins	INS	-	-	GGT			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:140810631_140810632insGGT	ENST00000509479.2	-	2	2814_2815	c.1958_1959insACC	c.(1957-1959)cct>ccACCt	p.653_653P>PP	MAML3_ENST00000327122.5_In_Frame_Ins_p.497_497P>PP|MAML3_ENST00000398940.1_In_Frame_Ins_p.181_181P>PP	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGCTGTGGAGGTGGCGgctg	0.584																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1956_1958dupACC	4.37:g.140810632_140810634dupGGT	ENSP00000421180:p.Pro654dup	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	pfam_Neuroggenic_mastermind-like_N	p.655in_frame_insP	ENST00000509479.2	37	c.1959_1958	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.584	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	338	0.00	0	-			140810631	140810632	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	in_frame_ins	309	10.17	35	INS	0.201:0.631	GGT
MAML3	55534	genome.wustl.edu	37	4	140810638	140810638	+	Missense_Mutation	SNP	G	G	T	rs533638458	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:140810638G>T	ENST00000509479.2	-	2	2808	c.1952C>A	c.(1951-1953)cCg>cAg	p.P651Q	MAML3_ENST00000327122.5_Missense_Mutation_p.P495Q|MAML3_ENST00000398940.1_Missense_Mutation_p.P179Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGAGGTGGCGgctgctgctg	0.587																																						dbGAP											0													42.0	54.0	50.0					4																	140810638		2194	4299	6493	-	-	-	SO:0001583	missense	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1952C>A	4.37:g.140810638G>T	ENSP00000421180:p.Pro651Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.P651Q	ENST00000509479.2	37	c.1952	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.135093	0.00335	.	.	ENSG00000196782	ENST00000509479;ENST00000327122;ENST00000398940	T	0.30448	1.53	5.47	2.39	0.29439	.	0.325163	0.31897	N	0.006894	T	0.15609	0.0376	N	0.11427	0.14	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.20672	-1.0268	10	0.23891	T	0.37	.	11.5825	0.50900	0.078:0.0:0.7837:0.1383	.	647	Q96JK9	MAML3_HUMAN	Q	651;495;179	ENSP00000421180:P651Q	ENSP00000313316:P495Q	P	-	2	0	MAML3	141030088	0.039000	0.19947	0.001000	0.08648	0.087000	0.18053	1.174000	0.31932	0.137000	0.18759	0.591000	0.81541	CCG	MAML3	-	NULL	ENSG00000196782		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	326	0.00	0	G			140810638	140810638	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	missense	266	16.88	54	SNP	0.021	T
MAMLD1	10046	genome.wustl.edu	37	X	149639040	149639040	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:149639040C>A	ENST00000370401.2	+	4	1505	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L399M|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L374M|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L374M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	399					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGCTGCCCTGGGGCCCGC	0.592																																						dbGAP											0													103.0	99.0	100.0					X																	149639040		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1195C>A	X.37:g.149639040C>A	ENSP00000359428:p.Leu399Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.L374M	ENST00000370401.2	37	c.1120	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768107	0.15983	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.3	0.136	0.14780	.	0.526208	0.16851	N	0.196953	T	0.72252	0.3437	L	0.57536	1.79	0.09310	N	1	D;D;B;D	0.67145	0.994;0.996;0.426;0.996	P;D;B;D	0.63877	0.861;0.919;0.128;0.919	T	0.59947	-0.7358	9	.	.	.	-14.0144	1.5821	0.02636	0.4704:0.2347:0.1131:0.1818	.	361;374;374;399	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	361;399;374;399;374	ENSP00000359428:L399M;ENSP00000414517:L374M;ENSP00000262858:L399M;ENSP00000397438:L374M	.	L	+	1	2	MAMLD1	149389698	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	0.493000	0.22451	0.109000	0.17891	-0.295000	0.09555	CTG	MAMLD1	-	NULL	ENSG00000013619		0.592	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	177	0.00	0	C	NM_005491		149639040	149639040	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	missense	95	27.27	36	SNP	0.001	A
MAP1A	4130	genome.wustl.edu	37	15	43820640	43820640	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:43820640C>T	ENST00000300231.5	+	4	7419	c.6969C>T	c.(6967-6969)agC>agT	p.S2323S	MAP1A_ENST00000382031.1_Silent_p.S2561S|MAP1A_ENST00000399453.1_Silent_p.S2323S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2323					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGCTCCAAGCCTGCCTGGAG	0.627																																						dbGAP											0													26.0	28.0	27.0					15																	43820640		2050	4193	6243	-	-	-	SO:0001819	synonymous_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6969C>T	15.37:g.43820640C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.S2323	ENST00000300231.5	37	c.6969	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.627	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	67	0.00	0	C	NM_002373		43820640	43820640	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	0.000	T
MAP3K4	4216	genome.wustl.edu	37	6	161528958	161528958	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:161528958C>G	ENST00000392142.4	+	21	4224	c.4076C>G	c.(4075-4077)aCc>aGc	p.T1359S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.T1305S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T1355S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T1309S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTGTACACCTGCATCAGC	0.542																																						dbGAP											0													104.0	89.0	94.0					6																	161528958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4076C>G	6.37:g.161528958C>G	ENSP00000375986:p.Thr1359Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T1359S	ENST00000392142.4	37	c.4076	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861842	0.91433	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	N	0.03608	-0.345	0.80722	D	1	P;P;D;D	0.69078	0.729;0.941;0.992;0.997	B;P;D;D	0.73708	0.437;0.683;0.95;0.981	T	0.45308	-0.9270	10	0.41790	T	0.15	-29.1301	18.2419	0.89970	0.0:1.0:0.0:0.0	.	1355;295;1309;1359	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	S	1309;1359;1309;1355;1305	ENSP00000355886:T1309S;ENSP00000375986:T1359S;ENSP00000355887:T1355S;ENSP00000297332:T1305S	ENSP00000297332:T1305S	T	+	2	0	MAP3K4	161448948	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.357000	0.79964	0.561000	0.74099	ACC	MAP3K4	-	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	ENSG00000085511		0.542	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	46	0.00	0	C			161528958	161528958	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	missense	57	10.77	7	SNP	1.000	G
MAPK10	5602	genome.wustl.edu	37	4	87022291	87022291	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:87022291C>T	ENST00000359221.3	-	8	1170	c.644G>A	c.(643-645)gGc>gAc	p.G215D	MAPK10_ENST00000395166.1_Missense_Mutation_p.G177D|MAPK10_ENST00000395160.3_Missense_Mutation_p.G70D|MAPK10_ENST00000361569.2_Missense_Mutation_p.G215D|MAPK10_ENST00000395161.2_Missense_Mutation_p.G215D|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395157.3_Missense_Mutation_p.G70D|MAPK10_ENST00000395169.3_Missense_Mutation_p.G177D|MAPK10_ENST00000449047.2_Missense_Mutation_p.G70D			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGCTTGTGCCTGCTGTCCT	0.468																																						dbGAP											0													127.0	105.0	113.0					4																	87022291		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.644G>A	4.37:g.87022291C>T	ENSP00000352157:p.Gly215Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.G215D	ENST00000359221.3	37	c.644	CCDS34026.1	4	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730688	0.48939	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046344	0.85682	D	0.000000	T	0.48943	0.1528	N	0.20328	0.56	0.80722	D	1	B;B;B;B;B	0.16802	0.002;0.019;0.004;0.015;0.008	B;B;B;B;B	0.23150	0.015;0.044;0.024;0.024;0.016	T	0.45775	-0.9238	10	0.07990	T	0.79	-10.5666	20.1346	0.98019	0.0:1.0:0.0:0.0	.	101;70;177;215;215	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	D	177;215;70;215;177;70;70;215	ENSP00000378598:G177D;ENSP00000352157:G215D;ENSP00000378586:G70D;ENSP00000355297:G215D;ENSP00000378595:G177D;ENSP00000378589:G70D;ENSP00000414469:G70D;ENSP00000378590:G215D	ENSP00000352157:G215D	G	-	2	0	MAPK10	87241315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.885000	0.63142	2.763000	0.94921	0.557000	0.71058	GGC	MAPK10	-	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,prints_MAPK_JNK	ENSG00000109339		0.468	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	92	0.00	0	C			87022291	87022291	-1	no_errors	ENST00000359221	ensembl	human	known	69_37n	missense	88	15.38	16	SNP	1.000	T
MAPK7	5598	genome.wustl.edu	37	17	19284237	19284237	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:19284237T>C	ENST00000308406.5	+	4	1101	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.Y239H|MAPK7_ENST00000299612.7_Missense_Mutation_p.Y100H|MAPK7_ENST00000395604.3_Missense_Mutation_p.Y239H|MFAP4_ENST00000574313.2_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	239	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TTTGCATGAGTATACACAGGC	0.562																																						dbGAP											0													47.0	46.0	46.0					17																	19284237		2203	4300	6503	-	-	-	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.715T>C	17.37:g.19284237T>C	ENSP00000311005:p.Tyr239His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y239H	ENST00000308406.5	37	c.715	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135522	0.77662	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	M	0.92219	3.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.83086	-0.0135	10	0.87932	D	0	-13.5671	12.5026	0.55964	0.0:0.0:0.0:1.0	.	239	Q13164	MK07_HUMAN	H	239;100;239;239;239	ENSP00000311005:Y239H;ENSP00000299612:Y100H;ENSP00000412902:Y239H;ENSP00000378968:Y239H;ENSP00000378966:Y239H	ENSP00000299612:Y100H	Y	+	1	0	MAPK7	19224830	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.805000	0.86005	1.894000	0.54839	0.459000	0.35465	TAT	MAPK7	-	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	ENSG00000166484		0.562	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	49	0.00	0	T	NM_139033		19284237	19284237	+1	no_errors	ENST00000308406	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	1.000	C
MARCH7	64844	genome.wustl.edu	37	2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																						dbGAP											0													63.0	64.0	64.0					2																	160604680		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3	104	0.00	0	T	NM_022826		160604680	160604680	+1	no_errors	ENST00000259050	ensembl	human	known	69_37n	frame_shift_del	82	22.64	24	DEL	0.910	-
MAST1	22983	genome.wustl.edu	37	19	12958741	12958741	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:12958741G>A	ENST00000251472.4	+	7	683	c.644G>A	c.(643-645)gGc>gAc	p.G215D	MAST1_ENST00000591495.1_Missense_Mutation_p.G211D	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGCCGATGGCGTGCTCAGC	0.627											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													54.0	43.0	46.0					19																	12958741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.644G>A	19.37:g.12958741G>A	ENSP00000251472:p.Gly215Asp	Somatic	683	WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,superfamily_MAST_pre-PK_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.W168*	ENST00000251472.4	37	c.504	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.358551	0.95854	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.38077	1.16	4.64	4.64	0.57946	Microtubule-associated serine/threonine-protein kinase, domain (1);Microtubule-associated serine/threonine-protein kinase, pre-PK domain (2);	0.064888	0.64402	D	0.000013	T	0.67618	0.2912	M	0.91354	3.2	0.80722	D	1	D;P	0.89917	1.0;0.843	D;P	0.91635	0.999;0.596	T	0.76605	-0.2898	10	0.87932	D	0	-19.7586	15.3454	0.74334	0.0:0.0:1.0:0.0	.	215;215	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	D	215	ENSP00000251472:G215D	ENSP00000251472:G215D	G	+	2	0	MAST1	12819741	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.796000	0.99103	2.292000	0.77174	0.491000	0.48974	GGC	MAST1	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom	ENSG00000105613		0.627	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	47	0.00	0	G	NM_014975		12958741	12958741	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588379	ensembl	human	putative	69_37n	nonsense	27	33.33	14	SNP	1.000	A
MAST2	23139	genome.wustl.edu	37	1	46485319	46485319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:46485319delA	ENST00000361297.2	+	11	1523	c.1240delA	c.(1240-1242)aaafs	p.K415fs	MAST2_ENST00000372009.2_Frame_Shift_Del_p.K345fs	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCAGCTGGTGAAAAAGCTGAT	0.502																																						dbGAP											0													86.0	84.0	85.0					1																	46485319		1969	4163	6132	-	-	-	SO:0001589	frameshift_variant	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1240delA	1.37:g.46485319delA	ENSP00000354671:p.Lys415fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.K415fs	ENST00000361297.2	37	c.1240	CCDS41326.1	1																																																																																			MAST2	-	pfam_MA_Ser/Thr_Kinase_dom,superfamily_MAST_pre-PK_dom	ENSG00000086015		0.502	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	53	0.00	0	A	NM_015112		46485319	46485319	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	frame_shift_del	44	18.52	10	DEL	1.000	-
MCCC2	64087	genome.wustl.edu	37	5	70898399	70898400	+	Frame_Shift_Ins	INS	-	-	A	rs151098534		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:70898399_70898400insA	ENST00000340941.6	+	5	579_580	c.450_451insA	c.(451-453)aaafs	p.K151fs	MCCC2_ENST00000509358.2_Frame_Shift_Ins_p.K151fs|MCCC2_ENST00000323375.8_Frame_Shift_Ins_p.K151fs|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	151	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CAGTGACTGTGAAAAAACAATT	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.456dupA	5.37:g.70898405_70898405dupA	ENSP00000343657:p.Lys151fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIY9|Q96C27|Q9Y4L7	Frame_Shift_Ins	INS	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.Q152fs	ENST00000340941.6	37	c.450_451	CCDS34184.1	5																																																																																			MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000131844		0.426	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4	290	0.00	0	-			70898399	70898400	+1	no_errors	ENST00000340941	ensembl	human	known	69_37n	frame_shift_ins	160	38.22	99	INS	1.000:1.000	A
MCM7	4176	genome.wustl.edu	37	7	99690708	99690708	+	Silent	SNP	G	G	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:99690708G>C	ENST00000303887.5	-	15	2652	c.2007C>G	c.(2005-2007)gtC>gtG	p.V669V	MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Silent_p.V493V|MCM7_ENST00000343023.6_Silent_p.V339V|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	669	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCCCTGAGACCAGTTCAC	0.552																																						dbGAP											0													66.0	55.0	59.0					7																	99690708		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2007C>G	7.37:g.99690708G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4	p.V669	ENST00000303887.5	37	c.2007	CCDS5683.1	7																																																																																			MCM7	-	NULL	ENSG00000166508		0.552	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	105	0.00	0	G			99690708	99690708	-1	no_errors	ENST00000303887	ensembl	human	known	69_37n	silent	50	25.37	17	SNP	0.957	C
MCOLN2	255231	genome.wustl.edu	37	1	85397106	85397106	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:85397106A>T	ENST00000370608.3	-	12	1548	c.1481T>A	c.(1480-1482)tTt>tAt	p.F494Y	MCOLN2_ENST00000284027.5_Missense_Mutation_p.F466Y	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	494					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F494Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CATATATATAAAAAGGCTGAT	0.358																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											52.0	60.0	58.0					1																	85397106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1481T>A	1.37:g.85397106A>T	ENSP00000359640:p.Phe494Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.F494Y	ENST00000370608.3	37	c.1481	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782562	0.70222	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.69806	-0.43;-0.43	4.78	4.78	0.61160	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.71920	2.185	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.75202	-0.3401	10	0.38643	T	0.18	-17.4445	14.6198	0.68576	1.0:0.0:0.0:0.0	.	494	Q8IZK6	MCLN2_HUMAN	Y	494;466	ENSP00000359640:F494Y;ENSP00000284027:F466Y	ENSP00000284027:F466Y	F	-	2	0	MCOLN2	85169694	1.000000	0.71417	0.793000	0.32043	0.872000	0.50106	8.962000	0.93254	1.932000	0.55993	0.528000	0.53228	TTT	MCOLN2	-	pfam_PKD1_2_channel	ENSG00000153898		0.358	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	175	0.00	0	A	NM_153259		85397106	85397106	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	97	23.02	29	SNP	0.999	T
MCOLN3	55283	genome.wustl.edu	37	1	85491636	85491636	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:85491636C>T	ENST00000370589.2	-	9	1133	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Missense_Mutation_p.E305K|MCOLN3_ENST00000370587.1_3'UTR|MCOLN3_ENST00000474447.1_5'Flank	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	361					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCTTGGATTTCCATTTTTAGA	0.294																																						dbGAP											0													48.0	48.0	48.0					1																	85491636		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1081G>A	1.37:g.85491636C>T	ENSP00000359621:p.Glu361Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.E361K	ENST00000370589.2	37	c.1081	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907233	0.72868	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	D;D	0.83992	-1.79;-1.68	6.16	6.16	0.99307	.	0.142191	0.64402	D	0.000005	D	0.88314	0.6403	M	0.75777	2.31	0.52099	D	0.999941	D;D;D	0.63046	0.992;0.96;0.968	P;P;P	0.60949	0.881;0.695;0.585	D	0.83786	0.0228	10	0.27082	T	0.32	-21.0633	20.8598	0.99761	0.0:1.0:0.0:0.0	.	361;305;361	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	K	361;361;305;305	ENSP00000359621:E361K;ENSP00000342698:E305K	ENSP00000304843:E361K	E	-	1	0	MCOLN3	85264224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.641000	0.67881	2.937000	0.99478	0.650000	0.86243	GAA	MCOLN3	-	NULL	ENSG00000055732		0.294	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	108	0.00	0	C	NM_018298		85491636	85491636	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	missense	47	47.78	43	SNP	1.000	T
MCPH1	79648	genome.wustl.edu	37	8	6302639	6302639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:6302639delA	ENST00000344683.5	+	8	1472	c.1396delA	c.(1396-1398)aaafs	p.K467fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K467fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K419fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	467					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.T468fs*32(2)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTGCGTTGGCAAAAAAACCAG	0.443																																					Colon(95;1448 1467 8277 34473 35819)	dbGAP											2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)											80.0	78.0	79.0					8																	6302639		1856	4107	5963	-	-	-	SO:0001589	frameshift_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1396delA	8.37:g.6302639delA	ENSP00000342924:p.Lys467fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T468fs	ENST00000344683.5	37	c.1396	CCDS43689.1	8																																																																																			MCPH1	-	pfam_Microcephalin	ENSG00000147316		0.443	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	142	0.00	0	A	NM_024596		6302639	6302639	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	frame_shift_del	74	57.51	111	DEL	0.010	-
MDC1	9656	genome.wustl.edu	37	6	30672555	30672555	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30672555G>A	ENST00000376406.3	-	10	5052	c.4405C>T	c.(4405-4407)Cct>Tct	p.P1469S	MDC1_ENST00000376405.2_Missense_Mutation_p.P1205S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1469	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGAGACGTAGGCTCAGGGGTA	0.567								Other conserved DNA damage response genes																														dbGAP											0													109.0	122.0	117.0					6																	30672555		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4405C>T	6.37:g.30672555G>A	ENSP00000365588:p.Pro1469Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.P1469S	ENST00000376406.3	37	c.4405	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499031	0.44455	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.12569	2.67;2.67	4.37	2.45	0.29901	.	.	.	.	.	T	0.14184	0.0343	M	0.61703	1.905	0.09310	N	1	D;P	0.65815	0.995;0.902	D;P	0.68483	0.958;0.782	T	0.08827	-1.0703	9	0.31617	T	0.26	-7.9124	7.1217	0.25448	0.0:0.1907:0.6121:0.1972	.	1205;1469	Q14676-2;Q14676	.;MDC1_HUMAN	S	1469;1205;1182;1035	ENSP00000365588:P1469S;ENSP00000365587:P1205S	ENSP00000365587:P1205S	P	-	1	0	MDC1	30780534	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	0.177000	0.16801	0.514000	0.28300	0.449000	0.29647	CCT	MDC1	-	NULL	ENSG00000137337		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	223	0.00	0	G	NM_014641		30672555	30672555	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	missense	197	14.29	33	SNP	0.001	A
MDC1	9656	genome.wustl.edu	37	6	30673051	30673051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30673051delG	ENST00000376406.3	-	10	4556	c.3909delC	c.(3907-3909)cccfs	p.P1303fs	MDC1_ENST00000376405.2_Frame_Shift_Del_p.P1039fs|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1303	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATGTGGGCTTGGGGGTGACAG	0.567								Other conserved DNA damage response genes																														dbGAP											0													133.0	147.0	142.0					6																	30673051		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3909delC	6.37:g.30673051delG	ENSP00000365588:p.Pro1303fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.K1304fs	ENST00000376406.3	37	c.3909	CCDS34384.1	6																																																																																			MDC1	-	NULL	ENSG00000137337		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	393	0.00	0	G	NM_014641		30673051	30673051	-1	no_errors	ENST00000376406	ensembl	human	known	69_37n	frame_shift_del	312	11.73	44	DEL	0.000	-
MDGA2	161357	genome.wustl.edu	37	14	47530771	47530771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:47530771delT	ENST00000399232.2	-	7	1363	c.999delA	c.(997-999)aaafs	p.K333fs	MDGA2_ENST00000426342.1_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000439988.3_Frame_Shift_Del_p.K402fs	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAAATCGTCCTTTTTTTAATG	0.353																																						dbGAP											0													52.0	49.0	50.0					14																	47530771		1822	4084	5906	-	-	-	SO:0001589	frameshift_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.999delA	14.37:g.47530771delT	ENSP00000382178:p.Lys333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.G403fs	ENST00000399232.2	37	c.1206		14																																																																																			MDGA2	-	NULL	ENSG00000139915		0.353	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	73	0.00	0	T	NM_182830		47530771	47530771	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	frame_shift_del	53	19.70	13	DEL	1.000	-
MDM2	4193	genome.wustl.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-	rs577942747		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:69233090delC	ENST00000350057.5	+	9	862	c.862delC	c.(862-864)cccfs	p.P289fs	MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000462284.1_Frame_Shift_Del_p.P320fs|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|RP11-611O2.5_ENST00000553141.1_RNA			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	314	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"""sarcoma, glioma, colorectal, other"""																																	dbGAP		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	0													114.0	100.0	105.0					12																	69233090		1877	4119	5996	-	-	-	SO:0001589	frameshift_variant	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.862delC	12.37:g.69233090delC	ENSP00000266624:p.Pro289fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Del	DEL	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.L321fs	ENST00000350057.5	37	c.955		12																																																																																			MDM2	-	pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2	ENSG00000135679		0.428	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1	286	0.00	0	C	NM_006880		69233090	69233090	+1	no_errors	ENST00000462284	ensembl	human	known	69_37n	frame_shift_del	267	17.08	55	DEL	1.000	-
MDN1	23195	genome.wustl.edu	37	6	90374212	90374212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:90374212C>A	ENST00000369393.3	-	85	14345	c.14230G>T	c.(14230-14232)Gaa>Taa	p.E4744*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E4744*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4744					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E4744Q(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAACCTTGTTCTTCAAGCTCC	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	152.0	156.0					6																	90374212		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14230G>T	6.37:g.90374212C>A	ENSP00000358400:p.Glu4744*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Nonsense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4744*	ENST00000369393.3	37	c.14230	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	55	24.279171	0.99959	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.12	3.3	0.37823	.	0.129028	0.50627	D	0.000105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	6.5678	0.22521	0.0:0.6299:0.0:0.3701	.	.	.	.	X	4744	.	ENSP00000358400:E4744X	E	-	1	0	MDN1	90430933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.780000	0.38634	1.281000	0.44480	0.655000	0.94253	GAA	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.353	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	189	0.00	0	C			90374212	90374212	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	nonsense	191	17.67	41	SNP	1.000	A
MDN1	23195	genome.wustl.edu	37	6	90432675	90432675	+	Splice_Site	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:90432675delT	ENST00000369393.3	-	40	6081	c.5966delA	c.(5965-5967)aag>ag	p.K1989fs	MDN1_ENST00000428876.1_Splice_Site_p.K1989fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1989					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTCACCTTTTTTTTGTC	0.403																																						dbGAP											0													124.0	137.0	133.0					6																	90432675		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5967+1A>-	6.37:g.90432675delT		Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.K1989fs	ENST00000369393.3	37	c.5966	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.403	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	567	0.87	5	T		Frame_Shift_Del	90432675	90432675	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	frame_shift_del	489	15.29	89	DEL	1.000	-
MECOM	2122	genome.wustl.edu	37	3	168833257	168833257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:168833257delT	ENST00000464456.1	-	7	3039	c.1839delA	c.(1837-1839)aaafs	p.K613fs	MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	22					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G614fs*30(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTTGCTTCCTTTTTTTCCCC	0.498																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											121.0	110.0	114.0					3																	168833257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1839delA	3.37:g.168833257delT	ENSP00000419770:p.Lys613fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13466|Q6FH90	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G802fs	ENST00000464456.1	37	c.2403	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	90	0.00	0	T	NM_005241, NM_004991		168833257	168833257	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	frame_shift_del	97	11.50	13	DEL	1.000	-
MECP2	4204	genome.wustl.edu	37	X	153296881	153296881	+	Missense_Mutation	SNP	C	C	T	rs61748389		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:153296881C>T	ENST00000303391.6	-	4	647	c.398G>A	c.(397-399)cGc>cAc	p.R133H	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.R145H|MECP2_ENST00000407218.1_Missense_Mutation_p.R133H	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	133	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.		R -> C (in RTT; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin; dbSNP:rs28934904). {ECO:0000269|PubMed:10508514, ECO:0000269|PubMed:10577905, ECO:0000269|PubMed:10745042, ECO:0000269|PubMed:10767337, ECO:0000269|PubMed:10991688, ECO:0000269|PubMed:11055898, ECO:0000269|PubMed:11241840, ECO:0000269|PubMed:11269512, ECO:0000269|PubMed:11376998, ECO:0000269|PubMed:11402105, ECO:0000269|PubMed:12567420, ECO:0000269|PubMed:12966523, ECO:0000269|PubMed:15057977}.|R -> H (in RTT). {ECO:0000269|PubMed:11402105, ECO:0000269|PubMed:11706982}.		adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTTAGAGCGAAAGGCTTT	0.507																																						dbGAP											0			GRCh37	CM001224|CM003766|CM014898	MECP2	M	rs61748389						80.0	77.0	78.0					X																	153296881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.398G>A	X.37:g.153296881C>T	ENSP00000301948:p.Arg133His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.R133H	ENST00000303391.6	37	c.398	CCDS14741.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036219	0.75617	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218	D;D;D	0.98249	-4.82;-4.82;-4.82	5.24	5.24	0.73138	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99572	1.0971	10	0.87932	D	0	-19.0306	16.5773	0.84705	0.0:1.0:0.0:0.0	rs61748389	145;133	P51608-2;P51608	.;MECP2_HUMAN	H	133;133;145;133;133	ENSP00000301948:R133H;ENSP00000395535:R145H;ENSP00000384865:R133H	ENSP00000301948:R133H	R	-	2	0	MECP2	152950075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.381000	0.79718	2.172000	0.68678	0.600000	0.82982	CGC	MECP2	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	ENSG00000169057		0.507	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	142	0.00	0	C	NM_004992		153296881	153296881	-1	no_errors	ENST00000303391	ensembl	human	known	69_37n	missense	58	25.64	20	SNP	1.000	T
MED1	5469	genome.wustl.edu	37	17	37566765	37566765	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:37566765delC	ENST00000300651.6	-	17	1932	c.1709delG	c.(1708-1710)ggtfs	p.G570fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTAATGGGACCCCCCGGAAA	0.532										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	dbGAP											0													156.0	146.0	150.0					17																	37566765		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1709delG	17.37:g.37566765delC	ENSP00000300651:p.Gly570fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	pfam_Mediator_Med1_met/fun	p.G570fs	ENST00000300651.6	37	c.1709	CCDS11336.1	17																																																																																			MED1	-	NULL	ENSG00000125686		0.532	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	113	0.00	0	C	NM_004774		37566765	37566765	-1	no_errors	ENST00000300651	ensembl	human	known	69_37n	frame_shift_del	98	20.33	25	DEL	1.000	-
MED12L	116931	genome.wustl.edu	37	3	150877657	150877657	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:150877657T>C	ENST00000474524.1	+	7	914	c.876T>C	c.(874-876)cgT>cgC	p.R292R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Silent_p.R292R|MED12L_ENST00000422248.2_Silent_p.R292R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	292						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R292R(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTGTCTCGTCGTCTTGCCT	0.488																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											184.0	181.0	182.0					3																	150877657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.876T>C	3.37:g.150877657T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.R292	ENST00000474524.1	37	c.876	CCDS33876.1	3																																																																																			MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.488	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	201	0.00	0	T	NM_053002		150877657	150877657	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	silent	182	14.95	32	SNP	0.938	C
MED12L	116931	genome.wustl.edu	37	3	151093884	151093884	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:151093884C>T	ENST00000474524.1	+	26	3868	c.3830C>T	c.(3829-3831)cCt>cTt	p.P1277L	MED12L_ENST00000273432.4_Missense_Mutation_p.P1137L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1277						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATATTGGACCCTGTGCTTTCA	0.383																																						dbGAP											0													85.0	92.0	90.0					3																	151093884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3830C>T	3.37:g.151093884C>T	ENSP00000417235:p.Pro1277Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1277L	ENST00000474524.1	37	c.3830	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.142049	0.94560	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.61158	0.34;0.13	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.962;0.998;0.996	T	0.77070	-0.2724	10	0.87932	D	0	-20.603	19.874	0.96863	0.0:1.0:0.0:0.0	.	1137;1276;1277	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1277;1137	ENSP00000417235:P1277L;ENSP00000273432:P1137L	ENSP00000273432:P1137L	P	+	2	0	MED12L	152576574	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.372000	0.79612	2.788000	0.95919	0.650000	0.86243	CCT	MED12L	-	NULL	ENSG00000144893		0.383	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	88	0.00	0	C	NM_053002		151093884	151093884	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	62	31.11	28	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40571485	40571485	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:40571485C>A	ENST00000324817.1	-	7	960	c.842G>T	c.(841-843)aGg>aTg	p.R281M		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	281	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCAAAGAGCCTAGACTGCAC	0.408																																						dbGAP											0													194.0	163.0	173.0					X																	40571485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.842G>T	X.37:g.40571485C>A	ENSP00000323720:p.Arg281Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.R281M	ENST00000324817.1	37	c.842	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766126	0.90020	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.76838	2.35	0.80722	D	1	P	0.40302	0.712	B	0.42112	0.376	T	0.74256	-0.3724	9	0.62326	D	0.03	.	18.5569	0.91088	0.0:1.0:0.0:0.0	.	281	O60244	MED14_HUMAN	M	281	.	ENSP00000323720:R281M	R	-	2	0	MED14	40456429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.418000	0.80167	2.325000	0.78763	0.600000	0.82982	AGG	MED14	-	NULL	ENSG00000180182		0.408	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	391	0.00	0	C	NM_004229		40571485	40571485	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	199	25.47	68	SNP	1.000	A
MED4	29079	genome.wustl.edu	37	13	48651422	48651422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:48651422C>T	ENST00000258648.2	-	7	691	c.666G>A	c.(664-666)tgG>tgA	p.W222*	MED4_ENST00000378586.1_Nonsense_Mutation_p.W176*|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	222					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CATTTGACTGCCATGGATACT	0.363																																					Pancreas(38;399 1016 9170 13426 20145)	dbGAP											0													77.0	71.0	73.0					13																	48651422		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.666G>A	13.37:g.48651422C>T	ENSP00000258648:p.Trp222*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Nonsense_Mutation	SNP	pfam_Mediator_Med4	p.W222*	ENST00000258648.2	37	c.666	CCDS9408.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.805369	0.96967	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3856	18.8642	0.92285	0.0:1.0:0.0:0.0	.	.	.	.	X	222;200;176;200	.	ENSP00000258648:W222X	W	-	3	0	MED4	47549423	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.390000	0.79816	2.709000	0.92574	0.591000	0.81541	TGG	MED4	-	NULL	ENSG00000136146		0.363	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED4	HGNC	protein_coding	OTTHUMT00000044863.1	124	0.00	0	C	NM_014166		48651422	48651422	-1	no_errors	ENST00000258648	ensembl	human	known	69_37n	nonsense	95	17.39	20	SNP	1.000	T
MEGF10	84466	genome.wustl.edu	37	5	126769093	126769093	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:126769093G>A	ENST00000274473.6	+	15	1999	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	MEGF10_ENST00000503335.2_Missense_Mutation_p.G578S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	578	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGGACGCTGGGGCCCCAACTG	0.582																																						dbGAP											0													115.0	111.0	112.0					5																	126769093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1732G>A	5.37:g.126769093G>A	ENSP00000274473:p.Gly578Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G578S	ENST00000274473.6	37	c.1732	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.951812	0.97139	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.72051	-0.62;-0.62	5.95	5.95	0.96441	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.90625	0.7060	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91119	0.4928	10	0.34782	T	0.22	-25.2335	20.3931	0.98965	0.0:0.0:1.0:0.0	.	578	Q96KG7	MEG10_HUMAN	S	578	ENSP00000423354:G578S;ENSP00000274473:G578S	ENSP00000274473:G578S	G	+	1	0	MEGF10	126796992	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.823000	0.99369	2.824000	0.97209	0.655000	0.94253	GGC	MEGF10	-	smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.582	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	115	0.00	0	G	NM_032446		126769093	126769093	+1	no_errors	ENST00000274473	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	1.000	A
MEMO1	51072	genome.wustl.edu	37	2	32117107	32117107	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:32117107C>T	ENST00000295065.5	-	6	843	c.534G>A	c.(532-534)gcG>gcA	p.A178A	MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Silent_p.A181A|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Silent_p.A155A|MEMO1_ENST00000404530.1_Silent_p.A178A	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	178					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TACTAGGATCCGCTAGATATT	0.368																																						dbGAP											0													108.0	115.0	113.0					2																	32117107		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.534G>A	2.37:g.32117107C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	pfam_UPF0103/Memo-related	p.R60Q	ENST00000295065.5	37	c.179	CCDS1776.1	2																																																																																			MEMO1	-	pfam_UPF0103/Memo-related	ENSG00000162959		0.368	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	271	0.37	1	C	NM_015955		32117107	32117107	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000422936	ensembl	human	known	69_37n	missense	221	35.94	124	SNP	1.000	T
MET	4233	genome.wustl.edu	37	7	116380065	116380065	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:116380065C>T	ENST00000318493.6	+	4	1641	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	MET_ENST00000436117.2_Missense_Mutation_p.P485L|MET_ENST00000397752.3_Missense_Mutation_p.P485L|MET_ENST00000495962.1_3'UTR			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GACTCCCATCCAGTGTCTCCA	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													189.0	170.0	176.0					7																	116380065		1867	4095	5962	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1454C>T	7.37:g.116380065C>T	ENSP00000317272:p.Pro485Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.P485L	ENST00000318493.6	37	c.1454	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535844	0.45176	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.06068	3.35;3.35;3.35	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.094676	0.85682	D	0.000000	T	0.23370	0.0565	L	0.53729	1.69	0.80722	D	1	D;B;B;B;B;B;B;P;B;B	0.52996	0.957;0.062;0.024;0.062;0.062;0.062;0.105;0.951;0.038;0.018	P;B;B;B;B;B;B;D;B;B	0.69654	0.686;0.202;0.056;0.202;0.202;0.202;0.202;0.965;0.059;0.016	T	0.00010	-1.2457	10	0.72032	D	0.01	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	485;485;485;485;485;485;485;485;485;485	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;P08581	.;.;.;.;.;.;.;.;.;MET_HUMAN	L	485	ENSP00000380860:P485L;ENSP00000317272:P485L;ENSP00000410980:P485L	ENSP00000317272:P485L	P	+	2	0	MET	116167301	0.985000	0.35326	1.000000	0.80357	0.348000	0.29142	4.345000	0.59360	2.794000	0.96219	0.655000	0.94253	CCA	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000105976		0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	391	0.25	1	C			116380065	116380065	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	missense	254	36.66	147	SNP	0.996	T
METTL16	79066	genome.wustl.edu	37	17	2341478	2341478	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:2341478C>T	ENST00000263092.6	-	8	940	c.813G>A	c.(811-813)acG>acA	p.T271T	METTL16_ENST00000538844.1_Silent_p.T53T|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	271							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ATTCAGTGTACGTTACTTTGG	0.433																																						dbGAP											0													162.0	149.0	153.0					17																	2341478		2009	4184	6193	-	-	-	SO:0001819	synonymous_variant	0			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.813G>A	17.37:g.2341478C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	p.T271	ENST00000263092.6	37	c.813	CCDS42232.1	17																																																																																			METTL16	-	pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D	ENSG00000127804		0.433	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL16	HGNC	protein_coding	OTTHUMT00000437653.2	155	0.00	0	C	NM_024086		2341478	2341478	-1	no_errors	ENST00000263092	ensembl	human	known	69_37n	silent	110	37.14	65	SNP	1.000	T
MGAT4A	11320	genome.wustl.edu	37	2	99256589	99256590	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:99256589_99256590insT	ENST00000264968.3	-	10	1485_1486	c.1122_1123insA	c.(1120-1125)aaactcfs	p.L375fs	MGAT4A_ENST00000409391.1_Frame_Shift_Ins_p.L375fs|MGAT4A_ENST00000393487.1_Frame_Shift_Ins_p.L375fs|MGAT4A_ENST00000414521.2_Frame_Shift_Ins_p.L247fs			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	375					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CCAACCGTGAGTTTTTGGATTT	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1123dupA	2.37:g.99256594_99256594dupT	ENSP00000264968:p.Leu375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Frame_Shift_Ins	INS	pfam_Glyco_transf_54	p.L374fs	ENST00000264968.3	37	c.1123_1122	CCDS2036.1	2																																																																																			MGAT4A	-	pfam_Glyco_transf_54	ENSG00000071073		0.317	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	113	0.00	0	-	NM_012214		99256589	99256590	-1	no_errors	ENST00000264968	ensembl	human	known	69_37n	frame_shift_ins	113	15.04	20	INS	1.000:1.000	T
MGAT5	4249	genome.wustl.edu	37	2	135011964	135011964	+	5'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:135011964G>A	ENST00000409645.1	+	0	242				MGAT5_ENST00000281923.2_5'UTR|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGGTGAAGTTGCCAGAGAGCA	0.493																																						dbGAP											0													125.0	107.0	113.0					2																	135011964		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.-11G>A	2.37:g.135011964G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP70	RNA	SNP	-	NULL	ENST00000409645.1	37	NULL	CCDS2171.1	2																																																																																			MGAT5	-	-	ENSG00000152127		0.493	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	117	0.00	0	G	NM_002410		135011964	135011964	+1	no_errors	ENST00000488365	ensembl	human	known	69_37n	rna	93	14.68	16	SNP	0.001	A
MIP	4284	genome.wustl.edu	37	12	56848144	56848144	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:56848144C>T	ENST00000257979.4	-	1	282	c.254G>A	c.(253-255)cGt>cAt	p.R85H	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	85					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.R85H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCAGAAGGCACGGAGCAGGGA	0.597																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											46.0	50.0	49.0					12																	56848144		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.254G>A	12.37:g.56848144C>T	ENSP00000257979:p.Arg85His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R41	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin	p.R85H	ENST00000257979.4	37	c.254	CCDS8919.1	12	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044971	0.93685	.	.	ENSG00000135517	ENST00000257979	D	0.88277	-2.36	5.18	5.18	0.71444	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	M	0.81341	2.54	0.80722	D	1	D	0.61080	0.989	P	0.60541	0.876	D	0.94601	0.7796	10	0.87932	D	0	-5.7036	17.8392	0.88710	0.0:1.0:0.0:0.0	.	85	P30301	MIP_HUMAN	H	85	ENSP00000257979:R85H	ENSP00000257979:R85H	R	-	2	0	MIP	55134411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.588000	0.87417	0.561000	0.74099	CGT	MIP	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_Aquaporin	ENSG00000135517		0.597	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIP	HGNC	protein_coding	OTTHUMT00000409620.1	45	0.00	0	C	NM_012064		56848144	56848144	-1	no_errors	ENST00000257979	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	T
MKRN3	7681	genome.wustl.edu	37	15	23812065	23812065	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:23812065A>T	ENST00000314520.3	+	1	1612	c.1136A>T	c.(1135-1137)gAg>gTg	p.E379V	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.E139V|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	379					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCTGGGTGGAGGAGGAGGAA	0.507																																						dbGAP											0													91.0	92.0	91.0					15																	23812065		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1136A>T	15.37:g.23812065A>T	ENSP00000313881:p.Glu379Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.E379V	ENST00000314520.3	37	c.1136	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	A	19.38	3.815882	0.70912	.	.	ENSG00000179455	ENST00000314520	T	0.36340	1.26	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60791	-0.7193	10	0.72032	D	0.01	.	11.5517	0.50725	1.0:0.0:0.0:0.0	.	379	Q13064	MKRN3_HUMAN	V	379	ENSP00000313881:E379V	ENSP00000313881:E379V	E	+	2	0	MKRN3	21363158	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.475000	0.90417	2.049000	0.60858	0.533000	0.62120	GAG	MKRN3	-	NULL	ENSG00000179455		0.507	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	98	0.00	0	A	NM_005664		23812065	23812065	+1	no_errors	ENST00000314520	ensembl	human	known	69_37n	missense	71	16.47	14	SNP	1.000	T
MLH1	4292	genome.wustl.edu	37	3	37067127	37067127	+	Splice_Site	SNP	G	G	C	rs267607819		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:37067127G>C	ENST00000231790.2	+	12	1254		c.e12-1		MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ttttAATACAGACTTTGCTAC	0.348		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	GRCh37	CS971800	MLH1	S							16.0	17.0	17.0					3																	37067127		2190	4298	6488	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1039-1G>C	3.37:g.37067127G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	-	e12-1	ENST00000231790.2	37	c.1039-1	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887928	0.52014	.	.	ENSG00000076242	ENST00000231790;ENST00000537937;ENST00000383761;ENST00000456676;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.947	0.89042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37042131	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.267000	0.78462	2.671000	0.90904	0.557000	0.71058	.	MLH1	-	-	ENSG00000076242		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	68	0	0	G	NM_000249	Intron	37067127	37067127	+1	no_errors	ENST00000231790	ensembl	human	known	69_37n	splice_site	26	44.68	21	SNP	1.000	C
MLH1	4292	genome.wustl.edu	37	3	37067127	37067127	+	Splice_Site	SNP	G	G	C	rs267607819		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:37067127G>C	ENST00000231790.2	+	12	1254		c.e12-1		MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ttttAATACAGACTTTGCTAC	0.348		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	GRCh37	CS971800	MLH1	S							16.0	17.0	17.0					3																	37067127		2190	4298	6488	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1039-1G>C	3.37:g.37067127G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	-	e12-1	ENST00000231790.2	37	c.1039-1	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887928	0.52014	.	.	ENSG00000076242	ENST00000231790;ENST00000537937;ENST00000383761;ENST00000456676;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.947	0.89042	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37042131	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.267000	0.78462	2.671000	0.90904	0.557000	0.71058	.	MLH1	-	-	ENSG00000076242		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	68	0.00	0	G	NM_000249	Intron	37067127	37067127	+1	no_errors	ENST00000231790	ensembl	human	known	69_37n	splice_site	26	44.68	21	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49427950	49427950	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:49427950C>T	ENST00000301067.7	-	38	10639	c.10640G>A	c.(10639-10641)cGc>cAc	p.R3547H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3547	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R3547H(1)|p.R3277H(1)									TTTGGCAGTGCGCTGCTTGGC	0.542																																						dbGAP											2	Substitution - Missense(2)	prostate(2)											83.0	81.0	82.0					12																	49427950		2023	4198	6221	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10640G>A	12.37:g.49427950C>T	ENSP00000301067:p.Arg3547His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R3547H	ENST00000301067.7	37	c.10640	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508596	0.44660	.	.	ENSG00000167548	ENST00000301067	T	0.43688	0.94	5.38	5.38	0.77491	.	0.000000	0.36893	N	0.002344	T	0.62048	0.2396	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3547	O14686	MLL2_HUMAN	H	3547	ENSP00000301067:R3547H	ENSP00000301067:R3547H	R	-	2	0	MLL2	47714217	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	CGC	MLL2	-	NULL	ENSG00000167548		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	102	0.00	0	C			49427950	49427950	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	44	48.24	41	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49445159	49445159	+	Silent	SNP	G	G	A	rs375538882		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:49445159G>A	ENST00000301067.7	-	10	2306	c.2307C>T	c.(2305-2307)caC>caT	p.H769H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	769	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGGGACAGGTGTGGCTCCT	0.697																																						dbGAP											0													18.0	20.0	19.0					12																	49445159		1843	3883	5726	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2307C>T	12.37:g.49445159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H769	ENST00000301067.7	37	c.2307	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.697	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	66	0.00	0	G			49445159	49445159	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.000	A
KMT2D	8085	genome.wustl.edu	37	12	49447773	49447773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:49447773delC	ENST00000301067.7	-	5	660	c.661delG	c.(661-663)gctfs	p.A222fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	222					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGATATGCAGCCCCCTCACTG	0.507																																						dbGAP											0													68.0	67.0	67.0					12																	49447773		1984	4172	6156	-	-	-	SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.661delG	12.37:g.49447773delC	ENSP00000301067:p.Ala222fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A221fs	ENST00000301067.7	37	c.661	CCDS44873.1	12																																																																																			MLL2	-	superfamily_Znf_FYVE_PHD	ENSG00000167548		0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	185	0.00	0	C			49447773	49447773	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	frame_shift_del	99	14.66	17	DEL	1.000	-
KMT2B	9757	genome.wustl.edu	37	19	36224729	36224729	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:36224729G>T	ENST00000222270.7	+	30	7115	c.7115G>T	c.(7114-7116)gGt>gTt	p.G2372V	KMT2B_ENST00000420124.1_Missense_Mutation_p.G2372V|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2372					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTCCCCGATGGTCCCCCAGAC	0.637																																						dbGAP											0													61.0	67.0	65.0					19																	36224729		1975	4148	6123	-	-	-	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7115G>T	19.37:g.36224729G>T	ENSP00000222270:p.Gly2372Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.G2372V	ENST00000222270.7	37	c.7115	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	2.632	-0.286149	0.05605	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83250	-1.7;-1.7	5.61	2.08	0.27032	.	0.156674	0.29884	N	0.010946	T	0.66771	0.2823	N	0.24115	0.695	0.42975	D	0.994441	B	0.29378	0.243	B	0.27380	0.079	T	0.55842	-0.8077	10	0.13470	T	0.59	.	8.6719	0.34156	0.0:0.3164:0.5199:0.1637	.	2372	Q9UMN6	MLL4_HUMAN	V	2372	ENSP00000222270:G2372V;ENSP00000398837:G2372V	ENSP00000222270:G2372V	G	+	2	0	AD000671.1	40916569	0.984000	0.35163	0.971000	0.41717	0.515000	0.34225	2.348000	0.44045	0.723000	0.32274	-0.218000	0.12543	GGT	MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		28	0.00	0	G	NM_014727		36224729	36224729	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	missense	8	60.00	12	SNP	0.976	T
KMT2B	9757	genome.wustl.edu	37	19	36229011	36229011	+	Frame_Shift_Del	DEL	G	G	-	rs376694363	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:36229011delG	ENST00000222270.7	+	36	7791	c.7791delG	c.(7789-7791)gcgfs	p.A2597fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.A2597fs|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2597	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACATCGACGCGGGGGAGATGG	0.592																																						dbGAP											0													81.0	88.0	86.0					19																	36229011		2103	4202	6305	-	-	-	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7791delG	19.37:g.36229011delG	ENSP00000222270:p.Ala2597fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2599fs	ENST00000222270.7	37	c.7791	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000105663		0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		36	0.00	0	G	NM_014727		36229011	36229011	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	frame_shift_del	28	37.50	18	DEL	0.004	-
MMAB	326625	genome.wustl.edu	37	12	109996961	109996961	+	Splice_Site	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:109996961C>T	ENST00000545712.2	-	8	978		c.e8-1		MMAB_ENST00000540016.1_Splice_Site|MMAB_ENST00000266839.5_Splice_Site	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type						cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCACCACACTAGAAAGGGA	0.552																																						dbGAP											0													160.0	114.0	130.0					12																	109996961		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.585-1G>A	12.37:g.109996961C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C5HU05|Q9BSH0	Splice_Site	SNP	-	e8-1	ENST00000545712.2	37	c.585-1	CCDS9131.1	12	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011085	0.35511	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0044	0.86389	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMAB	108481344	1.000000	0.71417	0.718000	0.30602	0.006000	0.05464	6.907000	0.75724	2.684000	0.91462	0.655000	0.94253	.	MMAB	-	-	ENSG00000139428		0.552	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAB	HGNC	protein_coding	OTTHUMT00000403128.2	43	0.00	0	C		Intron	109996961	109996961	-1	no_errors	ENST00000545712	ensembl	human	known	69_37n	splice_site	20	23.08	6	SNP	0.991	T
MORN4	118812	genome.wustl.edu	37	10	99379370	99379371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:99379370_99379371insC	ENST00000307450.6	-	2	203_204	c.40_41insG	c.(40-42)gagfs	p.E14fs	MORN4_ENST00000478953.1_Frame_Shift_Ins_p.E14fs|MORN4_ENST00000335628.3_Intron|MORN4_ENST00000370635.3_Frame_Shift_Ins_p.E14fs|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	14										large_intestine(1)|lung(1)|stomach(2)	4						ACGATATTCCTCCCCACTGGAG	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.41dupG	10.37:g.99379374_99379374dupC	ENSP00000307636:p.Glu14fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Y54	Frame_Shift_Ins	INS	pfam_MORN,smart_MORN	p.E14fs	ENST00000307450.6	37	c.41_40	CCDS7468.1	10																																																																																			MORN4	-	smart_MORN	ENSG00000171160		0.460	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN4	HGNC	protein_coding	OTTHUMT00000049730.1	136	0.00	0	-	NM_178832		99379370	99379371	-1	no_errors	ENST00000307450	ensembl	human	known	69_37n	frame_shift_ins	79	20.20	20	INS	1.000:1.000	C
MORN5	254956	genome.wustl.edu	37	9	124962307	124962307	+	3'UTR	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:124962307C>T	ENST00000373764.3	+	0	645				MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CCCTGGGGGACGGGCTGTAGT	0.532																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.*97C>T	9.37:g.124962307C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7I5|Q6ZQN1	RNA	SNP	-	NULL	ENST00000373764.3	37	NULL	CCDS6836.1	9																																																																																			MORN5	-	-	ENSG00000185681		0.532	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN5	HGNC	protein_coding	OTTHUMT00000053910.2	88	0.00	0	C	NM_198469		124962307	124962307	+1	no_errors	ENST00000486801	ensembl	human	known	69_37n	rna	32	37.25	19	SNP	0.001	T
MOV10	4343	genome.wustl.edu	37	1	113232169	113232169	+	Silent	SNP	C	C	T	rs554802515	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:113232169C>T	ENST00000413052.2	+	4	864	c.474C>T	c.(472-474)ggC>ggT	p.G158G	MOV10_ENST00000357443.2_Silent_p.G158G|MOV10_ENST00000369645.1_Silent_p.G158G|MOV10_ENST00000369644.1_Silent_p.G102G|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	158					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCGGAATGGCGGAACCCAGT	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		15912	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													116.0	126.0	123.0					1																	113232169		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.474C>T	1.37:g.113232169C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	NULL	p.G158	ENST00000413052.2	37	c.474	CCDS853.1	1																																																																																			MOV10	-	NULL	ENSG00000155363		0.582	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	131	0.00	0	C	NM_020963		113232169	113232169	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	silent	32	49.21	31	SNP	0.997	T
MOV10L1	54456	genome.wustl.edu	37	22	50582666	50582666	+	Silent	SNP	C	C	T	rs139092160		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:50582666C>T	ENST00000262794.5	+	18	2582	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	MOV10L1_ENST00000395852.1_5'Flank|MOV10L1_ENST00000545383.1_Silent_p.F833F|MOV10L1_ENST00000540615.1_Silent_p.F813F|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.F833F	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	833					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.F833F(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCTGCAGGTTCGAGGAGGTGA	0.642																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											59.0	53.0	55.0					22																	50582666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2499C>T	22.37:g.50582666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	superfamily_NA-bd_OB-fold-like	p.F833	ENST00000262794.5	37	c.2499	CCDS14084.1	22																																																																																			MOV10L1	-	NULL	ENSG00000073146		0.642	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	49	0.00	0	C	NM_018995		50582666	50582666	+1	no_errors	ENST00000262794	ensembl	human	known	69_37n	silent	34	27.66	13	SNP	0.000	T
MRPL15	29088	genome.wustl.edu	37	8	55049888	55049888	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:55049888T>C	ENST00000260102.4	+	3	398	c.324T>C	c.(322-324)ggT>ggC	p.G108G		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	108					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTGATTTGGGTCGTGTTGATC	0.423																																						dbGAP											0													167.0	152.0	157.0					8																	55049888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.324T>C	8.37:g.55049888T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q54|Q9H0Y1	Silent	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.G108	ENST00000260102.4	37	c.324	CCDS6158.1	8																																																																																			MRPL15	-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	ENSG00000137547		0.423	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1	103	0.00	0	T	NM_014175		55049888	55049888	+1	no_errors	ENST00000260102	ensembl	human	known	69_37n	silent	106	15.87	20	SNP	0.996	C
MRPS11	64963	genome.wustl.edu	37	15	89015951	89015951	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:89015951C>T	ENST00000325844.4	+	3	541	c.276C>T	c.(274-276)caC>caT	p.H92H	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	92					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AAGCATCCCACAACAAGTAAG	0.502																																						dbGAP											0													52.0	50.0	51.0					15																	89015951		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"""Mitochondrial ribosomal proteins / small subunits"""	14050	protein-coding gene	gene with protein product	"""cervical cancer proto-oncogene 2"""	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.276C>T	15.37:g.89015951C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD52|Q969D7|Q96GI3|Q9BYC3	Silent	SNP	pfam_Ribosomal_S11	p.H92	ENST00000325844.4	37	c.276	CCDS10342.1	15																																																																																			MRPS11	-	pfam_Ribosomal_S11	ENSG00000181991		0.502	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS11	HGNC	protein_coding	OTTHUMT00000309067.2	31	0.00	0	C	NM_022839		89015951	89015951	+1	no_errors	ENST00000325844	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	1.000	T
MRPS21	54460	genome.wustl.edu	37	1	150280526	150280526	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:150280526G>A	ENST00000369084.5	+	2	575	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.R43Q	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	43					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCATCGGCGGTATTATGAG	0.463																																						dbGAP											0													52.0	49.0	50.0					1																	150280526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051353	CCDS950.1	1q21	2012-09-13			ENSG00000187145			"""Mitochondrial ribosomal proteins / small subunits"""	14046	protein-coding gene	gene with protein product		611984					Standard	NM_031901		Approved		uc001euk.3	P82921	OTTHUMG00000012544	ENST00000369084.5:c.128G>A	1.37:g.150280526G>A	ENSP00000358080:p.Arg43Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB11|Q9BST6	Missense_Mutation	SNP	pfam_Ribosomal_S21,tigrfam_Ribosomal_S21	p.R43Q	ENST00000369084.5	37	c.128	CCDS950.1	1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489655	0.64074	.	.	ENSG00000187145	ENST00000309092;ENST00000369084	T;T	0.36520	1.25;1.25	4.94	4.94	0.65067	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.58432	D	0.999996	D	0.55385	0.971	B	0.42188	0.379	T	0.03717	-1.1010	8	0.44086	T	0.13	.	17.9518	0.89056	0.0:0.0:1.0:0.0	.	43	P82921	RT21_HUMAN	Q	43	ENSP00000312395:R43Q;ENSP00000358080:R43Q	ENSP00000312395:R43Q	R	+	2	0	MRPS21	148547150	1.000000	0.71417	0.908000	0.35775	0.569000	0.35902	8.376000	0.90138	2.572000	0.86782	0.655000	0.94253	CGG	MRPS21	-	pfam_Ribosomal_S21,tigrfam_Ribosomal_S21	ENSG00000187145		0.463	MRPS21-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS21	HGNC	protein_coding	OTTHUMT00000035813.1	61	0.00	0	G	NM_018997		150280526	150280526	+1	no_errors	ENST00000309092	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	0.998	A
MSANTD3	91283	genome.wustl.edu	37	9	103213186	103213186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:103213186C>T	ENST00000395067.2	+	3	1037	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000489377.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	256										endometrium(2)|lung(2)	4						AAGAAAACTACAAACTTTTAC	0.423																																						dbGAP											0													52.0	53.0	53.0					9																	103213186		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.766C>T	9.37:g.103213186C>T	ENSP00000378506:p.Gln256*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC35|Q5T726|Q5T727|Q5T728	Nonsense_Mutation	SNP	NULL	p.Q256*	ENST00000395067.2	37	c.766	CCDS6749.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.739636	0.96873	.	.	ENSG00000066697	ENST00000395067	.	.	.	6.07	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.7789	16.2964	0.82776	0.0:0.8676:0.1324:0.0	.	.	.	.	X	256	.	ENSP00000378506:Q256X	Q	+	1	0	C9orf30	102253007	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	5.279000	0.65597	1.517000	0.48917	0.655000	0.94253	CAA	MSANTD3	-	NULL	ENSG00000066697		0.423	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD3	HGNC	protein_coding	OTTHUMT00000053410.1	144	0.00	0	C	NM_080655		103213186	103213186	+1	no_errors	ENST00000395067	ensembl	human	known	69_37n	nonsense	118	13.14	18	SNP	1.000	T
MSH5	4439	genome.wustl.edu	37	6	31730261	31730261	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:31730261G>A	ENST00000375755.3	+	25	2744	c.2458G>A	c.(2458-2460)Gtt>Att	p.V820I	SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000534153.4_Missense_Mutation_p.V837I|SAPCD1_ENST00000425424.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000375740.3_Missense_Mutation_p.V808I|MSH5_ENST00000375750.3_Missense_Mutation_p.V820I|MSH5_ENST00000375742.3_Missense_Mutation_p.V837I|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375703.3_Missense_Mutation_p.V821I|MSH5_ENST00000395853.1_Missense_Mutation_p.V494I|MSH5_ENST00000431848.2_Missense_Mutation_p.V519I|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.V837I	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	820					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GGACTTGAACGTTTTCATGAG	0.502								Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP											0													104.0	106.0	105.0					6																	31730261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2458G>A	6.37:g.31730261G>A	ENSP00000364908:p.Val820Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.V837I	ENST00000375755.3	37	c.2509	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825158	0.32237	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000429846;ENST00000491552	D;D;D;D;D;D;D;D;T	0.86366	-1.9;-1.91;-1.9;-1.91;-1.9;-2.11;-1.77;-1.78;0.97	5.81	-5.65	0.02459	.	1.354520	0.04178	N	0.325930	T	0.44117	0.1278	N	0.02539	-0.55	0.19775	N	0.999952	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.001	T	0.43458	-0.9390	9	0.17832	T	0.49	-4.484	9.0223	0.36206	0.4717:0.1064:0.4219:0.0	.	475;808;820;821;837	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	I	820;837;820;837;821;808;519;494;142;176	ENSP00000364908:V820I;ENSP00000364894:V837I;ENSP00000364903:V820I;ENSP00000431693:V837I;ENSP00000364855:V821I;ENSP00000364892:V808I;ENSP00000416784:V519I;ENSP00000379194:V494I;ENSP00000406849:V142I	ENSP00000364855:V821I	V	+	1	0	MSH5;MSH5-C6orf26	31838240	0.000000	0.05858	0.411000	0.26484	0.881000	0.50899	-0.960000	0.03849	-1.088000	0.03077	-1.084000	0.02203	GTT	MSH5	-	NULL	ENSG00000204410		0.502	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	39	0.00	0	G			31730261	31730261	+1	no_errors	ENST00000375742	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.021	A
MTERF2	80298	genome.wustl.edu	37	12	107371422	107371422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:107371422delT	ENST00000552029.1	-	2	3139	c.1071delA	c.(1069-1071)aaafs	p.K357fs	MTERFD3_ENST00000240050.4_Frame_Shift_Del_p.K357fs|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Frame_Shift_Del_p.K357fs			Q49AM1	MTEF2_HUMAN		357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTCAAACTCTTTTTTTGATC	0.353																																						dbGAP											0													168.0	165.0	166.0					12																	107371422		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000552029.1:c.1071delA	12.37:g.107371422delT	ENSP00000447651:p.Lys357fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HM2|Q9H4L6|Q9H7Y9	Frame_Shift_Del	DEL	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.E358fs	ENST00000552029.1	37	c.1071	CCDS9111.1	12																																																																																			MTERFD3	-	NULL	ENSG00000120832		0.353	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MTERFD3	HGNC	protein_coding	OTTHUMT00000406835.1	278	0.00	0	T			107371422	107371422	-1	no_errors	ENST00000240050	ensembl	human	known	69_37n	frame_shift_del	245	21.34	67	DEL	0.999	-
MTOR	2475	genome.wustl.edu	37	1	11204829	11204829	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:11204829G>A	ENST00000361445.4	-	34	4841				MTOR-AS1_ENST00000445982.1_RNA|MTOR_ENST00000495435.1_5'UTR|MTOR-AS1_ENST00000420480.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)						cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GAAGCAAATCGCATTCCAAAC	0.468																																						dbGAP											0													66.0	60.0	62.0					1																	11204829		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4765-17C>T	1.37:g.11204829G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	RNA	SNP	-	NULL	ENST00000361445.4	37	NULL	CCDS127.1	1																																																																																			MTOR-AS1	-	-	ENSG00000225602		0.468	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR-AS1	HGNC	protein_coding	OTTHUMT00000005558.1	106	0.00	0	G	NM_004958		11204829	11204829	+1	no_errors	ENST00000420480	ensembl	human	known	69_37n	rna	68	27.37	26	SNP	0.994	A
MTTP	4547	genome.wustl.edu	37	4	100527949	100527949	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:100527949A>G	ENST00000265517.5	+	11	1592	c.1389A>G	c.(1387-1389)aaA>aaG	p.K463K	MTTP_ENST00000511045.1_Silent_p.K490K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Silent_p.K463K			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	463	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GACTTGAAAAAGCAGAGAAAA	0.433																																						dbGAP											0			GRCh37	CD004310	MTTP	D							85.0	91.0	89.0					4																	100527949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1389A>G	4.37:g.100527949A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.K463	ENST00000265517.5	37	c.1389	CCDS3651.1	4																																																																																			MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.433	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	87	0.00	0	A			100527949	100527949	+1	no_errors	ENST00000265517	ensembl	human	known	69_37n	silent	62	38.00	38	SNP	0.393	G
MUC16	94025	genome.wustl.edu	37	19	9071381	9071381	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:9071381T>C	ENST00000397910.4	-	3	16268	c.16065A>G	c.(16063-16065)ccA>ccG	p.P5355P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5357	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGCTCTGTGGTGATGTGG	0.522																																						dbGAP											0													142.0	142.0	142.0					19																	9071381		2066	4211	6277	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16065A>G	19.37:g.9071381T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P5355	ENST00000397910.4	37	c.16065	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	561	0.18	1	T	NM_024690		9071381	9071381	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	387	21.93	109	SNP	0.000	C
MUC20	200958	genome.wustl.edu	37	3	195452738	195452738	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:195452738A>G	ENST00000447234.2	+	2	1390	c.1264A>G	c.(1264-1266)Att>Gtt	p.I422V	MUC20_ENST00000320736.6_Missense_Mutation_p.I251V|MUC20_ENST00000445522.2_Missense_Mutation_p.I387V|MUC20_ENST00000436408.1_Missense_Mutation_p.I422V	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	422					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CATCGAGGTTATTAATTGCAG	0.562																																						dbGAP											0													16.0	12.0	13.0					3																	195452738		1838	4042	5880	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1264A>G	3.37:g.195452738A>G	ENSP00000414350:p.Ile422Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.I422V	ENST00000447234.2	37	c.1264		3	.	.	.	.	.	.	.	.	.	.	A	3.971	-0.008443	0.07727	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.15256	2.81;2.85;2.97;2.44	3.67	1.28	0.21552	.	0.660821	0.13338	N	0.395391	T	0.10380	0.0254	L	0.29908	0.895	0.09310	N	1	B	0.28801	0.223	B	0.22880	0.042	T	0.24799	-1.0150	10	0.44086	T	0.13	-3.487	5.2532	0.15532	0.7593:0.0:0.2407:0.0	.	251	E9PH32	.	V	422;251;422;387	ENSP00000414350:I422V;ENSP00000325431:I251V;ENSP00000396774:I422V;ENSP00000405629:I387V	ENSP00000325431:I251V	I	+	1	0	MUC20	196938409	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.175000	0.16762	0.278000	0.22164	0.460000	0.39030	ATT	MUC20	-	NULL	ENSG00000176945		0.562	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	51	0.00	0	A	NM_152673		195452738	195452738	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.000	G
MYL12B	103910	genome.wustl.edu	37	18	3273072	3273072	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:3273072C>T	ENST00000581193.1	+	2	559	c.176C>T	c.(175-177)gCt>gTt	p.A59V	MYL12B_ENST00000400175.5_Missense_Mutation_p.A59V|MYL12B_ENST00000584539.1_Missense_Mutation_p.A59V|MYL12B_ENST00000237500.5_Missense_Mutation_p.A59V	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	59	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						GATATGCTTGCTTCTCTAGGT	0.333																																						dbGAP											0													177.0	172.0	174.0					18																	3273072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.176C>T	18.37:g.3273072C>T	ENSP00000463559:p.Ala59Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A59V	ENST00000581193.1	37	c.176	CCDS11831.1	18	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012037	0.93346	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.71341	-0.56;-0.56	5.55	5.55	0.83447	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75481	0.3855	M	0.79693	2.465	0.80722	D	1	B	0.14805	0.011	B	0.18871	0.023	T	0.72721	-0.4208	10	0.59425	D	0.04	.	19.8565	0.96761	0.0:1.0:0.0:0.0	.	59	O14950	ML12B_HUMAN	V	59	ENSP00000237500:A59V;ENSP00000383037:A59V	ENSP00000237500:A59V	A	+	2	0	MYL12B	3263072	1.000000	0.71417	0.678000	0.29963	0.974000	0.67602	7.757000	0.85209	2.752000	0.94435	0.650000	0.86243	GCT	MYL12B	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000118680		0.333	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYL12B	HGNC	protein_coding	OTTHUMT00000258908.1	446	0.00	0	C	NM_033546		3273072	3273072	+1	no_errors	ENST00000237500	ensembl	human	known	69_37n	missense	227	37.70	138	SNP	1.000	T
MYLK	4638	genome.wustl.edu	37	3	123452570	123452570	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:123452570C>T	ENST00000475616.1	-	7	1272	c.1273G>A	c.(1273-1275)Gtc>Atc	p.V425I	MYLK_ENST00000346322.5_Missense_Mutation_p.V425I|MYLK_ENST00000360772.3_Missense_Mutation_p.V425I|MYLK_ENST00000359169.1_Missense_Mutation_p.V425I|MYLK_ENST00000360304.3_Missense_Mutation_p.V425I			Q15746	MYLK_HUMAN	myosin light chain kinase	425	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTTTCCTTGACCTCCTGGCTT	0.507																																						dbGAP											0													174.0	175.0	175.0					3																	123452570		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1273G>A	3.37:g.123452570C>T	ENSP00000418335:p.Val425Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V425I	ENST00000475616.1	37	c.1273	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014171	0.54468	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.18;-0.47	5.43	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65565	0.2703	L	0.55743	1.74	0.80722	D	1	B;B;B;B;B	0.22480	0.056;0.021;0.056;0.008;0.07	B;B;B;B;B	0.28709	0.056;0.013;0.093;0.009;0.093	T	0.61491	-0.7052	9	0.36615	T	0.2	.	10.9157	0.47135	0.0:0.903:0.0:0.097	.	425;425;425;425;425	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	425	ENSP00000354004:V425I;ENSP00000353452:V425I;ENSP00000352088:V425I;ENSP00000320622:V425I;ENSP00000418335:V425I	ENSP00000320622:V425I	V	-	1	0	MYLK	124935260	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.691000	0.47010	2.824000	0.97209	0.655000	0.94253	GTC	MYLK	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000065534		0.507	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	252	0.00	0	C	NM_053025		123452570	123452570	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	188	19.66	46	SNP	1.000	T
MYO18B	84700	genome.wustl.edu	37	22	26194051	26194051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:26194051delG	ENST00000407587.2	+	12	2677	c.2508delG	c.(2506-2508)gcgfs	p.A836fs	MYO18B_ENST00000536101.1_Frame_Shift_Del_p.A836fs|MYO18B_ENST00000335473.7_Frame_Shift_Del_p.A836fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	836	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGGTGCGGCGGGGGCCTGCA	0.662																																						dbGAP											0													21.0	24.0	23.0					22																	26194051		1949	4126	6075	-	-	-	SO:0001589	frameshift_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2508delG	22.37:g.26194051delG	ENSP00000386096:p.Ala836fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A838fs	ENST00000407587.2	37	c.2508		22																																																																																			MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133454		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	54	0.00	0	G	NM_032608		26194051	26194051	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	frame_shift_del	36	23.40	11	DEL	0.455	-
MYO1D	4642	genome.wustl.edu	37	17	31048090	31048090	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:31048090G>A	ENST00000318217.5	-	15	2168	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	MYO1D_ENST00000394649.4_Missense_Mutation_p.R534C|MYO1D_ENST00000579584.1_Missense_Mutation_p.R622C	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	622	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R622C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTGCCCGACGCACTCTCACA	0.468																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											151.0	151.0	151.0					17																	31048090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1864C>T	17.37:g.31048090G>A	ENSP00000324527:p.Arg622Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R622C	ENST00000318217.5	37	c.1864	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.260918	0.95368	.	.	ENSG00000176658	ENST00000318217	T	0.73469	-0.75	5.21	5.21	0.72293	Myosin head, motor domain (2);	0.000000	0.36703	U	0.002460	D	0.85362	0.5679	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86569	0.1846	10	0.87932	D	0	.	16.289	0.82738	0.0:0.0:1.0:0.0	.	533;622	Q7Z3N6;O94832	.;MYO1D_HUMAN	C	622	ENSP00000324527:R622C	ENSP00000324527:R622C	R	-	1	0	MYO1D	28072203	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.331000	0.72929	2.716000	0.92895	0.561000	0.74099	CGT	MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000176658		0.468	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	137	0.00	0	G			31048090	31048090	-1	no_errors	ENST00000318217	ensembl	human	known	69_37n	missense	108	28.00	42	SNP	1.000	A
MYO5A	4644	genome.wustl.edu	37	15	52646161	52646161	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:52646161G>A	ENST00000399231.3	-	26	3717	c.3474C>T	c.(3472-3474)ctC>ctT	p.L1158L	MYO5A_ENST00000358212.6_Silent_p.L1158L|MYO5A_ENST00000356338.6_Silent_p.L1158L|MYO5A_ENST00000399233.2_Silent_p.L1158L|MYO5A_ENST00000553916.1_Silent_p.L1158L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1158					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCCGCTTCTGGAGCTTAAGGA	0.532																																						dbGAP											0													111.0	116.0	114.0					15																	52646161		2024	4188	6212	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3474C>T	15.37:g.52646161G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1158	ENST00000399231.3	37	c.3474	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.532	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	149	0.00	0	G	NM_000259		52646161	52646161	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	68	29.90	29	SNP	0.974	A
MYO1E	4643	genome.wustl.edu	37	15	59445902	59445902	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:59445902G>A	ENST00000288235.4	-	26	3366	c.2967C>T	c.(2965-2967)taC>taT	p.Y989Y	AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	989					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCATGGAGGTGTACAGGCTTT	0.567																																						dbGAP											0													99.0	102.0	101.0					15																	59445902		2191	4291	6482	-	-	-	SO:0001819	synonymous_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2967C>T	15.37:g.59445902G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Y989	ENST00000288235.4	37	c.2967	CCDS32254.1	15																																																																																			MYO1E	-	NULL	ENSG00000157483		0.567	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	58	0.00	0	G	NM_004998		59445902	59445902	-1	no_errors	ENST00000288235	ensembl	human	known	69_37n	silent	44	26.67	16	SNP	0.036	A
MYO9A	4649	genome.wustl.edu	37	15	72190580	72190580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:72190580delA	ENST00000356056.5	-	25	4736	c.4264delT	c.(4264-4266)tatfs	p.Y1422fs	MYO9A_ENST00000424560.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.Y1422fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.Y1042fs|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.Y1403fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1422	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGGGATATAAAAAAAAGTA	0.398																																						dbGAP											0													63.0	64.0	63.0					15																	72190580		2199	4297	6496	-	-	-	SO:0001589	frameshift_variant	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4264delT	15.37:g.72190580delA	ENSP00000348349:p.Tyr1422fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.Y1422fs	ENST00000356056.5	37	c.4264	CCDS10239.1	15																																																																																			MYO9A	-	NULL	ENSG00000066933		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	203	0.49	1	A	NM_006901		72190580	72190580	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	frame_shift_del	103	38.01	65	DEL	1.000	-
MYOCD	93649	genome.wustl.edu	37	17	12656559	12656559	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:12656559C>T	ENST00000343344.4	+	10	1954	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	MYOCD_ENST00000425538.1_Missense_Mutation_p.P652S|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P556S|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	652					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CATCAGTTTGCCCCCATCACC	0.582																																						dbGAP											0													87.0	91.0	90.0					17																	12656559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1954C>T	17.37:g.12656559C>T	ENSP00000341835:p.Pro652Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.P652S	ENST00000343344.4	37	c.1954	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505797	0.64410	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.46063	0.93;0.88	5.42	5.42	0.78866	.	0.049379	0.85682	D	0.000000	T	0.58538	0.2129	M	0.73962	2.25	0.58432	D	0.999994	P;P;P;D	0.59357	0.929;0.893;0.907;0.985	B;P;P;P	0.53912	0.408;0.737;0.491;0.685	T	0.59069	-0.7523	10	0.41790	T	0.15	-31.6519	18.061	0.89377	0.0:1.0:0.0:0.0	.	371;556;652;652	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	S	371;652;652;556;357	ENSP00000341835:P652S;ENSP00000400148:P357S	ENSP00000341835:P652S	P	+	1	0	MYOCD	12597284	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	3.518000	0.53451	2.578000	0.87016	0.644000	0.83932	CCC	MYOCD	-	NULL	ENSG00000141052		0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	118	0.00	0	C	NM_153604		12656559	12656559	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	128	17.95	28	SNP	1.000	T
MYOM3	127294	genome.wustl.edu	37	1	24424424	24424424	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:24424424A>G	ENST00000374434.3	-	7	896	c.734T>C	c.(733-735)gTc>gCc	p.V245A	MYOM3_ENST00000329601.7_Missense_Mutation_p.V245A|MYOM3_ENST00000330966.7_Missense_Mutation_p.V246A|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	245	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCGGACGAGGACTTTGGCGAA	0.587																																						dbGAP											0													190.0	206.0	201.0					1																	24424424		2059	4188	6247	-	-	-	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.734T>C	1.37:g.24424424A>G	ENSP00000363557:p.Val245Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V246A	ENST00000374434.3	37	c.737	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397811	0.83120	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.067368	0.64402	D	0.000012	D	0.89213	0.6651	M	0.90483	3.12	0.36769	D	0.883716	D;D	0.67145	0.991;0.996	D;D	0.69824	0.966;0.919	D	0.93189	0.6581	10	0.87932	D	0	.	12.8769	0.57996	1.0:0.0:0.0:0.0	.	245;245	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	A	245;246;245	ENSP00000363557:V245A;ENSP00000332670:V246A;ENSP00000328415:V245A	ENSP00000328415:V245A	V	-	2	0	MYOM3	24297011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.111000	0.64628	2.036000	0.60181	0.454000	0.30748	GTC	MYOM3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000142661		0.587	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	85	0.00	0	A	NM_152372		24424424	24424424	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	1.000	G
MYOZ1	58529	genome.wustl.edu	37	10	75391841	75391841	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75391841G>A	ENST00000359322.4	-	6	1111	c.747C>T	c.(745-747)ccC>ccT	p.P249P	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CACTCAGCAAGGGCCCCAGGT	0.537																																						dbGAP											0													98.0	94.0	95.0					10																	75391841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.747C>T	10.37:g.75391841G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Calsarcin-bd	p.P249	ENST00000359322.4	37	c.747	CCDS7330.1	10																																																																																			MYOZ1	-	pfam_Calsarcin-bd	ENSG00000177791		0.537	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ1	HGNC	protein_coding	OTTHUMT00000048654.1	123	0.00	0	G			75391841	75391841	-1	no_errors	ENST00000359322	ensembl	human	known	69_37n	silent	78	29.46	33	SNP	0.997	A
MYOZ1	58529	genome.wustl.edu	37	10	75394384	75394385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75394384_75394385insC	ENST00000359322.4	-	4	723_724	c.359_360insG	c.(358-360)ggcfs	p.G120fs		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CAGAGCCACTGCCCCCTGCCTG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.360dupG	10.37:g.75394389_75394389dupC	ENSP00000352272:p.Gly120fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Calsarcin-bd	p.S121fs	ENST00000359322.4	37	c.360_359	CCDS7330.1	10																																																																																			MYOZ1	-	pfam_Calsarcin-bd	ENSG00000177791		0.639	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ1	HGNC	protein_coding	OTTHUMT00000048654.1	105	0.00	0	-			75394384	75394385	-1	no_errors	ENST00000359322	ensembl	human	known	69_37n	frame_shift_ins	71	17.44	15	INS	0.893:0.790	C
MYPN	84665	genome.wustl.edu	37	10	69933947	69933947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:69933947delC	ENST00000358913.5	+	11	2586	c.2098delC	c.(2098-2100)cccfs	p.P701fs	MYPN_ENST00000354393.2_Frame_Shift_Del_p.P426fs|MYPN_ENST00000540630.1_Frame_Shift_Del_p.P701fs	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	701					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTCCAATGCTCCCCCAGCGGT	0.498																																						dbGAP											0													137.0	125.0	129.0					10																	69933947		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2098delC	10.37:g.69933947delC	ENSP00000351790:p.Pro701fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P701fs	ENST00000358913.5	37	c.2098	CCDS7275.1	10																																																																																			MYPN	-	NULL	ENSG00000138347		0.498	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	262	0.00	0	C	NM_032578		69933947	69933947	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	frame_shift_del	154	24.27	50	DEL	0.000	-
NAA25	80018	genome.wustl.edu	37	12	112481586	112481586	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:112481586C>T	ENST00000261745.4	-	18	2341	c.2093G>A	c.(2092-2094)aGt>aAt	p.S698N		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	698						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGGAAGTCCACTTATCAGCCT	0.453																																						dbGAP											0													88.0	89.0	89.0					12																	112481586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2093G>A	12.37:g.112481586C>T	ENSP00000261745:p.Ser698Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.S698N	ENST00000261745.4	37	c.2093	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109420	0.77096	.	.	ENSG00000111300	ENST00000261745	T	0.25749	1.78	5.68	5.68	0.88126	.	0.094642	0.85682	D	0.000000	T	0.22936	0.0554	L	0.29908	0.895	0.49130	D	0.999759	P;P	0.38922	0.651;0.651	B;B	0.38428	0.273;0.273	T	0.01925	-1.1246	10	0.20519	T	0.43	-12.6475	19.7888	0.96450	0.0:1.0:0.0:0.0	.	698;698	A8K8X0;Q14CX7	.;NAA25_HUMAN	N	698	ENSP00000261745:S698N	ENSP00000261745:S698N	S	-	2	0	NAA25	110965969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.280000	0.65603	2.662000	0.90505	0.655000	0.94253	AGT	NAA25	-	NULL	ENSG00000111300		0.453	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	181	0.00	0	C	NM_024953		112481586	112481586	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	missense	137	23.03	41	SNP	1.000	T
NANOS3	342977	genome.wustl.edu	37	19	13988235	13988235	+	Intron	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:13988235C>A	ENST00000397555.2	+	2	126				MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000591727.1_Intron|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Missense_Mutation_p.P58Q	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGCCAGTGCCGGGACCCAAG	0.662																																						dbGAP											0													45.0	56.0	52.0					19																	13988235		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.127-11C>A	19.37:g.13988235C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.P58Q	ENST00000397555.2	37	c.173		19	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524945	0.44969	.	.	ENSG00000187556	ENST00000339133	T	0.44482	0.92	4.14	3.11	0.35812	.	20.385900	0.00496	U	0.000148	T	0.55097	0.1899	.	.	.	0.47276	D	0.99937	D	0.89917	1.0	D	0.75484	0.986	T	0.58211	-0.7676	9	0.11794	T	0.64	-4.7441	7.9244	0.29865	0.0:0.8875:0.0:0.1125	.	58	P60323-2	.	Q	58	ENSP00000341992:P58Q	ENSP00000341992:P58Q	P	+	2	0	NANOS3	13849235	0.055000	0.20627	0.069000	0.20011	0.008000	0.06430	1.804000	0.38873	1.120000	0.41904	-0.136000	0.14681	CCG	NANOS3	-	NULL	ENSG00000187556		0.662	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding		46	0.00	0	C	XM_292819		13988235	13988235	+1	no_errors	ENST00000339133	ensembl	human	known	69_37n	missense	20	35.48	11	SNP	0.362	A
NAPEPLD	222236	genome.wustl.edu	37	7	102760123	102760123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:102760123delA	ENST00000417955.1	-	3	996	c.842delT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.F354fs|NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.F281fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATCTCCTGCGAAAAAAAATCG	0.463																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											83.0	79.0	80.0					7																	102760123		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.842delT	7.37:g.102760123delA	ENSP00000407112:p.Phe281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ87|Q769K1	Frame_Shift_Del	DEL	NULL	p.F354fs	ENST00000417955.1	37	c.1061	CCDS5729.1	7																																																																																			NAPEPLD	-	NULL	ENSG00000161048		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1	194	0.00	0	A	NM_198990		102760123	102760123	-1	no_errors	ENST00000455523	ensembl	human	known	69_37n	frame_shift_del	100	36.65	59	DEL	1.000	-
NAT1	9	genome.wustl.edu	37	8	18079850	18079851	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:18079850_18079851insA	ENST00000517492.1	+	3	932_933	c.294_295insA	c.(295-297)aaafs	p.K99fs	NAT1_ENST00000518029.1_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000539092.1_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.K99fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.K161fs			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GCACTCCAGCCAAAAAATACAG	0.49																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.300dupA	8.37:g.18079856_18079856dupA	ENSP00000429407:p.Lys99fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JWA6|Q86SY5	Frame_Shift_Ins	INS	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.Y162fs	ENST00000517492.1	37	c.480_481	CCDS6007.1	8																																																																																			NAT1	-	pfam_Arylamine_N-AcTrfase	ENSG00000171428		0.490	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	HGNC	protein_coding	OTTHUMT00000374828.1	376	0.00	0	-	NM_000662		18079850	18079851	+1	no_errors	ENST00000545197	ensembl	human	known	69_37n	frame_shift_ins	417	16.77	84	INS	0.000:0.000	A
NBPF14	25832	genome.wustl.edu	37	1	145292913	145292913	+	Intron	SNP	T	T	G	rs3926770		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:145292913T>G	ENST00000468030.1	+	5	970				NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_5'Flank|NBPF10_ENST00000342960.5_5'Flank																							CTTAGATGTATTGGGAAAGAC	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0																														ENST00000468030.1:c.635-201T>G	1.37:g.145292913T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000468030.1	37	NULL		1																																																																																			NBPF10	-	-	ENSG00000163386		0.428	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	NBPF10	HGNC	protein_coding	OTTHUMT00000038553.9	31	0.00	0	T			145292913	145292913	+1	no_errors	ENST00000464433	ensembl	human	known	69_37n	rna	48	14.04	8	SNP	0.002	G
NCAN	1463	genome.wustl.edu	37	19	19335238	19335238	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:19335238delG	ENST00000252575.6	+	5	873	c.774delG	c.(772-774)ctgfs	p.L258fs	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	258					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCCGGGAGCTGGGGGGTAAGT	0.592																																						dbGAP											0													71.0	72.0	72.0					19																	19335238		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.774delG	19.37:g.19335238delG	ENSP00000252575:p.Leu258fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Frame_Shift_Del	DEL	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.G260fs	ENST00000252575.6	37	c.774	CCDS12397.1	19																																																																																			NCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000130287		0.592	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	79	0.00	0	G	NM_004386		19335238	19335238	+1	no_errors	ENST00000252575	ensembl	human	known	69_37n	frame_shift_del	23	17.24	5	DEL	0.993	-
NCEH1	57552	genome.wustl.edu	37	3	172351310	172351310	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:172351310G>A	ENST00000475381.1	-	5	1415	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	NCEH1_ENST00000543711.1_Silent_p.I261I|NCEH1_ENST00000538775.1_Silent_p.I434I|NCEH1_ENST00000273512.3_Silent_p.I426I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	394					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TCCTAGTCCGGATTCCCACTG	0.502																																						dbGAP											0													101.0	99.0	100.0					3																	172351310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.1182C>T	3.37:g.172351310G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.I434	ENST00000475381.1	37	c.1302		3																																																																																			NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.502	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	156	0.00	0	G	NM_020792		172351310	172351310	-1	no_errors	ENST00000538775	ensembl	human	known	69_37n	silent	124	24.85	41	SNP	0.149	A
NCKAP5	344148	genome.wustl.edu	37	2	133540668	133540668	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:133540668C>A	ENST00000409261.1	-	14	4089	c.3716G>T	c.(3715-3717)gGg>gTg	p.G1239V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1239V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1239										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCATCACTCCCAGGGATGCT	0.498																																						dbGAP											0													122.0	118.0	119.0					2																	133540668		1947	4148	6095	-	-	-	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3716G>T	2.37:g.133540668C>A	ENSP00000387128:p.Gly1239Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.G1239V	ENST00000409261.1	37	c.3716	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144897	0.37825	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09163	3.01;3.01	5.5	3.58	0.41010	.	0.663625	0.12279	U	0.483125	T	0.05960	0.0155	N	0.14661	0.345	0.51233	D	0.999911	B	0.31548	0.328	B	0.32465	0.146	T	0.38845	-0.9642	10	0.27785	T	0.31	.	4.1066	0.10040	0.2412:0.5674:0.0:0.1914	.	1239	O14513	NCKP5_HUMAN	V	1239	ENSP00000387128:G1239V;ENSP00000380603:G1239V	ENSP00000380603:G1239V	G	-	2	0	NCKAP5	133257138	0.000000	0.05858	0.216000	0.23742	0.353000	0.29299	0.441000	0.21611	1.556000	0.49512	0.655000	0.94253	GGG	NCKAP5	-	NULL	ENSG00000176771		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	142	0.00	0	C	NM_207481		133540668	133540668	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	missense	93	42.24	68	SNP	0.711	A
NCOR1	9611	genome.wustl.edu	37	17	15964871	15964871	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:15964871G>A	ENST00000268712.3	-	37	5982	c.5725C>T	c.(5725-5727)Cct>Tct	p.P1909S	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.P493S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1909	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTGGAGGAGGCCCTTTATCT	0.463																																						dbGAP											0													169.0	166.0	167.0					17																	15964871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5725C>T	17.37:g.15964871G>A	ENSP00000268712:p.Pro1909Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P1909S	ENST00000268712.3	37	c.5725	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116518	0.56505	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.47177	0.85;0.85	5.87	5.87	0.94306	.	0.094480	0.85682	D	0.000000	T	0.48077	0.1480	L	0.39898	1.24	0.54753	D	0.999983	P;B;P;P	0.48162	0.775;0.329;0.666;0.906	B;B;B;P	0.52909	0.356;0.122;0.162;0.713	T	0.25502	-1.0130	10	0.07325	T	0.83	-8.3059	14.7593	0.69593	0.0:0.144:0.856:0.0	.	719;1813;1909;429	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	S	1909;1813;493	ENSP00000268712:P1909S;ENSP00000379198:P493S	ENSP00000268712:P1909S	P	-	1	0	NCOR1	15905596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.632000	0.67819	2.785000	0.95823	0.650000	0.86243	CCT	NCOR1	-	NULL	ENSG00000141027		0.463	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	372	0.00	0	G	NM_006311		15964871	15964871	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	372	19.22	89	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	15965543	15965543	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:15965543G>A	ENST00000268712.3	-	36	5520	c.5263C>T	c.(5263-5265)Cgc>Tgc	p.R1755C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1771C|NCOR1_ENST00000395857.3_Missense_Mutation_p.R339C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1755	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1755C(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGGGGAGCGAACATATCCA	0.488																																						dbGAP											2	Substitution - Missense(2)	NS(1)|skin(1)											113.0	102.0	106.0					17																	15965543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5263C>T	17.37:g.15965543G>A	ENSP00000268712:p.Arg1755Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1755C	ENST00000268712.3	37	c.5263	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833141	0.91036	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.53423	0.62;0.62;0.62	5.74	5.74	0.90152	.	0.047118	0.85682	D	0.000000	T	0.64951	0.2645	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.983;0.925;0.966;0.976	T	0.65639	-0.6119	10	0.87932	D	0	-6.4393	18.9133	0.92494	0.0:0.0:1.0:0.0	.	565;1659;1755;1771;275	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	C	1755;1771;1659;339	ENSP00000268712:R1755C;ENSP00000379192:R1771C;ENSP00000379198:R339C	ENSP00000268712:R1755C	R	-	1	0	NCOR1	15906268	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.136000	0.94489	2.715000	0.92844	0.650000	0.86243	CGC	NCOR1	-	NULL	ENSG00000141027		0.488	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	173	0.00	0	G	NM_006311		15965543	15965543	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	170	18.96	40	SNP	1.000	A
MYH11	4629	genome.wustl.edu	37	16	15817980	15817980	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:15817980G>A	ENST00000300036.5	-	31	4475				MYH11_ENST00000576790.2_Intron|MYH11_ENST00000396324.3_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Intron|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAACCCAGCGTCCATGGCCA	0.582			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													65.0	66.0	66.0					16																	15817980		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4365+37C>T	16.37:g.15817980G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	RNA	SNP	-	NULL	ENST00000300036.5	37	NULL	CCDS10565.1	16																																																																																			NDE1	-	-	ENSG00000072864		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDE1	HGNC	protein_coding	OTTHUMT00000252192.2	77	0.00	0	G	NM_001040113		15817980	15817980	+1	no_errors	ENST00000571896	ensembl	human	known	69_37n	rna	36	32.08	17	SNP	0.000	A
NDST2	8509	genome.wustl.edu	37	10	75563023	75563024	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75563023_75563024insT	ENST00000309979.6	-	12	2792_2793	c.2236_2237insA	c.(2236-2238)ctgfs	p.L746fs	NDST2_ENST00000299641.4_Frame_Shift_Ins_p.L623fs|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Frame_Shift_Ins_p.L746fs			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	746	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCGGTTCTGCAGGGAGCGTAGT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2236_2237insA	10.37:g.75563023_75563024insT	ENSP00000310657:p.Leu746fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB32|Q59H89	Frame_Shift_Ins	INS	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.L746fs	ENST00000309979.6	37	c.2237_2236	CCDS7335.1	10																																																																																			NDST2	-	pfam_Sulfotransferase_dom	ENSG00000166507		0.545	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	75	0.00	0	-	NM_003635		75563023	75563024	-1	no_errors	ENST00000309979	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	1.000:1.000	T
NECAP2	55707	genome.wustl.edu	37	1	16774558	16774558	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:16774558G>A	ENST00000337132.5	+	4	392	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000443980.2_Missense_Mutation_p.R101Q|NECAP2_ENST00000406746.1_Missense_Mutation_p.R101Q|NECAP2_ENST00000457722.2_Missense_Mutation_p.R75Q	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	101					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGGGCGACGGGCGTTT	0.517																																						dbGAP											0													309.0	271.0	284.0					1																	16774558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.302G>A	1.37:g.16774558G>A	ENSP00000338746:p.Arg101Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	pfam_NECAP-1	p.R101Q	ENST00000337132.5	37	c.302	CCDS173.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987341	0.74589	.	.	ENSG00000157191	ENST00000337132;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.54908	1.71	0.80722	D	1	P;P;P	0.43662	0.485;0.814;0.54	B;B;B	0.35607	0.153;0.206;0.174	T	0.40997	-0.9533	10	0.46703	T	0.11	-11.8999	13.477	0.61314	0.075:0.0:0.925:0.0	.	75;101;101	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	Q	101;75;101;101;101;101	ENSP00000338746:R101Q;ENSP00000407091:R75Q;ENSP00000383925:R101Q;ENSP00000391942:R101Q;ENSP00000427620:R101Q	ENSP00000263498:R101Q	R	+	2	0	NECAP2	16647145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.924000	0.92827	1.630000	0.50440	0.655000	0.94253	CGA	NECAP2	-	pfam_NECAP-1	ENSG00000157191		0.517	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP2	HGNC	protein_coding	OTTHUMT00000006680.2	117	0.00	0	G	NM_018090		16774558	16774558	+1	no_errors	ENST00000443980	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	A
NEXN	91624	genome.wustl.edu	37	1	78398877	78398877	+	3'UTR	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:78398877delA	ENST00000480732.2	+	0	538				NEXN_ENST00000457030.1_Intron|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000334785.7_Intron					nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		aaaaacaaaCAAAAAAAAGAA	0.333																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000480732.2:c.*535A>-	1.37:g.78398877delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000480732.2	37	NULL		1																																																																																			NEXN	-	-	ENSG00000162614		0.333	NEXN-004	KNOWN	basic	processed_transcript	NEXN	HGNC	protein_coding	OTTHUMT00000097552.2	21	0.00	0	A	NM_144573		78398877	78398877	+1	no_errors	ENST00000480732	ensembl	human	known	69_37n	rna	13	40.00	10	DEL	0.016	-
NFE2	4778	genome.wustl.edu	37	12	54686949	54686949	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:54686949T>C	ENST00000540264.2	-	2	840	c.331A>G	c.(331-333)Agc>Ggc	p.S111G	NFE2_ENST00000553070.1_Missense_Mutation_p.S111G|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.S111G|NFE2_ENST00000312156.4_Missense_Mutation_p.S111G			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	111	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CCTGAGAGGCTCAGTGGCTTG	0.587																																						dbGAP											0													111.0	117.0	115.0					12																	54686949		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.331A>G	12.37:g.54686949T>C	ENSP00000439120:p.Ser111Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07720|Q6ICV9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.S111G	ENST00000540264.2	37	c.331	CCDS8876.1	12	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428353	0.43122	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070;ENST00000553198	.	.	.	5.1	3.96	0.45880	.	0.316889	0.32287	N	0.006304	T	0.16385	0.0394	N	0.08118	0	0.22489	N	0.999055	B	0.13145	0.007	B	0.09377	0.004	T	0.11792	-1.0573	9	0.33141	T	0.24	-20.3084	5.4845	0.16741	0.0:0.0884:0.1745:0.7371	.	111	Q16621	NFE2_HUMAN	G	111	.	ENSP00000312436:S111G	S	-	1	0	NFE2	52973216	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.530000	0.36007	1.083000	0.41159	0.533000	0.62120	AGC	NFE2	-	NULL	ENSG00000123405		0.587	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	175	0.00	0	T	NM_006163		54686949	54686949	-1	no_errors	ENST00000312156	ensembl	human	known	69_37n	missense	113	32.74	55	SNP	1.000	C
NFE2L1	4779	genome.wustl.edu	37	17	46136805	46136805	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:46136805G>A	ENST00000362042.3	+	6	2737	c.2121G>A	c.(2119-2121)ctG>ctA	p.L707L	NFE2L1_ENST00000536222.1_Silent_p.L551L|NFE2L1_ENST00000357480.5_Silent_p.L677L|NFE2L1_ENST00000585291.1_Silent_p.L677L|NFE2L1_ENST00000582155.1_Silent_p.L519L|NFE2L1_ENST00000361665.3_Silent_p.L696L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Silent_p.L508L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	707	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCGCTCCCTGCGACAGATGA	0.607																																						dbGAP											0													80.0	83.0	82.0					17																	46136805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2121G>A	17.37:g.46136805G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L707	ENST00000362042.3	37	c.2121	CCDS11524.1	17																																																																																			NFE2L1	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP	ENSG00000082641		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	89	0.00	0	G	NM_003204		46136805	46136805	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	silent	40	38.46	25	SNP	1.000	A
NFE2L2	4780	genome.wustl.edu	37	2	178095531	178095531	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:178095531T>C	ENST00000397062.3	-	5	2354	c.1800A>G	c.(1798-1800)ccA>ccG	p.P600P	NFE2L2_ENST00000464747.1_Silent_p.P584P|NFE2L2_ENST00000397063.4_Silent_p.P584P|NFE2L2_ENST00000446151.2_Silent_p.P577P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	600					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTAACATCTGGCTTCTTAC	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												dbGAP		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													88.0	82.0	84.0					2																	178095531		1826	4087	5913	-	-	-	SO:0001819	synonymous_variant	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1800A>G	2.37:g.178095531T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,superfamily_Sepin_dom,smart_bZIP,pfscan_bZIP	p.P600	ENST00000397062.3	37	c.1800	CCDS42782.1	2																																																																																			NFE2L2	-	NULL	ENSG00000116044		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	211	0.47	1	T	NM_006164		178095531	178095531	-1	no_errors	ENST00000397062	ensembl	human	known	69_37n	silent	161	21.46	44	SNP	0.999	C
NGF	4803	genome.wustl.edu	37	1	115829303	115829303	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:115829303A>G	ENST00000369512.2	-	3	282	c.114T>C	c.(112-114)acT>acC	p.T38T	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	38					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GCTGAAGTTTAGTCCAGTGGG	0.597																																						dbGAP											0													113.0	89.0	97.0					1																	115829303		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.114T>C	1.37:g.115829303A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.T38	ENST00000369512.2	37	c.114	CCDS882.1	1																																																																																			NGF	-	pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml	ENSG00000134259		0.597	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	68	0.00	0	A	NM_002506		115829303	115829303	-1	no_errors	ENST00000369512	ensembl	human	known	69_37n	silent	51	27.14	19	SNP	0.951	G
NHS	4810	genome.wustl.edu	37	X	17746842	17746842	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:17746842C>T	ENST00000380060.3	+	7	4571	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F	NHS_ENST00000398097.3_Silent_p.F1255F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1432					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.F1411F(2)|p.F1255F(2)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGGGTGTGTTCGTGTCTCCAA	0.418													C|||	1	0.000264901	0.0	0.0	3775	,	,		13319	0.0		0.0	False		,,,				2504	0.001					dbGAP											4	Substitution - coding silent(4)	kidney(4)											96.0	86.0	89.0					X																	17746842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4233C>T	X.37:g.17746842C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.F1411	ENST00000380060.3	37	c.4233	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.418	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	234	0.43	1	C	NM_198270		17746842	17746842	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	154	21.03	41	SNP	0.033	T
NIN	51199	genome.wustl.edu	37	14	51224180	51224180	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:51224180T>C	ENST00000382041.3	-	18	3758	c.3568A>G	c.(3568-3570)Agg>Ggg	p.R1190G	NIN_ENST00000245441.5_Missense_Mutation_p.R1190G|NIN_ENST00000324330.9_Missense_Mutation_p.R1190G|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.R1190G|NIN_ENST00000382043.4_Intron|NIN_ENST00000530997.2_Missense_Mutation_p.R1190G	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1190					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GATTCAGTCCTGGTCTCTTCA	0.448			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													104.0	107.0	106.0					14																	51224180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3568A>G	14.37:g.51224180T>C	ENSP00000371472:p.Arg1190Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.R1190G	ENST00000382041.3	37	c.3568	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.77|11.77	1.736947|1.736947	0.30774|0.30774	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T|T;T;T;T	0.07114|0.07908	3.22|3.42;3.15;3.15;3.15	5.93|5.93	3.57|3.57	0.40892|0.40892	.|.	.|0.473526	.|0.24249	.|N	.|0.040196	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.53249|0.53249	1.67|1.67	0.24096|0.24096	N|N	0.995891|0.995891	.|B;B;D;D	.|0.67145	.|0.002;0.002;0.975;0.996	.|B;B;P;D	.|0.77557	.|0.004;0.004;0.573;0.99	T|T	0.03473|0.03473	-1.1033|-1.1033	6|10	.|0.38643	.|T	.|0.18	-15.6475|-15.6475	6.8184|6.8184	0.23843|0.23843	0.0:0.079:0.1543:0.7667|0.0:0.079:0.1543:0.7667	.|.	.|1196;1190;1190;1190	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	R|G	680|1190;1173;1196;1190;1190;1190	ENSP00000436092:Q680R|ENSP00000245441:R1190G;ENSP00000371472:R1190G;ENSP00000324210:R1190G;ENSP00000412391:R1190G	.|ENSP00000245441:R1190G	Q|R	-|-	2|1	0|2	NIN|NIN	50293930|50293930	0.958000|0.958000	0.32768|0.32768	1.000000|1.000000	0.80357|0.80357	0.520000|0.520000	0.34377|0.34377	1.922000|1.922000	0.40045|0.40045	1.046000|1.046000	0.40249|0.40249	0.460000|0.460000	0.39030|0.39030	CAG|AGG	NIN	-	NULL	ENSG00000100503		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	275	0.00	0	T	NM_182946		51224180	51224180	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	missense	218	20.44	56	SNP	0.689	C
NID2	22795	genome.wustl.edu	37	14	52481992	52481992	+	Splice_Site	SNP	C	C	T	rs544863138		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:52481992C>T	ENST00000216286.5	-	15	3029	c.3030G>A	c.(3028-3030)gaG>gaA	p.E1010E	NID2_ENST00000541773.1_Splice_Site_p.E909E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1010					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGGTGGGCTCTGAGCAGA	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		18542	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													25.0	27.0	26.0					14																	52481992		2190	4288	6478	-	-	-	SO:0001630	splice_region_variant	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3029-1G>A	14.37:g.52481992C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Thyroglobulin_1,superfamily_Green_fluorescent_prot-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A279T	ENST00000216286.5	37	c.835	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325277	0.41197	.	.	ENSG00000087303	ENST00000556572	.	.	.	6.03	4.19	0.49359	.	.	.	.	.	T	0.63920	0.2552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63278	-0.6673	4	.	.	.	.	12.8877	0.58053	0.0:0.8651:0.0:0.1349	.	.	.	.	T	279	.	.	A	-	1	0	NID2	51551742	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.273000	0.33121	1.552000	0.49463	0.655000	0.94253	GCC	NID2	-	superfamily_Thyroglobulin_1	ENSG00000087303		0.592	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	61	0.00	0	C		Silent	52481992	52481992	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000556572	ensembl	human	novel	69_37n	missense	25	39.02	16	SNP	1.000	T
NIPAL1	152519	genome.wustl.edu	37	4	48035028	48035028	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:48035028C>T	ENST00000295461.5	+	4	455	c.389C>T	c.(388-390)gCa>gTa	p.A130V	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	130						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GGAGAGGCTGCAAATTTTGCT	0.448																																						dbGAP											0													84.0	73.0	76.0					4																	48035028		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.389C>T	4.37:g.48035028C>T	ENSP00000295461:p.Ala130Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.A130V	ENST00000295461.5	37	c.389	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941037	0.53079	.	.	ENSG00000163293	ENST00000295461	D	0.93247	-3.19	5.49	-0.529	0.11901	.	0.393027	0.26251	N	0.025443	D	0.94974	0.8374	H	0.96048	3.76	0.48040	D	0.999573	B	0.25563	0.129	B	0.33620	0.167	D	0.90743	0.4651	10	0.59425	D	0.04	.	11.2114	0.48802	0.0:0.6634:0.0:0.3366	.	130	Q6NVV3	NIPA3_HUMAN	V	130	ENSP00000295461:A130V	ENSP00000295461:A130V	A	+	2	0	NIPAL1	47729785	0.884000	0.30299	0.125000	0.21846	0.898000	0.52572	1.801000	0.38843	-0.233000	0.09797	-0.157000	0.13467	GCA	NIPAL1	-	pfam_Mg_trans_NIPA,pfam_DMT	ENSG00000163293		0.448	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	44	0.00	0	C	NM_207330		48035028	48035028	+1	no_errors	ENST00000295461	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.829	T
NIPBL	25836	genome.wustl.edu	37	5	36971044	36971044	+	Missense_Mutation	SNP	C	C	T	rs562557528	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:36971044C>T	ENST00000282516.8	+	7	1176	c.677C>T	c.(676-678)cCg>cTg	p.P226L	NIPBL_ENST00000448238.2_Missense_Mutation_p.P226L|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	226					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTTCTGGTCCGTTGTCTGGC	0.378													C|||	3	0.000599042	0.0	0.0	5008	,	,		17144	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													111.0	100.0	104.0					5																	36971044		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.677C>T	5.37:g.36971044C>T	ENSP00000282516:p.Pro226Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P226L	ENST00000282516.8	37	c.677	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278854	0.59758	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92752	-3.1;-3.1	5.58	4.59	0.56863	.	0.126902	0.53938	D	0.000044	D	0.82609	0.5074	N	0.08118	0	0.50813	D	0.99989	B;B	0.20052	0.024;0.041	B;B	0.16722	0.007;0.016	T	0.79284	-0.1867	10	0.59425	D	0.04	.	11.332	0.49482	0.3655:0.6345:0.0:0.0	.	226;226	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	L	226	ENSP00000282516:P226L;ENSP00000406266:P226L	ENSP00000282516:P226L	P	+	2	0	NIPBL	37006801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.467000	0.73547	2.780000	0.95670	0.655000	0.94253	CCG	NIPBL	-	NULL	ENSG00000164190		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	129	0.00	0	C	NM_015384		36971044	36971044	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	165	14.95	29	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70389735	70389735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:70389735delC	ENST00000358741.3	+	8	2638	c.2335delC	c.(2335-2337)cccfs	p.P780fs	NLGN3_ENST00000536169.1_Frame_Shift_Del_p.P740fs|NLGN3_ENST00000374051.3_Frame_Shift_Del_p.P760fs|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	780					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGAGGCCGGTCCCCCCCATGA	0.677																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													72.0	52.0	59.0					X																	70389735		2199	4292	6491	-	-	-	SO:0001589	frameshift_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2335delC	X.37:g.70389735delC	ENSP00000351591:p.Pro780fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Frame_Shift_Del	DEL	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.H781fs	ENST00000358741.3	37	c.2335	CCDS55441.1	X																																																																																			NLGN3	-	NULL	ENSG00000196338		0.677	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	34	0.00	0	C	NM_018977		70389735	70389735	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	frame_shift_del	13	23.53	4	DEL	0.347	-
NLGN4X	57502	genome.wustl.edu	37	X	5821584	5821584	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:5821584A>G	ENST00000381095.3	-	5	1762	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L	NLGN4X_ENST00000381093.2_Missense_Mutation_p.F399L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.F379L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.F379L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.F379L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	379					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCGTCCACGAACTTCAGGCCT	0.577																																						dbGAP											0													18.0	17.0	17.0					X																	5821584		2200	4270	6470	-	-	-	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1135T>C	X.37:g.5821584A>G	ENSP00000370485:p.Phe379Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.F399L	ENST00000381095.3	37	c.1195	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253246	0.59212	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.49304	0.1549	L	0.45285	1.41	0.58432	D	0.999997	B;P;B	0.52316	0.197;0.952;0.435	B;B;B	0.43194	0.122;0.411;0.053	T	0.46400	-0.9194	8	.	.	.	.	11.4714	0.50270	1.0:0.0:0.0:0.0	.	436;379;399	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	L	379;399;379;379;379	ENSP00000370485:F379L;ENSP00000370483:F399L;ENSP00000275857:F379L;ENSP00000370482:F379L;ENSP00000439203:F379L	.	F	-	1	0	NLGN4X	5831584	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	7.998000	0.88491	1.278000	0.44430	0.486000	0.48141	TTC	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	65	0.00	0	A	NM_020742		5821584	5821584	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	1.000	G
NLRP11	204801	genome.wustl.edu	37	19	56307593	56307593	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:56307593G>A	ENST00000589093.1	-	6	2288	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	NLRP11_ENST00000592953.1_Missense_Mutation_p.A633V|NLRP11_ENST00000443188.1_Missense_Mutation_p.A732V|NLRP11_ENST00000360133.3_Missense_Mutation_p.A678V|NLRP11_ENST00000589824.2_Missense_Mutation_p.A678V			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	732							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACATTCGCTGGCTCGCAAATC	0.433																																						dbGAP											0													95.0	89.0	91.0					19																	56307593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2195C>T	19.37:g.56307593G>A	ENSP00000466285:p.Ala732Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A732V	ENST00000589093.1	37	c.2195	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182191	0.38511	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.13901	2.55;2.55	2.38	-1.34	0.09143	.	.	.	.	.	T	0.12902	0.0313	L	0.31578	0.945	0.09310	N	1	P;P	0.49961	0.793;0.93	B;P	0.52909	0.36;0.713	T	0.17167	-1.0378	9	0.40728	T	0.16	.	3.0305	0.06105	0.3033:0.2347:0.462:0.0	.	732;678	P59045;P59045-2	NAL11_HUMAN;.	V	732;678	ENSP00000409898:A732V;ENSP00000353251:A678V	ENSP00000353251:A678V	A	-	2	0	NLRP11	60999405	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.113000	0.10774	-0.198000	0.10333	0.655000	0.94253	GCC	NLRP11	-	NULL	ENSG00000179873		0.433	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	203	0.00	0	G	NM_145007		56307593	56307593	-1	no_errors	ENST00000443188	ensembl	human	known	69_37n	missense	209	27.18	78	SNP	0.000	A
NOC3L	64318	genome.wustl.edu	37	10	96117921	96117921	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:96117921T>A	ENST00000371361.3	-	3	369	c.269A>T	c.(268-270)gAt>gTt	p.D90V	NOC3L_ENST00000371350.1_Missense_Mutation_p.D90V|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	90					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATCCATCATATCTAAAGGAAG	0.358																																						dbGAP											0													138.0	136.0	137.0					10																	96117921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.269A>T	10.37:g.96117921T>A	ENSP00000360412:p.Asp90Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.D90V	ENST00000371361.3	37	c.269	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623165	0.87460	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.20200	2.09;2.09	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.32530	0.975	0.80722	D	1	P	0.47191	0.891	P	0.49637	0.617	T	0.01600	-1.1315	10	0.87932	D	0	-3.1	15.9619	0.79936	0.0:0.0:0.0:1.0	.	90	Q8WTT2	NOC3L_HUMAN	V	90	ENSP00000360412:D90V;ENSP00000360401:D90V	ENSP00000360401:D90V	D	-	2	0	NOC3L	96107911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.077000	0.76814	2.167000	0.68274	0.528000	0.53228	GAT	NOC3L	-	pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.358	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	339	0.00	0	T	NM_022451		96117921	96117921	-1	no_errors	ENST00000371350	ensembl	human	known	69_37n	missense	246	13.38	38	SNP	1.000	A
NOL6	65083	genome.wustl.edu	37	9	33469229	33469229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:33469229G>A	ENST00000379471.2	-	6	925	c.838C>T	c.(838-840)Cga>Tga	p.R280*	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Nonsense_Mutation_p.R220*			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	280					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTCTGCCCTCGGTACCAGGCA	0.612																																						dbGAP											0													111.0	106.0	108.0					9																	33469229		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.838C>T	9.37:g.33469229G>A	ENSP00000368784:p.Arg280*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Nonsense_Mutation	SNP	pfam_Nrap	p.R280*	ENST00000379471.2	37	c.838		9	.	.	.	.	.	.	.	.	.	.	G	36	5.864663	0.97043	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	.	.	.	5.31	4.21	0.49690	.	0.667263	0.14672	N	0.305293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.7107	0.34382	0.0922:0.0:0.7534:0.1544	.	.	.	.	X	280;280;280;280;220	.	ENSP00000297990:R280X	R	-	1	2	NOL6	33459229	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.357000	0.34090	2.507000	0.84556	0.462000	0.41574	CGA	NOL6	-	pfam_Nrap	ENSG00000165271		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	107	0.00	0	G	NM_022917		33469229	33469229	-1	no_errors	ENST00000297990	ensembl	human	known	69_37n	nonsense	51	22.73	15	SNP	0.887	A
NOTCH2	4853	genome.wustl.edu	37	1	120483317	120483317	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:120483317A>G	ENST00000256646.2	-	19	3263	c.3044T>C	c.(3043-3045)gTg>gCg	p.V1015A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1015	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGAAACCCACAGGGCACAA	0.493			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													159.0	129.0	139.0					1																	120483317		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3044T>C	1.37:g.120483317A>G	ENSP00000256646:p.Val1015Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V1015A	ENST00000256646.2	37	c.3044	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	A	10.41	1.343130	0.24339	.	.	ENSG00000134250	ENST00000256646	D	0.91351	-2.83	5.6	4.47	0.54385	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.029580	0.07807	U	0.957403	T	0.70552	0.3237	N	0.17922	0.545	0.26946	N	0.966136	B;B	0.13594	0.008;0.005	B;B	0.20955	0.032;0.016	T	0.61855	-0.6977	10	0.34782	T	0.22	.	5.9171	0.19061	0.7762:0.0:0.0775:0.1463	.	1015;1015	Q6IQ50;Q04721	.;NOTC2_HUMAN	A	1015	ENSP00000256646:V1015A	ENSP00000256646:V1015A	V	-	2	0	NOTCH2	120284840	0.783000	0.28701	0.985000	0.45067	0.973000	0.67179	1.604000	0.36804	0.964000	0.38108	0.460000	0.39030	GTG	NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.493	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	114	0.00	0	A	NM_024408		120483317	120483317	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	0.649	G
NOTCH4	4855	genome.wustl.edu	37	6	32166263	32166263	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:32166263G>A	ENST00000375023.3	-	26	4829	c.4691C>T	c.(4690-4692)gCa>gTa	p.A1564V	NOTCH4_ENST00000443903.2_5'Flank|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1564					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAGCATGGCTGCCTGAGGGAG	0.557																																						dbGAP											0													60.0	55.0	57.0					6																	32166263		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4691C>T	6.37:g.32166263G>A	ENSP00000364163:p.Ala1564Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.A1564V	ENST00000375023.3	37	c.4691	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068288	0.20067	.	.	ENSG00000204301	ENST00000375023	D	0.81579	-1.51	5.16	0.238	0.15480	.	0.922493	0.09018	N	0.860586	T	0.54240	0.1846	M	0.64404	1.975	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35674	-0.9779	10	0.26408	T	0.33	.	3.5626	0.07888	0.3134:0.0:0.5065:0.18	.	1564;1563	Q99466;B0S882	NOTC4_HUMAN;.	V	1564	ENSP00000364163:A1564V	ENSP00000364163:A1564V	A	-	2	0	NOTCH4	32274241	0.178000	0.23122	0.814000	0.32528	0.886000	0.51366	0.123000	0.15708	0.140000	0.18849	0.561000	0.74099	GCA	NOTCH4	-	pirsf_Notch	ENSG00000204301		0.557	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	68	0.00	0	G			32166263	32166263	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.312	A
NOTCH4	4855	genome.wustl.edu	37	6	32189025	32189025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:32189025delG	ENST00000375023.3	-	4	667	c.529delC	c.(529-531)cagfs	p.Q177fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	177	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACTGGATCTGGGGGTATGTG	0.612																																						dbGAP											0													75.0	69.0	71.0					6																	32189025		1511	2708	4219	-	-	-	SO:0001589	frameshift_variant	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.529delC	6.37:g.32189025delG	ENSP00000364163:p.Gln177fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Frame_Shift_Del	DEL	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.Q177fs	ENST00000375023.3	37	c.529	CCDS34420.1	6																																																																																			NOTCH4	-	smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000204301		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	162	0.00	0	G			32189025	32189025	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	frame_shift_del	125	14.19	21	DEL	1.000	-
NOV	4856	genome.wustl.edu	37	8	120430411	120430411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:120430411delC	ENST00000259526.3	+	3	651	c.424delC	c.(424-426)cccfs	p.P142fs	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TGGCTGTGTGCCCCGCTGTCA	0.542																																						dbGAP											0													106.0	102.0	103.0					8																	120430411		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.424delC	8.37:g.120430411delC	ENSP00000259526:p.Pro142fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R143fs	ENST00000259526.3	37	c.424	CCDS6328.1	8																																																																																			NOV	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000136999		0.542	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOV	HGNC	protein_coding	OTTHUMT00000381301.1	79	0.00	0	C	NM_002514		120430411	120430411	+1	no_errors	ENST00000259526	ensembl	human	known	69_37n	frame_shift_del	25	63.01	46	DEL	1.000	-
NOX3	50508	genome.wustl.edu	37	6	155764536	155764536	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:155764536C>T	ENST00000159060.2	-	5	459	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	119	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGAAATGCGCCACGATGT	0.537																																						dbGAP											0													87.0	77.0	80.0					6																	155764536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.357G>A	6.37:g.155764536C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.A119	ENST00000159060.2	37	c.357	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000074771		0.537	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	71	0.00	0	C			155764536	155764536	-1	no_errors	ENST00000159060	ensembl	human	known	69_37n	silent	49	33.78	25	SNP	0.015	T
NPFFR2	10886	genome.wustl.edu	37	4	73012922	73012922	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:73012922A>G	ENST00000308744.6	+	4	1060	c.962A>G	c.(961-963)tAc>tGc	p.Y321C	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.Y219C|NPFFR2_ENST00000395999.1_Missense_Mutation_p.Y222C|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	321					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AGGAAGATCTACACCACTGTG	0.473																																						dbGAP											0													112.0	93.0	100.0					4																	73012922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.962A>G	4.37:g.73012922A>G	ENSP00000307822:p.Tyr321Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.Y321C	ENST00000308744.6	37	c.962	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608918	0.66558	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.48201	0.82;0.82;0.82	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.80889	0.4710	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88106	0.2822	10	0.87932	D	0	.	16.0128	0.80413	1.0:0.0:0.0:0.0	.	222;321	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	C	321;222;219	ENSP00000307822:Y321C;ENSP00000379321:Y222C;ENSP00000351599:Y219C	ENSP00000307822:Y321C	Y	+	2	0	NPFFR2	73231786	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	9.185000	0.94900	2.252000	0.74401	0.533000	0.62120	TAC	NPFFR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000056291		0.473	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	212	0.00	0	A	NM_004885		73012922	73012922	+1	no_errors	ENST00000308744	ensembl	human	known	69_37n	missense	210	17.97	46	SNP	1.000	G
NPFFR2	10886	genome.wustl.edu	37	4	73013327	73013327	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:73013327delA	ENST00000308744.6	+	4	1465	c.1367delA	c.(1366-1368)caafs	p.Q456fs	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Frame_Shift_Del_p.Q354fs|NPFFR2_ENST00000395999.1_Frame_Shift_Del_p.Q357fs|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	456					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAGCTCTGCCAAAAAAGAGCA	0.438																																						dbGAP											0													67.0	73.0	71.0					4																	73013327		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1367delA	4.37:g.73013327delA	ENSP00000307822:p.Gln456fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RV1|Q9NR49	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.R458fs	ENST00000308744.6	37	c.1367	CCDS3551.1	4																																																																																			NPFFR2	-	prints_NPFF_rcpt_2	ENSG00000056291		0.438	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	174	0.00	0	A	NM_004885		73013327	73013327	+1	no_errors	ENST00000308744	ensembl	human	known	69_37n	frame_shift_del	163	17.68	35	DEL	0.492	-
PDXDC1	23042	genome.wustl.edu	37	16	15204314	15204314	+	Intron	SNP	G	G	A	rs367619969		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:15204314G>A	ENST00000535621.2	+	17	1587				NPIPP1_ENST00000534799.2_RNA|RP11-72I8.1_ENST00000569858.1_RNA|RP11-1186N24.5_ENST00000605794.1_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGTCATGACGGTTGACTTTT	0.393																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-28422G>A	16.37:g.15204314G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	pfam_NPIP	p.R132C	ENST00000535621.2	37	c.394		16	.	.	.	.	.	.	.	.	.	.	.	7.587	0.669952	0.14776	.	.	ENSG00000188599	ENST00000547107	.	.	.	0.66	-1.32	0.09201	.	0.219182	0.34067	U	0.004297	T	0.48607	0.1509	.	.	.	0.09310	N	1	D;P	0.76494	0.999;0.701	P;B	0.61275	0.886;0.036	T	0.49790	-0.8902	7	0.72032	D	0.01	.	.	.	.	.	132;689	F8WBI2;Q6ZNL0	.;YP009_HUMAN	C	132	.	ENSP00000447959:R132C	R	-	1	0	NPIPP1	15111815	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.060000	0.03475	-1.298000	0.02348	-1.450000	0.01041	CGT	NPIPP1	-	pfam_NPIP	ENSG00000188599		0.393	PDXDC1-016	PUTATIVE	basic	protein_coding	NPIPP1	HGNC	protein_coding	OTTHUMT00000422421.1	172	0.00	0	G	NM_015027		15204314	15204314	-1	no_errors	ENST00000547107	ensembl	human	putative	69_37n	missense	173	19.53	42	SNP	0.000	A
NPR2	4882	genome.wustl.edu	37	9	35809217	35809217	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:35809217A>G	ENST00000342694.2	+	21	3306	c.3051A>G	c.(3049-3051)ctA>ctG	p.L1017L	SPAG8_ENST00000340291.2_Intron|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	1017					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTTCCAGCTAGAGCTTCGGG	0.552																																						dbGAP											0													109.0	110.0	110.0					9																	35809217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.3051A>G	9.37:g.35809217A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L1017	ENST00000342694.2	37	c.3051	CCDS6590.1	9																																																																																			NPR2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000159899		0.552	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	202	0.00	0	A			35809217	35809217	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	silent	86	34.59	46	SNP	0.999	G
NR4A2	4929	genome.wustl.edu	37	2	157185029	157185029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:157185029delT	ENST00000339562.4	-	4	1243	c.881delA	c.(880-882)aatfs	p.N294fs	NR4A2_ENST00000539077.1_Frame_Shift_Del_p.N305fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.N231fs|NR4A2_ENST00000429376.1_Frame_Shift_Del_p.N231fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.N294fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.N294fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	294					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTATTTTGCATTTTTTTGCAC	0.423																																						dbGAP											0													77.0	75.0	75.0					2																	157185029		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.881delA	2.37:g.157185029delT	ENSP00000344479:p.Asn294fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.N305fs	ENST00000339562.4	37	c.914	CCDS2201.1	2																																																																																			NR4A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000153234		0.423	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2	57	0.00	0	T			157185029	157185029	-1	no_errors	ENST00000539077	ensembl	human	known	69_37n	frame_shift_del	27	36.36	16	DEL	1.000	-
HABP2	3026	genome.wustl.edu	37	10	115348832	115348832	+	3'UTR	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:115348832delC	ENST00000351270.3	+	0	2483				NRAP_ENST00000369358.4_Frame_Shift_Del_p.A1707fs|NRAP_ENST00000360478.3_Frame_Shift_Del_p.A1664fs|NRAP_ENST00000369360.3_Frame_Shift_Del_p.A1672fs|HABP2_ENST00000542051.1_3'UTR|NRAP_ENST00000359988.3_Frame_Shift_Del_p.A1699fs	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ACTGCTTCTGCCCCCCGCTGC	0.567																																						dbGAP											0													82.0	81.0	82.0					10																	115348832		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.*704C>-	10.37:g.115348832delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K467|B7Z8U5|F5H5M6|O00663	Frame_Shift_Del	DEL	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.A1707fs	ENST00000351270.3	37	c.5119	CCDS7577.1	10																																																																																			NRAP	-	NULL	ENSG00000197893		0.567	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050428.1	75	0.00	0	C	NM_004132		115348832	115348832	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	frame_shift_del	46	12.96	7	DEL	0.001	-
NSD1	64324	genome.wustl.edu	37	5	176720848	176720848	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:176720848C>T	ENST00000439151.2	+	23	6524	c.6479C>T	c.(6478-6480)cCg>cTg	p.P2160L	NSD1_ENST00000361032.4_Missense_Mutation_p.P2057L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1891L|NSD1_ENST00000354179.4_Missense_Mutation_p.P1891L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2160					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGGAATGTCCGTGGCATCAG	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													105.0	105.0	105.0					5																	176720848		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6479C>T	5.37:g.176720848C>T	ENSP00000395929:p.Pro2160Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P2160L	ENST00000439151.2	37	c.6479	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341524	0.81911	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.93746	0.8001	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93413	0.6770	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1891;2160	Q96L73-2;Q96L73	.;NSD1_HUMAN	L	1891;2160;1891;2057	ENSP00000346111:P1891L;ENSP00000395929:P2160L;ENSP00000343209:P1891L;ENSP00000354310:P2057L	ENSP00000343209:P1891L	P	+	2	0	NSD1	176653454	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCG	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000165671		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	149	0.00	0	C	NM_172349		176720848	176720848	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	105	23.91	33	SNP	1.000	T
NTF3	4908	genome.wustl.edu	37	12	5603725	5603725	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:5603725G>A	ENST00000331010.6	+	1	428	c.345G>A	c.(343-345)ccG>ccA	p.P115P	NTF3_ENST00000423158.3_Silent_p.P128P|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	115					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGGAGCCCCCGCCCTTGTATC	0.612																																					GBM(194;1104 2182 8339 9578 18493)	dbGAP											0													58.0	62.0	61.0					12																	5603725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.345G>A	12.37:g.5603725G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1T5|Q6FH50	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3	p.P115	ENST00000331010.6	37	c.345	CCDS8538.1	12																																																																																			NTF3	-	pirsf_Nerve_growth_factor-like	ENSG00000185652		0.612	NTF3-002	KNOWN	basic|CCDS	protein_coding	NTF3	HGNC	protein_coding	OTTHUMT00000400486.1	85	0.00	0	G			5603725	5603725	+1	no_errors	ENST00000331010	ensembl	human	known	69_37n	silent	70	14.29	12	SNP	0.119	A
NUFIP2	57532	genome.wustl.edu	37	17	27613244	27613244	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:27613244C>T	ENST00000225388.4	-	2	1826	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	590						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AAGGATAAGGCTCCACTCTCA	0.468																																						dbGAP											0													102.0	99.0	100.0					17																	27613244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1768G>A	17.37:g.27613244C>T	ENSP00000225388:p.Ala590Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A6|Q9P2M5	Missense_Mutation	SNP	NULL	p.A590T	ENST00000225388.4	37	c.1768	CCDS32600.1	17	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300061	0.60195	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.02	5.02	0.67125	.	0.146690	0.45867	D	0.000326	T	0.44623	0.1302	N	0.24115	0.695	0.80722	D	1	B	0.26195	0.144	B	0.24848	0.056	T	0.26467	-1.0102	9	0.21014	T	0.42	-0.6727	17.3608	0.87349	0.0:0.8756:0.1244:0.0	.	590	Q7Z417	NUFP2_HUMAN	T	590	.	ENSP00000225388:A590T	A	-	1	0	NUFIP2	24637370	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.768000	0.55295	2.865000	0.98341	0.655000	0.94253	GCC	NUFIP2	-	NULL	ENSG00000108256		0.468	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP2	HGNC	protein_coding	OTTHUMT00000447015.2	115	0.00	0	C	NM_020772		27613244	27613244	-1	no_errors	ENST00000225388	ensembl	human	known	69_37n	missense	89	19.09	21	SNP	1.000	T
NUMB	8650	genome.wustl.edu	37	14	73746055	73746055	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:73746055G>A	ENST00000355058.3	-	12	1452	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	NUMB_ENST00000555394.1_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.R381C|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.R392C|NUMB_ENST00000554546.1_Intron|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000359560.3_Missense_Mutation_p.R381C|NUMB_ENST00000557597.1_Missense_Mutation_p.R381C|NUMB_ENST00000556772.1_Missense_Mutation_p.R248C|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000559312.1_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	392					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R392C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTGGTTTCACGCACAGGCATT	0.542																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											127.0	100.0	109.0					14																	73746055		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1174C>T	14.37:g.73746055G>A	ENSP00000347169:p.Arg392Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.R392C	ENST00000355058.3	37	c.1174	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.392314	0.95988	.	.	ENSG00000133961	ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000535282	T;T;T;T;T;T	0.54279	0.58;0.58;1.2;0.58;0.58;0.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.959	T	0.66380	-0.5938	10	0.72032	D	0.01	-9.7887	19.614	0.95622	0.0:0.0:1.0:0.0	.	381;392	P49757-3;P49757	.;NUMB_HUMAN	C	381;392;248;392;381;381	ENSP00000451117:R381C;ENSP00000451300:R392C;ENSP00000451513:R248C;ENSP00000347169:R392C;ENSP00000352563:R381C;ENSP00000441258:R381C	ENSP00000347169:R392C	R	-	1	0	NUMB	72815808	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.715000	0.84713	2.873000	0.98535	0.561000	0.74099	CGT	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.542	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	57	0.00	0	G			73746055	73746055	-1	no_errors	ENST00000355058	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	A
NUP107	57122	genome.wustl.edu	37	12	69126366	69126366	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:69126366delA	ENST00000229179.4	+	23	2330				NUP107_ENST00000378905.2_Intron|NUP107_ENST00000401003.3_3'UTR|NUP107_ENST00000539906.1_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAATATCTTTAAAAAAAAAAC	0.284																																						dbGAP											0										101,187,3890		5,0,91,9,169,1815						-4.4	0.0			11	121,370,7717		1,0,119,6,358,3620	no	intron	NUP107	NM_020401.2		6,0,210,15,527,5435	A1A1,A1A2,A1R,A2A2,A2R,RR		5.982,6.8933,6.2894				222,557,11607				-	-	-	SO:0001627	intron_variant	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1999-51A>-	12.37:g.69126366delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ67|Q6PJE1	RNA	DEL	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			NUP107	-	-	ENSG00000111581		0.284	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	29	0.00	0	A	NM_020401		69126366	69126366	+1	no_errors	ENST00000401003	ensembl	human	putative	69_37n	rna	13	45.83	11	DEL	0.000	-
NUP62	23636	genome.wustl.edu	37	19	50411867	50411867	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:50411867G>A	ENST00000596217.1	-	2	3085	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NUP62_ENST00000597723.1_Nonsense_Mutation_p.Q324*|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Nonsense_Mutation_p.Q400*|NUP62_ENST00000413454.1_Nonsense_Mutation_p.Q400*|NUP62_ENST00000597029.1_Nonsense_Mutation_p.Q400*|NUP62_ENST00000422090.2_Nonsense_Mutation_p.Q400*			P37198	NUP62_HUMAN	nucleoporin 62kDa	400					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCTCCTTCTGCTGGGACAGG	0.587																																						dbGAP											0													110.0	103.0	106.0					19																	50411867		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1198C>T	19.37:g.50411867G>A	ENSP00000471191:p.Gln400*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Nonsense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.Q400*	ENST00000596217.1	37	c.1198	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.600591	0.98384	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.972	16.2382	0.82393	0.0:0.0:1.0:0.0	.	.	.	.	X	400	.	.	Q	-	1	0	NUP62	55103679	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.286000	0.95898	2.775000	0.95449	0.655000	0.94253	CAG	NUP62	-	pfam_Nucleoporin_NSP1_C	ENSG00000213024		0.587	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	71	0.00	0	G	NM_153719		50411867	50411867	-1	no_errors	ENST00000352066	ensembl	human	known	69_37n	nonsense	47	17.54	10	SNP	1.000	A
NUP98	4928	genome.wustl.edu	37	11	3723898	3723898	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:3723898G>A	ENST00000324932.7	-	23	3727	c.3307C>T	c.(3307-3309)Cgt>Tgt	p.R1103C	NUP98_ENST00000359171.4_Missense_Mutation_p.R1103C|NUP98_ENST00000355260.3_Missense_Mutation_p.R1103C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1120					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GACTTTTCACGAGGGACTAGG	0.542			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													108.0	93.0	98.0					11																	3723898		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3307C>T	11.37:g.3723898G>A	ENSP00000316032:p.Arg1103Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.R1103C	ENST00000324932.7	37	c.3307	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642615	0.67244	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.35	5.35	0.76521	.	0.140094	0.48767	D	0.000172	T	0.24005	0.0581	N	0.08118	0	0.30295	N	0.790024	B;D	0.55385	0.259;0.971	B;B	0.42798	0.008;0.398	T	0.06752	-1.0809	9	0.36615	T	0.2	-8.3401	18.0477	0.89337	0.0:0.0:1.0:0.0	.	1103;1103	P52948-2;P52948-5	.;.	C	1103	.	ENSP00000316032:R1103C	R	-	1	0	NUP98	3680474	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	4.095000	0.57728	2.496000	0.84212	0.462000	0.41574	CGT	NUP98	-	NULL	ENSG00000110713		0.542	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	125	0.00	0	G	NM_016320		3723898	3723898	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	101	15.13	18	SNP	1.000	A
OAT	4942	genome.wustl.edu	37	10	126091634	126091634	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:126091634delA	ENST00000368845.5	-	7	864				OAT_ENST00000539214.1_Intron|OAT_ENST00000467675.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CCTATTGGGGAAAAAAAATAC	0.398																																						dbGAP											0													63.0	72.0	69.0					10																	126091634		2200	4292	6492	-	-	-	SO:0001627	intron_variant	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.772-10T>-	10.37:g.126091634delA		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	RNA	DEL	-	NULL	ENST00000368845.5	37	NULL	CCDS7639.1	10																																																																																			OAT	-	-	ENSG00000065154		0.398	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	153	0.00	0	A	NM_000274		126091634	126091634	-1	no_errors	ENST00000471127	ensembl	human	known	69_37n	rna	106	18.46	24	DEL	0.000	-
OBSCN	84033	genome.wustl.edu	37	1	228432211	228432211	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:228432211T>C	ENST00000422127.1	+	11	3464	c.3420T>C	c.(3418-3420)gaT>gaC	p.D1140D	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.D1232D|OBSCN_ENST00000284548.11_Silent_p.D1140D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1140	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAAAGCAGATGCTGGGGAGT	0.557																																						dbGAP											0													73.0	82.0	79.0					1																	228432211		2052	4193	6245	-	-	-	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3420T>C	1.37:g.228432211T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D1140	ENST00000422127.1	37	c.3420	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		128	0.00	0	T	NM_052843		228432211	228432211	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	silent	138	15.85	26	SNP	0.992	C
OBSCN	84033	genome.wustl.edu	37	1	228476543	228476544	+	Frame_Shift_Ins	INS	-	-	TG	rs565022614		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:228476543_228476544insTG	ENST00000422127.1	+	38	10337_10338	c.10293_10294insTG	c.(10294-10296)tgtfs	p.C3432fs	OBSCN_ENST00000570156.2_Frame_Shift_Ins_p.C3861fs|OBSCN_ENST00000284548.11_Frame_Shift_Ins_p.C3432fs|OBSCN_ENST00000359599.6_Frame_Shift_Ins_p.C2279fs|OBSCN_ENST00000366709.4_Frame_Shift_Ins_p.C551fs|OBSCN_ENST00000366707.4_Frame_Shift_Ins_p.C551fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3432	Ig-like 34.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGAGTACTCCTGTGTGTGTGG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10302_10303dupTG	1.37:g.228476552_228476553dupTG	ENSP00000409493:p.Cys3432fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.G3434fs	ENST00000422127.1	37	c.10293_10294	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.614	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		58	0.00	0	-	NM_052843		228476543	228476544	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.000:0.996	TG
OBSL1	23363	genome.wustl.edu	37	2	220421323	220421323	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:220421323C>T	ENST00000404537.1	-	13	4245	c.4189G>A	c.(4189-4191)Gcc>Acc	p.A1397T	RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1305T|OBSL1_ENST00000603926.1_Missense_Mutation_p.A1397T|OBSL1_ENST00000265317.5_Missense_Mutation_p.A296T|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1305T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1397	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGACGACGGCCCCATTGCGC	0.627																																						dbGAP											0													56.0	63.0	61.0					2																	220421323		2144	4249	6393	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4189G>A	2.37:g.220421323C>T	ENSP00000385636:p.Ala1397Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A1397T	ENST00000404537.1	37	c.4189	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	2.298	-0.360794	0.05103	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000265317	T;T;T;T	0.67171	2.73;-0.25;-0.25;-0.25	4.36	0.187	0.15109	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35393	0.0930	N	0.04669	-0.19	0.09310	N	1	B;B;B;B	0.19331	0.016;0.0;0.002;0.035	B;B;B;B	0.24006	0.05;0.002;0.01;0.05	T	0.20075	-1.0286	9	0.18276	T	0.48	.	1.2659	0.02011	0.1312:0.282:0.1893:0.3975	.	204;1398;1397;296	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	T	1305;1397;1305;296	ENSP00000265318:A1305T;ENSP00000385636:A1397T;ENSP00000362983:A1305T;ENSP00000265317:A296T	ENSP00000265317:A296T	A	-	1	0	OBSL1	220129567	0.042000	0.20092	0.000000	0.03702	0.004000	0.04260	0.393000	0.20817	0.138000	0.18790	-0.339000	0.08088	GCC	OBSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124006		0.627	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	108	0.00	0	C			220421323	220421323	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	0.000	T
OGFOD1	55239	genome.wustl.edu	37	16	56501107	56501107	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:56501107C>T	ENST00000566157.1	+	7	811	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	230	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAAAAGTCACGTTTGTCTAT	0.483																																						dbGAP											0													203.0	196.0	198.0					16																	56501107		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.688C>T	16.37:g.56501107C>T	ENSP00000457258:p.Arg230Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.R230C	ENST00000566157.1	37	c.688	CCDS10761.2	16	.	.	.	.	.	.	.	.	.	.	C	35	5.550003	0.96501	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	6.06	6.06	0.98353	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.91294	0.7255	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93748	0.7056	9	0.87932	D	0	-0.2494	20.2159	0.98296	0.0:1.0:0.0:0.0	.	230	Q8N543	OGFD1_HUMAN	C	230;74	.	ENSP00000337196:R230C	R	+	1	0	OGFOD1	55058608	1.000000	0.71417	0.846000	0.33378	0.999000	0.98932	7.605000	0.82844	2.882000	0.98803	0.655000	0.94253	CGT	OGFOD1	-	smart_Pro_4_hyd_alph	ENSG00000087263		0.483	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	218	0.00	0	C	NM_018233		56501107	56501107	+1	no_errors	ENST00000566157	ensembl	human	known	69_37n	missense	210	22.71	62	SNP	1.000	T
OLFM4	10562	genome.wustl.edu	37	13	53624266	53624266	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:53624266G>A	ENST00000219022.2	+	5	971	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	298	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACAGATGGGAGACTGTTGGAG	0.443																																						dbGAP											0													118.0	103.0	108.0					13																	53624266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.893G>A	13.37:g.53624266G>A	ENSP00000219022:p.Arg298Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.R298K	ENST00000219022.2	37	c.893	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816529	0.32145	.	.	ENSG00000102837	ENST00000219022	D	0.90732	-2.72	5.92	2.25	0.28309	Olfactomedin-like (3);	0.253043	0.44483	N	0.000442	D	0.92890	0.7738	M	0.70903	2.155	0.09310	N	0.999991	P	0.46064	0.872	P	0.61397	0.888	D	0.85275	0.1058	10	0.30078	T	0.28	.	10.2915	0.43599	0.1609:0.0:0.7367:0.1024	.	298	Q6UX06	OLFM4_HUMAN	K	298	ENSP00000219022:R298K	ENSP00000219022:R298K	R	+	2	0	OLFM4	52522267	0.769000	0.28531	0.022000	0.16811	0.008000	0.06430	1.525000	0.35953	-0.075000	0.12798	-1.761000	0.00669	AGA	OLFM4	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000102837		0.443	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	256	0.00	0	G	NM_006418		53624266	53624266	+1	no_errors	ENST00000219022	ensembl	human	known	69_37n	missense	195	21.60	54	SNP	0.250	A
OLFML3	56944	genome.wustl.edu	37	1	114523959	114523959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:114523959delC	ENST00000320334.4	+	3	863	c.789delC	c.(787-789)atcfs	p.I263fs	OLFML3_ENST00000393300.2_Frame_Shift_Del_p.I243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Frame_Shift_Del_p.I243fs	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGGCTGATCCCCCCCTACG	0.557																																						dbGAP											0													76.0	69.0	71.0					1																	114523959		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.789delC	1.37:g.114523959delC	ENSP00000322273:p.Ile263fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Frame_Shift_Del	DEL	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.Y266fs	ENST00000320334.4	37	c.789	CCDS870.1	1																																																																																			OLFML3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000116774		0.557	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	165	0.00	0	C	NM_020190		114523959	114523959	+1	no_errors	ENST00000320334	ensembl	human	known	69_37n	frame_shift_del	103	33.95	55	DEL	1.000	-
OLFML2B	25903	genome.wustl.edu	37	1	161953687	161953687	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:161953687G>A	ENST00000294794.3	-	8	2454	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	OLFML2B_ENST00000367938.1_Silent_p.F160F|OLFML2B_ENST00000367940.2_Silent_p.F678F	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	677	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CACAGATGACGAAGCAGTTGC	0.567																																						dbGAP											0													210.0	191.0	197.0					1																	161953687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2031C>T	1.37:g.161953687G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.F677	ENST00000294794.3	37	c.2031	CCDS1236.1	1																																																																																			OLFML2B	-	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.567	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	164	0.00	0	G	NM_015441		161953687	161953687	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	silent	123	32.79	60	SNP	0.990	A
OR10G8	219869	genome.wustl.edu	37	11	123901043	123901043	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:123901043G>T	ENST00000431524.1	+	1	747	c.714G>T	c.(712-714)caG>caT	p.Q238H		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGCCTTTCAGACCTGTGCCT	0.557																																						dbGAP											0													171.0	145.0	153.0					11																	123901043		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.714G>T	11.37:g.123901043G>T	ENSP00000389072:p.Gln238His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q238H	ENST00000431524.1	37	c.714	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155124	0.38021	.	.	ENSG00000234560	ENST00000431524	T	0.00115	8.71	2.91	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001072	T	0.00178	0.0005	N	0.14661	0.345	0.32621	N	0.523317	D	0.76494	0.999	D	0.79108	0.992	T	0.71849	-0.4468	10	0.72032	D	0.01	.	6.3675	0.21463	0.1175:0.3211:0.5614:0.0	.	238	Q8NGN5	O10G8_HUMAN	H	238	ENSP00000389072:Q238H	ENSP00000389072:Q238H	Q	+	3	2	OR10G8	123406253	0.000000	0.05858	1.000000	0.80357	0.792000	0.44763	-0.398000	0.07259	1.611000	0.50210	0.557000	0.71058	CAG	OR10G8	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000234560		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	290	0.00	0	G	NM_001004464		123901043	123901043	+1	no_errors	ENST00000431524	ensembl	human	known	69_37n	missense	162	29.26	67	SNP	0.951	T
OR14C36	127066	genome.wustl.edu	37	1	248512383	248512384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:248512383_248512384insT	ENST00000317861.1	+	1	307_308	c.307_308insT	c.(307-309)gttfs	p.V103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTCCTCGTGGTTTTTTTTGTA	0.48																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)								1,4261		0,1,2130						-6.8	0.0			63	1,8243		0,1,4121	no	frameshift	OR14C36	NM_001001918.1		0,2,6251	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12504				-	-	-	SO:0001589	frameshift_variant	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.315dupT	1.37:g.248512391_248512391dupT	ENSP00000324534:p.Val103fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V106fs	ENST00000317861.1	37	c.307_308	CCDS31112.1	1																																																																																			OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.480	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	161	0.62	1	-	NM_001001918		248512383	248512384	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	frame_shift_ins	153	15.00	27	INS	0.000:0.004	T
OR1J1	347168	genome.wustl.edu	37	9	125240101	125240101	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:125240101G>A	ENST00000259357.2	-	1	134	c.105C>T	c.(103-105)taC>taT	p.Y35Y	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCGTGGTCAGGTACATGCCCA	0.607																																						dbGAP											0													167.0	141.0	150.0					9																	125240101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.105C>T	9.37:g.125240101G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFL8|Q6IF10|Q96R88	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y35	ENST00000259357.2	37	c.105	CCDS35120.1	9																																																																																			OR1J1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000136834		0.607	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	226	0.00	0	G			125240101	125240101	-1	no_errors	ENST00000259357	ensembl	human	known	69_37n	silent	167	22.33	48	SNP	1.000	A
OR3A2	4995	genome.wustl.edu	37	17	3181584	3181584	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:3181584C>T	ENST00000408891.2	-	1	684	c.646G>A	c.(646-648)Gca>Aca	p.A216T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	216					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGTGTGCCTGCCATGATGAAA	0.547																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	dbGAP											0													83.0	78.0	79.0					17																	3181584		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.646G>A	17.37:g.3181584C>T	ENSP00000386180:p.Ala216Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A216T	ENST00000408891.2	37	c.646	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	C	8.285	0.816367	0.16607	.	.	ENSG00000221882	ENST00000408891	T	0.36878	1.23	4.83	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.605944	0.14664	N	0.305759	T	0.29288	0.0729	L	0.28274	0.84	0.09310	N	1	B	0.24675	0.109	B	0.36922	0.236	T	0.35574	-0.9783	10	0.21540	T	0.41	-0.1752	10.1604	0.42849	0.0:0.8349:0.0:0.1651	.	216	P47893	OR3A2_HUMAN	T	216	ENSP00000386180:A216T	ENSP00000386180:A216T	A	-	1	0	OR3A2	3128334	0.000000	0.05858	0.095000	0.20976	0.013000	0.08279	-0.159000	0.10056	0.763000	0.33175	0.511000	0.50034	GCA	OR3A2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221882		0.547	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	259	0.00	0	C			3181584	3181584	-1	no_errors	ENST00000408891	ensembl	human	known	69_37n	missense	155	40.68	107	SNP	0.250	T
OR4K5	79317	genome.wustl.edu	37	14	20389601	20389601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:20389601delC	ENST00000315915.4	+	1	861	c.836delC	c.(835-837)accfs	p.T279fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTGTTTTCACCCCCGTCCTA	0.393																																						dbGAP											0													165.0	175.0	171.0					14																	20389601		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.836delC	14.37:g.20389601delC	ENSP00000319511:p.Thr279fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFA7	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V281fs	ENST00000315915.4	37	c.836	CCDS32024.1	14																																																																																			OR4K5	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176281		0.393	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K5	HGNC	protein_coding	OTTHUMT00000409867.1	593	0.00	0	C	NM_001005483		20389601	20389601	+1	no_errors	ENST00000315915	ensembl	human	known	69_37n	frame_shift_del	550	10.39	64	DEL	0.470	-
OR4N4	283694	genome.wustl.edu	37	15	22383102	22383103	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:22383102_22383103insT	ENST00000328795.4	+	1	721_722	c.630_631insT	c.(631-633)tttfs	p.F211fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACTCCTGTGCTTTCTGGGGCT	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.633dupT	15.37:g.22383105_22383105dupT	ENSP00000332500:p.Phe211fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEY3|Q6IF56	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L211fs	ENST00000328795.4	37	c.630_631	CCDS32173.1	15																																																																																			OR4N4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183706		0.530	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	165	0.00	0	-			22383102	22383103	+1	no_errors	ENST00000328795	ensembl	human	known	69_37n	frame_shift_ins	117	22.00	33	INS	0.017:0.196	T
OR51E2	81285	genome.wustl.edu	37	11	4703006	4703006	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:4703006C>A	ENST00000396950.3	-	2	1175	c.936G>T	c.(934-936)aaG>aaT	p.K312N		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	312					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCTGCAAGTCCTTGTCACAGC	0.443																																						dbGAP											0													144.0	124.0	131.0					11																	4703006		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.936G>T	11.37:g.4703006C>A	ENSP00000380153:p.Lys312Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K312N	ENST00000396950.3	37	c.936	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687679	0.29962	.	.	ENSG00000167332	ENST00000396950	T	0.01963	4.53	5.16	3.3	0.37823	.	0.141481	0.32218	N	0.006401	T	0.01353	0.0044	N	0.08118	0	0.33769	D	0.622831	B	0.26635	0.155	B	0.25405	0.06	T	0.46527	-0.9185	10	0.37606	T	0.19	.	6.5979	0.22685	0.0:0.6524:0.0:0.3476	.	312	Q9H255	O51E2_HUMAN	N	312	ENSP00000380153:K312N	ENSP00000380153:K312N	K	-	3	2	OR51E2	4659582	0.039000	0.19947	0.981000	0.43875	0.873000	0.50193	-0.088000	0.11198	0.756000	0.33013	-0.140000	0.14226	AAG	OR51E2	-	NULL	ENSG00000167332		0.443	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1	203	0.00	0	C	NM_030774		4703006	4703006	-1	no_errors	ENST00000396950	ensembl	human	known	69_37n	missense	184	18.22	41	SNP	0.908	A
OR51G2	81282	genome.wustl.edu	37	11	4936640	4936640	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:4936640G>A	ENST00000322013.3	-	1	282	c.254C>T	c.(253-255)aCa>aTa	p.T85I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAGGACTGTAGGGAGAGT	0.478																																						dbGAP											0													82.0	73.0	76.0					11																	4936640		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.254C>T	11.37:g.4936640G>A	ENSP00000322593:p.Thr85Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFH7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T85I	ENST00000322013.3	37	c.254	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440486	0.25900	.	.	ENSG00000176893	ENST00000322013	T	0.03035	4.07	5.58	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.14184	0.0343	M	0.91090	3.175	0.32367	N	0.556333	D	0.54601	0.967	P	0.51193	0.662	T	0.27297	-1.0078	10	0.87932	D	0	.	9.3439	0.38096	0.0764:0.0:0.7797:0.1439	.	85	Q8NGK0	O51G2_HUMAN	I	85	ENSP00000322593:T85I	ENSP00000322593:T85I	T	-	2	0	OR51G2	4893216	0.000000	0.05858	0.977000	0.42913	0.050000	0.14768	-0.180000	0.09754	1.572000	0.49736	0.655000	0.94253	ACA	OR51G2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176893		0.478	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	108	0.00	0	G	NM_001005238		4936640	4936640	-1	no_errors	ENST00000322013	ensembl	human	known	69_37n	missense	91	19.47	22	SNP	0.924	A
OR51A2	401667	genome.wustl.edu	37	11	4976651	4976651	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:4976651G>A	ENST00000380371.1	-	1	292	c.293C>T	c.(292-294)gCc>gTc	p.A98V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAAAGCAGGCACTAGAAGA	0.448																																						dbGAP											0													134.0	104.0	115.0					11																	4976651		1879	3354	5233	-	-	-	SO:0001583	missense	0			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.293C>T	11.37:g.4976651G>A	ENSP00000369729:p.Ala98Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A98V	ENST00000380371.1	37	c.293	CCDS31368.1	11	.	.	.	.	.	.	.	.	.	.	-	7.013	0.557169	0.13436	.	.	ENSG00000205496	ENST00000380371	T	0.03124	4.04	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09598	0.0236	M	0.86097	2.795	0.27463	N	0.953082	B	0.27732	0.187	B	0.34931	0.192	T	0.03673	-1.1014	9	0.66056	D	0.02	.	9.4127	0.38503	0.0:0.2197:0.7803:0.0	.	98	Q8NGJ7	O51A2_HUMAN	V	98	ENSP00000369729:A98V	ENSP00000369729:A98V	A	-	2	0	OR51A2	4933227	0.003000	0.15002	0.453000	0.27007	0.273000	0.26683	0.879000	0.28146	1.644000	0.50603	0.395000	0.25975	GCC	OR51A2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000205496		0.448	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A2	HGNC	protein_coding	OTTHUMT00000142809.1	590	0.17	1	G	NM_001004748		4976651	4976651	-1	no_errors	ENST00000380371	ensembl	human	known	69_37n	missense	604	19.97	151	SNP	0.962	A
OR5AU1	390445	genome.wustl.edu	37	14	21623944	21623944	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:21623944C>T	ENST00000304418.3	-	1	278	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCCAGGAACACCACGAAGAGC	0.582																																						dbGAP											0													106.0	84.0	91.0					14																	21623944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.241G>A	14.37:g.21623944C>T	ENSP00000302057:p.Val81Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V81M	ENST00000304418.3	37	c.241	CCDS32042.1	14	.	.	.	.	.	.	.	.	.	.	C	7.572	0.667032	0.14710	.	.	ENSG00000169327	ENST00000304418	T	0.03035	4.07	4.58	3.61	0.41365	.	.	.	.	.	T	0.03178	0.0093	L	0.28694	0.88	0.09310	N	1	B	0.28439	0.212	B	0.28784	0.094	T	0.37776	-0.9691	9	0.39692	T	0.17	.	5.0105	0.14310	0.0:0.6629:0.2189:0.1182	.	81	Q8NGC0	O5AU1_HUMAN	M	81	ENSP00000302057:V81M	ENSP00000302057:V81M	V	-	1	0	OR5AU1	20693784	0.000000	0.05858	0.971000	0.41717	0.259000	0.26198	-0.426000	0.07008	2.383000	0.81215	0.491000	0.48974	GTG	OR5AU1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000169327		0.582	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	HGNC	protein_coding	OTTHUMT00000410213.1	138	0.00	0	C			21623944	21623944	-1	no_errors	ENST00000304418	ensembl	human	known	69_37n	missense	117	16.43	23	SNP	0.038	T
OR5C1	392391	genome.wustl.edu	37	9	125551761	125551761	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:125551761G>A	ENST00000373680.2	+	1	612	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTTCTTCTGCGATATCCCTCC	0.562																																						dbGAP											0													96.0	86.0	89.0					9																	125551761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.550G>A	9.37:g.125551761G>A	ENSP00000362784:p.Asp184Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D184N	ENST00000373680.2	37	c.550	CCDS35131.1	9	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041740	0.55003	.	.	ENSG00000148215	ENST00000373680	T	0.00188	8.59	5.26	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	U	0.001998	T	0.00356	0.0011	M	0.92077	3.27	0.26190	N	0.979592	B	0.30973	0.302	B	0.30105	0.111	T	0.10636	-1.0621	10	0.66056	D	0.02	.	13.1993	0.59758	0.078:0.0:0.922:0.0	.	184	Q8NGR4	OR5C1_HUMAN	N	184	ENSP00000362784:D184N	ENSP00000362784:D184N	D	+	1	0	OR5C1	124591582	0.715000	0.27946	0.528000	0.27938	0.760000	0.43138	1.924000	0.40065	1.449000	0.47699	0.655000	0.94253	GAT	OR5C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000148215		0.562	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5C1	HGNC	protein_coding	OTTHUMT00000053953.1	118	0.00	0	G			125551761	125551761	+1	no_errors	ENST00000373680	ensembl	human	known	69_37n	missense	122	13.48	19	SNP	0.623	A
OR5D16	390144	genome.wustl.edu	37	11	55606403	55606403	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:55606403C>T	ENST00000378396.1	+	1	176	c.176C>T	c.(175-177)aCc>aTc	p.T59I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAATTGCATACCCCCATGTAT	0.428																																						dbGAP											0													178.0	174.0	175.0					11																	55606403		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.176C>T	11.37:g.55606403C>T	ENSP00000367649:p.Thr59Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T59I	ENST00000378396.1	37	c.176	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	11.82	1.753429	0.31046	.	.	ENSG00000205029	ENST00000378396	T	0.00479	7.12	4.05	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00967	0.0032	M	0.84948	2.725	0.25005	N	0.991441	B	0.27625	0.183	B	0.39027	0.288	T	0.11421	-1.0588	9	0.72032	D	0.01	-16.7611	12.2084	0.54365	0.0:0.8266:0.1734:0.0	.	59	Q8NGK9	OR5DG_HUMAN	I	59	ENSP00000367649:T59I	ENSP00000367649:T59I	T	+	2	0	OR5D16	55362979	0.000000	0.05858	0.995000	0.50966	0.799000	0.45148	0.157000	0.16402	2.021000	0.59480	0.530000	0.56133	ACC	OR5D16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205029		0.428	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	534	0.00	0	C	NM_001005496		55606403	55606403	+1	no_errors	ENST00000378396	ensembl	human	known	69_37n	missense	475	17.22	99	SNP	0.952	T
OR5J2	282775	genome.wustl.edu	37	11	55944371	55944372	+	Frame_Shift_Ins	INS	-	-	T	rs144285429		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:55944371_55944372insT	ENST00000312298.1	+	1	278_279	c.278_279insT	c.(277-282)tctttcfs	p.SF93fs		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCAACAATTTCTTTCTCTGCTT	0.45																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.281dupT	11.37:g.55944374_55944374dupT	ENSP00000310788:p.Ser93fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU5	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.S95fs	ENST00000312298.1	37	c.278_279	CCDS31522.1	11																																																																																			OR5J2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174957		0.450	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	210	0.00	0	-	NM_001005492		55944371	55944372	+1	no_errors	ENST00000312298	ensembl	human	known	69_37n	frame_shift_ins	204	18.07	45	INS	0.003:0.000	T
OR5M1	390168	genome.wustl.edu	37	11	56380045	56380045	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:56380045T>C	ENST00000526538.1	-	1	933	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ACTGCAATTTTATGAAAGGAT	0.378																																						dbGAP											0													124.0	124.0	124.0					11																	56380045		1842	4091	5933	-	-	-	SO:0001583	missense	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.934A>G	11.37:g.56380045T>C	ENSP00000435416:p.Lys312Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K312E	ENST00000526538.1	37	c.934	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097353	0.37048	.	.	ENSG00000255012	ENST00000526538	T	0.03468	3.92	3.26	0.61	0.17580	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P	0.38992	0.653	B	0.38803	0.282	T	0.46148	-0.9212	9	0.72032	D	0.01	.	5.0406	0.14456	0.6128:0.1001:0.0:0.2871	.	312	Q8NGP8	OR5M1_HUMAN	E	312	ENSP00000435416:K312E	ENSP00000435416:K312E	K	-	1	0	OR5M1	56136621	0.908000	0.30866	0.001000	0.08648	0.187000	0.23431	1.369000	0.34227	0.017000	0.15025	0.232000	0.17820	AAA	OR5M1	-	NULL	ENSG00000255012		0.378	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	265	0.00	0	T	NM_001004740		56380045	56380045	-1	no_errors	ENST00000526538	ensembl	human	known	69_37n	missense	172	37.68	104	SNP	0.005	C
OR6C1	390321	genome.wustl.edu	37	12	55714605	55714605	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:55714605C>A	ENST00000379668.2	+	1	260	c.222C>A	c.(220-222)gtC>gtA	p.V74V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TCACAACCGTCAGTATACCCA	0.378																																						dbGAP											0													58.0	60.0	59.0					12																	55714605		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.222C>A	12.37:g.55714605C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V74	ENST00000379668.2	37	c.222	CCDS31818.1	12																																																																																			OR6C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000205330		0.378	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	123	0.00	0	C	NM_001005182		55714605	55714605	+1	no_errors	ENST00000379668	ensembl	human	known	69_37n	silent	111	19.57	27	SNP	0.003	A
OR6F1	343169	genome.wustl.edu	37	1	247875544	247875544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:247875544delG	ENST00000302084.2	-	1	561	c.514delC	c.(514-516)cgtfs	p.R172fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TTGATGGCACGGGGGCCACAG	0.597																																						dbGAP											0													82.0	90.0	87.0					1																	247875544		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.514delC	1.37:g.247875544delG	ENSP00000305640:p.Arg172fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV6|Q6IF02|Q96R39	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R172fs	ENST00000302084.2	37	c.514	CCDS31095.1	1																																																																																			OR6F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169214		0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	124	0.00	0	G	NM_001005286		247875544	247875544	-1	no_errors	ENST00000302084	ensembl	human	known	69_37n	frame_shift_del	124	13.10	19	DEL	0.001	-
ORC2	4999	genome.wustl.edu	37	2	201785791	201785791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:201785791G>A	ENST00000234296.2	-	14	1468	c.1219C>T	c.(1219-1221)Caa>Taa	p.Q407*		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	407					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)	p.Q407E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CCAATGATTTGCTGGCTCTTC	0.353																																						dbGAP											1	Substitution - Missense(1)	lung(1)											102.0	97.0	99.0					2																	201785791		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1219C>T	2.37:g.201785791G>A	ENSP00000234296:p.Gln407*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13204|Q53TX5	Nonsense_Mutation	SNP	pfam_ORC2	p.Q407*	ENST00000234296.2	37	c.1219	CCDS2334.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.518295	0.98332	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.96	5.96	0.96718	.	0.112186	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-14.1506	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	407	.	ENSP00000234296:Q407X	Q	-	1	0	ORC2	201494036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.548000	0.82154	2.826000	0.97356	0.655000	0.94253	CAA	ORC2	-	pfam_ORC2	ENSG00000115942		0.353	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	36	0.00	0	G	NM_006190		201785791	201785791	-1	no_errors	ENST00000234296	ensembl	human	known	69_37n	nonsense	37	24.49	12	SNP	1.000	A
OS9	10956	genome.wustl.edu	37	12	58089792	58089792	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:58089792G>A	ENST00000315970.7	+	4	492	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	OS9_ENST00000439210.2_Missense_Mutation_p.A92T|OS9_ENST00000551035.1_Missense_Mutation_p.A151T|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Missense_Mutation_p.A151T|OS9_ENST00000389146.6_Missense_Mutation_p.A151T|OS9_ENST00000389142.5_Missense_Mutation_p.A151T|OS9_ENST00000257966.8_Missense_Mutation_p.A151T	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	151	PRKCSH.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTACCAATCAGCCTTCGACTG	0.527																																						dbGAP											0													88.0	82.0	84.0					12																	58089792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.451G>A	12.37:g.58089792G>A	ENSP00000318165:p.Ala151Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.A151T	ENST00000315970.7	37	c.451	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300664	0.60195	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000389142	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.83;1.8;3.85;1.81;1.8	5.28	2.1	0.27182	Glucosidase II beta subunit-like (1);	0.187996	0.44902	D	0.000417	T	0.13457	0.0326	N	0.20685	0.6	0.31493	N	0.665717	B;B;B;B;B;B;B	0.28291	0.076;0.063;0.028;0.087;0.035;0.035;0.206	B;B;B;B;B;B;B	0.23574	0.009;0.033;0.012;0.023;0.021;0.021;0.047	T	0.13656	-1.0501	10	0.25106	T	0.35	0.0188	8.9595	0.35838	0.0801:0.0:0.6421:0.2778	.	92;151;151;151;151;151;151	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	T	151;151;92;151;151;151;151	ENSP00000450010:A151T;ENSP00000318165:A151T;ENSP00000407360:A92T;ENSP00000373798:A151T;ENSP00000447866:A151T;ENSP00000257966:A151T;ENSP00000373794:A151T	ENSP00000257966:A151T	A	+	1	0	OS9	56376059	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	4.756000	0.62205	1.200000	0.43188	0.591000	0.81541	GCC	OS9	-	pfam_PRKCSH	ENSG00000135506		0.527	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	197	0.00	0	G	NM_006812		58089792	58089792	+1	no_errors	ENST00000315970	ensembl	human	known	69_37n	missense	169	34.85	92	SNP	0.856	A
OTOGL	283310	genome.wustl.edu	37	12	80655796	80655796	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:80655796C>T	ENST00000547103.1	+	18	1916	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	OTOGL_ENST00000458043.2_Missense_Mutation_p.A637V			Q3ZCN5	OTOGL_HUMAN	otogelin-like	637	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACGCAAATGCGTGGAGAGTT	0.413																																						dbGAP											0													146.0	146.0	146.0					12																	80655796		1918	4129	6047	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1910C>T	12.37:g.80655796C>T	ENSP00000447211:p.Ala637Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A637V	ENST00000547103.1	37	c.1910		12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934854	0.92458	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.17370	2.28;2.28	5.57	5.57	0.84162	.	.	.	.	.	T	0.49795	0.1578	M	0.87971	2.92	0.58432	D	0.999999	.	.	.	.	.	.	T	0.56335	-0.7996	7	0.72032	D	0.01	.	19.5529	0.95328	0.0:1.0:0.0:0.0	.	.	.	.	V	637	ENSP00000447211:A637V;ENSP00000400895:A637V	ENSP00000400895:A637V	A	+	2	0	OTOGL	79179927	1.000000	0.71417	0.965000	0.40720	0.740000	0.42216	7.336000	0.79245	2.621000	0.88768	0.655000	0.94253	GCG	OTOGL	-	NULL	ENSG00000165899		0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	229	0.43	1	C	NM_173591		80655796	80655796	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	210	24.46	68	SNP	1.000	T
OXR1	55074	genome.wustl.edu	37	8	107754450	107754451	+	Splice_Site	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:107754450_107754451insT	ENST00000442977.2	+	14	2419_2420	c.2320_2321insT	c.(2320-2322)gtt>gTtt	p.V774fs	OXR1_ENST00000531443.1_Splice_Site_p.V746fs|OXR1_ENST00000445937.1_Splice_Site_p.V746fs|OXR1_ENST00000517566.2_Splice_Site_p.V773fs|OXR1_ENST00000521592.1_Splice_Site_p.V19fs|OXR1_ENST00000452423.2_Splice_Site_p.V194fs|OXR1_ENST00000297447.6_Splice_Site_p.V143fs|OXR1_ENST00000449762.2_Splice_Site_p.V116fs|OXR1_ENST00000312046.6_Splice_Site_p.V739fs	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	774	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTATCCTTAGGTTTTTGGTGCG	0.337																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2320-1->T	8.37:g.107754455_107754455dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Frame_Shift_Ins	INS	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.G776fs	ENST00000442977.2	37	c.2320_2321	CCDS56548.1	8																																																																																			OXR1	-	pfam_TLDc,smart_TLDc	ENSG00000164830		0.337	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		76	0.00	0	-	NM_181354	Frame_Shift_Ins	107754450	107754451	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	frame_shift_ins	45	60.87	70	INS	1.000:1.000	T
P4HA1	5033	genome.wustl.edu	37	10	74828607	74828607	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:74828607G>A	ENST00000307116.2	-	5	576	c.460C>T	c.(460-462)Cca>Tca	p.P154S	P4HA1_ENST00000263556.3_Missense_Mutation_p.P154S|P4HA1_ENST00000440381.1_Missense_Mutation_p.P154S|P4HA1_ENST00000412021.2_Missense_Mutation_p.P154S|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000373008.2_Missense_Mutation_p.P154S|P4HA1_ENST00000394890.2_Missense_Mutation_p.P154S			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	154					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCTTACCTGGAAGATTACCC	0.378																																					Colon(147;367 2405 2662 52127)	dbGAP											0													146.0	138.0	141.0					10																	74828607		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.460C>T	10.37:g.74828607G>A	ENSP00000307318:p.Pro154Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P154S	ENST00000307116.2	37	c.460		10	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770940	0.90108	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.61	5.61	0.85477	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	M	0.64676	1.99	0.80722	D	1	B;P;P	0.41159	0.022;0.74;0.74	B;B;B	0.40782	0.06;0.34;0.34	T	0.31024	-0.9958	10	0.21540	T	0.41	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	154;154;154	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	S	154	ENSP00000307318:P154S;ENSP00000362099:P154S;ENSP00000411688:P154S;ENSP00000378353:P154S;ENSP00000263556:P154S;ENSP00000414464:P154S	ENSP00000263556:P154S	P	-	1	0	P4HA1	74498613	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.328000	0.96403	2.657000	0.90304	0.655000	0.94253	CCA	P4HA1	-	pfam_Pro_4_hyd_alph_N	ENSG00000122884		0.378	P4HA1-001	KNOWN	basic	protein_coding	P4HA1	HGNC	protein_coding	OTTHUMT00000048601.1	177	0.00	0	G	NM_000917		74828607	74828607	-1	no_errors	ENST00000263556	ensembl	human	known	69_37n	missense	138	21.47	38	SNP	1.000	A
P4HA2	8974	genome.wustl.edu	37	5	131543412	131543412	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:131543412C>T	ENST00000401867.1	-	9	1637	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	P4HA2_ENST00000166534.4_Missense_Mutation_p.A357T|P4HA2_ENST00000379086.1_Missense_Mutation_p.A357T|P4HA2_ENST00000379100.2_Missense_Mutation_p.A357T|P4HA2_ENST00000360568.3_Missense_Mutation_p.A357T|P4HA2_ENST00000379104.2_Missense_Mutation_p.A357T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	357					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTAGGTTTTGCGATCTCCTTG	0.517																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	dbGAP											0													195.0	151.0	166.0					5																	131543412		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1069G>A	5.37:g.131543412C>T	ENSP00000384999:p.Ala357Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A357T	ENST00000401867.1	37	c.1069	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.818360	0.96982	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.87	4.96	0.65561	Prolyl 4-hydroxylase, alpha subunit (1);	0.045125	0.85682	D	0.000000	T	0.78966	0.4367	M	0.88979	2.995	0.80722	D	1	D;D	0.76494	0.999;0.997	P;D	0.65684	0.866;0.937	T	0.82615	-0.0370	10	0.87932	D	0	-22.8246	17.0006	0.86380	0.1276:0.8724:0.0:0.0	.	357;357	O15460;O15460-2	P4HA2_HUMAN;.	T	357	ENSP00000384999:A357T;ENSP00000368379:A357T;ENSP00000166534:A357T;ENSP00000353772:A357T;ENSP00000368398:A357T;ENSP00000368394:A357T	ENSP00000166534:A357T	A	-	1	0	P4HA2	131571311	1.000000	0.71417	0.912000	0.35992	0.989000	0.77384	4.762000	0.62250	2.941000	0.99782	0.655000	0.94253	GCA	P4HA2	-	smart_Pro_4_hyd_alph	ENSG00000072682		0.517	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	43	0.00	0	C	NM_004199		131543412	131543412	-1	no_errors	ENST00000166534	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	T
P4HA2	8974	genome.wustl.edu	37	5	131543475	131543475	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:131543475G>T	ENST00000401867.1	-	9	1574	c.1006C>A	c.(1006-1008)Ccg>Acg	p.P336T	P4HA2_ENST00000166534.4_Missense_Mutation_p.P336T|P4HA2_ENST00000379086.1_Missense_Mutation_p.P336T|P4HA2_ENST00000379100.2_Missense_Mutation_p.P336T|P4HA2_ENST00000360568.3_Missense_Mutation_p.P336T|P4HA2_ENST00000379104.2_Missense_Mutation_p.P336T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	336					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACGATGTGCGGGCTGTCCCAC	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	dbGAP											0													213.0	185.0	195.0					5																	131543475		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1006C>A	5.37:g.131543475G>T	ENSP00000384999:p.Pro336Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P336T	ENST00000401867.1	37	c.1006	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.368829	0.95900	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.76316	-1.01;-0.96;-1.01;-0.96;-1.01;-0.96	5.87	5.87	0.94306	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92364	0.7577	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.978;0.996	D	0.93496	0.6840	10	0.87932	D	0	-18.9867	20.5827	0.99408	0.0:0.0:1.0:0.0	.	336;336	O15460;O15460-2	P4HA2_HUMAN;.	T	336	ENSP00000384999:P336T;ENSP00000368379:P336T;ENSP00000166534:P336T;ENSP00000353772:P336T;ENSP00000368398:P336T;ENSP00000368394:P336T	ENSP00000166534:P336T	P	-	1	0	P4HA2	131571374	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CCG	P4HA2	-	smart_Pro_4_hyd_alph	ENSG00000072682		0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	58	0.00	0	G	NM_004199		131543475	131543475	-1	no_errors	ENST00000166534	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	T
PABPC3	5042	genome.wustl.edu	37	13	25671803	25671804	+	In_Frame_Ins	INS	-	-	GCT	rs150143049		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:25671803_25671804insGCT	ENST00000281589.3	+	1	1504_1505	c.1467_1468insGCT	c.(1468-1470)gct>GCTgct	p.490_490A>AA		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	490					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CACGTCctgcagctgctgctgc	0.535																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1480_1482dupGCT	13.37:g.25671810_25671812dupGCT	ENSP00000281589:p.Ala496dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHV0|Q9H086	In_Frame_Ins	INS	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.493in_frame_insA	ENST00000281589.3	37	c.1467_1468	CCDS9311.1	13																																																																																			PABPC3	-	superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000151846		0.535	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	110	0.00	0	-	NM_030979		25671803	25671804	+1	no_errors	ENST00000281589	ensembl	human	known	69_37n	in_frame_ins	120	10.45	14	INS	0.985:0.993	GCT
PAPPA2	60676	genome.wustl.edu	37	1	176564696	176564696	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:176564696G>A	ENST00000367662.3	+	3	3120	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	PAPPA2_ENST00000367661.3_Silent_p.V652V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	652	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGCTGATGTGCGCAAGACCT	0.522																																						dbGAP											0													51.0	55.0	54.0					1																	176564696		2167	4265	6432	-	-	-	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1956G>A	1.37:g.176564696G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.V652	ENST00000367662.3	37	c.1956	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	94	0.00	0	G			176564696	176564696	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	silent	142	15.48	26	SNP	0.027	A
PARD3	56288	genome.wustl.edu	37	10	34739262	34739262	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:34739262G>A	ENST00000374789.3	-	5	1022	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	PARD3_ENST00000340077.5_Silent_p.L233L|PARD3_ENST00000374788.3_Silent_p.L233L|PARD3_ENST00000374776.1_Silent_p.L233L|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000350537.4_Silent_p.L233L|PARD3_ENST00000545693.1_Silent_p.L233L|PARD3_ENST00000374773.1_Silent_p.L233L|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000346874.4_Silent_p.L233L|PARD3_ENST00000545260.1_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	233				L -> Q (in Ref. 8; BAB55330). {ECO:0000305}.	apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTTTCTCCAGCCACTTGCCC	0.483																																						dbGAP											0													124.0	113.0	117.0					10																	34739262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.697C>T	10.37:g.34739262G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L233	ENST00000374789.3	37	c.697	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.483	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	120	0.00	0	G	NM_019619		34739262	34739262	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	silent	96	19.33	23	SNP	1.000	A
PARP2	10038	genome.wustl.edu	37	14	20820718	20820718	+	Intron	DEL	T	T	-	rs33928369		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:20820718delT	ENST00000250416.5	+	7	666				PARP2_ENST00000555140.1_3'UTR|PARP2_ENST00000429687.3_Intron|PARP2_ENST00000527915.1_Intron	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2						base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		attttttttcttttttttttg	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.639+212T>-	14.37:g.20820718delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	RNA	DEL	-	NULL	ENST00000250416.5	37	NULL	CCDS41910.1	14																																																																																			PARP2	-	-	ENSG00000129484		0.502	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	21	0.00	0	T			20820718	20820718	+1	no_errors	ENST00000555140	ensembl	human	putative	69_37n	rna	23	25.81	8	DEL	0.013	-
PARVG	64098	genome.wustl.edu	37	22	44592032	44592032	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:44592032C>T	ENST00000444313.3	+	10	1067				PARVG_ENST00000422871.1_Intron|PARVG_ENST00000415224.1_Intron	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma						actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCTGTGTCTGCAGAGGACGTC	0.428																																						dbGAP											0													129.0	128.0	128.0					22																	44592032		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.584-3C>T	22.37:g.44592032C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	RNA	SNP	-	NULL	ENST00000444313.3	37	NULL	CCDS14057.1	22																																																																																			PARVG	-	-	ENSG00000138964		0.428	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	HGNC	protein_coding	OTTHUMT00000318238.4	48	0.00	0	C	NM_022141		44592032	44592032	+1	no_errors	ENST00000472551	ensembl	human	known	69_37n	rna	24	36.84	14	SNP	1.000	T
PAX3	5077	genome.wustl.edu	37	2	223158894	223158894	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:223158894C>T	ENST00000350526.4	-	4	714	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PAX3_ENST00000258387.5_Missense_Mutation_p.S193N|PAX3_ENST00000344493.4_Missense_Mutation_p.S193N|PAX3_ENST00000409551.3_Missense_Mutation_p.S192N|PAX3_ENST00000392070.2_Missense_Mutation_p.S193N|PAX3_ENST00000409828.3_Missense_Mutation_p.S193N|PAX3_ENST00000336840.6_Missense_Mutation_p.S193N|PAX3_ENST00000392069.2_Missense_Mutation_p.S193N	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	193					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCGCTCGCTCAGGATGCC	0.597			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													249.0	180.0	204.0					2																	223158894		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.578G>A	2.37:g.223158894C>T	ENSP00000343052:p.Ser193Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.S193N	ENST00000350526.4	37	c.578	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589935	0.66105	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99409	-3.43;-3.47;-3.42;-3.41;-3.46;-3.42;-5.84;-5.85	4.82	4.82	0.62117	.	0.327127	0.36972	N	0.002320	D	0.97766	0.9267	N	0.22421	0.69	0.39231	D	0.963684	B;B;B;B;B;B;B	0.31730	0.061;0.337;0.065;0.039;0.066;0.101;0.066	B;B;B;B;B;B;B	0.31614	0.039;0.133;0.035;0.014;0.032;0.085;0.05	D	0.99120	1.0849	10	0.87932	D	0	.	17.5086	0.87754	0.0:1.0:0.0:0.0	.	193;193;193;192;193;193;193	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	N	193;193;193;193;193;192;193;193	ENSP00000375921:S193N;ENSP00000342092:S193N;ENSP00000343052:S193N;ENSP00000375922:S193N;ENSP00000338767:S193N;ENSP00000386750:S192N;ENSP00000386817:S193N;ENSP00000258387:S193N	ENSP00000258387:S193N	S	-	2	0	PAX3	222867138	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.477000	0.81069	2.201000	0.70794	0.555000	0.69702	AGC	PAX3	-	NULL	ENSG00000135903		0.597	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	143	0.00	0	C			223158894	223158894	-1	no_errors	ENST00000392069	ensembl	human	known	69_37n	missense	89	20.54	23	SNP	1.000	T
PAX3	5077	genome.wustl.edu	37	2	223160256	223160256	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:223160256C>T	ENST00000350526.4	-	3	578	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	PAX3_ENST00000258387.5_Missense_Mutation_p.V148M|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000344493.4_Missense_Mutation_p.V148M|PAX3_ENST00000409551.3_Missense_Mutation_p.V147M|PAX3_ENST00000392070.2_Missense_Mutation_p.V148M|PAX3_ENST00000409828.3_Missense_Mutation_p.V148M|PAX3_ENST00000336840.6_Missense_Mutation_p.V148M|PAX3_ENST00000392069.2_Missense_Mutation_p.V148M	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	148	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V148M(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGACGGCACGGTGTTTCGA	0.527			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	large_intestine(1)											136.0	123.0	127.0					2																	223160256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.442G>A	2.37:g.223160256C>T	ENSP00000343052:p.Val148Met	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.V148M	ENST00000350526.4	37	c.442	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996396	0.93167	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99470	-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96;-5.96	5.57	5.57	0.84162	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.110346	0.64402	D	0.000011	D	0.99597	0.9854	M	0.90309	3.105	0.58432	D	0.999998	D;D;D;D;D;D;D	0.76494	0.996;0.998;0.99;0.999;0.989;0.996;0.999	P;D;P;D;P;P;D	0.66716	0.754;0.916;0.678;0.946;0.479;0.868;0.911	D	0.98223	1.0479	10	0.87932	D	0	.	19.1612	0.93533	0.0:1.0:0.0:0.0	.	148;148;148;147;148;148;148	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	M	148;148;148;148;148;147;148;148	ENSP00000375921:V148M;ENSP00000342092:V148M;ENSP00000343052:V148M;ENSP00000375922:V148M;ENSP00000338767:V148M;ENSP00000386750:V147M;ENSP00000386817:V148M;ENSP00000258387:V148M	ENSP00000258387:V148M	V	-	1	0	PAX3	222868500	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.818000	0.86416	2.607000	0.88179	0.655000	0.94253	GTG	PAX3	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom	ENSG00000135903		0.527	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	37	0.00	0	C			223160256	223160256	-1	no_errors	ENST00000392069	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	T
PAX9	5083	genome.wustl.edu	37	14	37145652	37145652	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:37145652C>G	ENST00000361487.6	+	4	1246	c.1021C>G	c.(1021-1023)Ctc>Gtc	p.L341V	PAX9_ENST00000402703.2_Missense_Mutation_p.L341V			P55771	PAX9_HUMAN	paired box 9	341					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGCTTCCGCGCTCTGATGGGA	0.592																																						dbGAP											0													54.0	46.0	49.0					14																	37145652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.1021C>G	14.37:g.37145652C>G	ENSP00000355245:p.Leu341Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99582|Q9UQR4	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.L341V	ENST00000361487.6	37	c.1021	CCDS9662.1	14	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498256	0.64186	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.99098	-5.42;-5.42	6.16	6.16	0.99307	.	.	.	.	.	D	0.98909	0.9630	L	0.45581	1.43	0.53688	D	0.999977	D	0.63880	0.993	D	0.67548	0.952	D	0.99900	1.1160	9	0.87932	D	0	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	341	P55771	PAX9_HUMAN	V	341	ENSP00000384817:L341V;ENSP00000355245:L341V	ENSP00000355245:L341V	L	+	1	0	PAX9	36215403	1.000000	0.71417	0.989000	0.46669	0.684000	0.39900	6.798000	0.75155	2.937000	0.99478	0.650000	0.86243	CTC	PAX9	-	NULL	ENSG00000198807		0.592	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	HGNC	protein_coding	OTTHUMT00000276733.2	71	0.00	0	C			37145652	37145652	+1	no_errors	ENST00000361487	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	G
PBX1	5087	genome.wustl.edu	37	1	164816108	164816108	+	3'UTR	DEL	T	T	-	rs14832|rs554904027	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:164816108delT	ENST00000420696.2	+	0	1676				PBX1_ENST00000540236.1_Intron|PBX1_ENST00000560641.1_3'UTR|PBX1_ENST00000367897.1_3'UTR|PBX1_ENST00000540246.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTCTCTTCCCTTTTTTTTCTG	0.502			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0	5008	,	,		17699	0.002		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.*195T>-	1.37:g.164816108delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC1|F5H4U9|Q5T488	RNA	DEL	-	NULL	ENST00000420696.2	37	NULL	CCDS1246.1	1																																																																																			PBX1	-	-	ENSG00000185630		0.502	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	86	0.00	0	T	NM_002585		164816108	164816108	+1	no_errors	ENST00000465089	ensembl	human	known	69_37n	rna	80	11.96	11	DEL	0.525	-
PCDH10	57575	genome.wustl.edu	37	4	134072187	134072187	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:134072187C>T	ENST00000264360.5	+	1	1718	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCCGGGCGCGGGAGCTTTT	0.622																																						dbGAP											0													41.0	45.0	44.0					4																	134072187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.892C>T	4.37:g.134072187C>T	ENSP00000264360:p.Arg298Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R298W	ENST00000264360.5	37	c.892	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996499	0.35226	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53206	0.63	4.33	1.5	0.22942	Cadherin (4);Cadherin-like (1);	0.000000	0.41500	D	0.000872	T	0.60314	0.2259	M	0.62154	1.92	0.48341	D	0.999632	D;D	0.76494	0.999;0.999	D;D	0.70487	0.94;0.969	T	0.58940	-0.7547	10	0.87932	D	0	.	9.6235	0.39737	0.2839:0.579:0.1371:0.0	.	298;298	Q9P2E7;Q96SF0	PCD10_HUMAN;.	W	298	ENSP00000264360:R298W	ENSP00000264360:R298W	R	+	1	2	PCDH10	134291637	0.988000	0.35896	0.288000	0.24862	0.469000	0.32828	2.305000	0.43664	0.059000	0.16252	-0.416000	0.06073	CGG	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	47	0.00	0	C	NM_032961		134072187	134072187	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.951	T
PCDH10	57575	genome.wustl.edu	37	4	134073238	134073238	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:134073238G>A	ENST00000264360.5	+	1	2769	c.1943G>A	c.(1942-1944)cGc>cAc	p.R648H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	648	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGGCCAAGCGCGACCCCCAG	0.662																																						dbGAP											0													23.0	27.0	26.0					4																	134073238		2185	4275	6460	-	-	-	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1943G>A	4.37:g.134073238G>A	ENSP00000264360:p.Arg648His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R648H	ENST00000264360.5	37	c.1943	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340227	0.60963	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.60040	0.22	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000458	T	0.71846	0.3388	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.93	T	0.75399	-0.3331	10	0.66056	D	0.02	.	16.5313	0.84361	0.0:0.0:1.0:0.0	.	648;648	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	648	ENSP00000264360:R648H	ENSP00000264360:R648H	R	+	2	0	PCDH10	134292688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.867000	0.69597	2.207000	0.71202	0.655000	0.94253	CGC	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.662	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	18	0.00	0	G	NM_032961		134073238	134073238	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58299309	58299309	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:58299309C>A	ENST00000377918.3	+	4	3387	c.3361C>A	c.(3361-3363)Ctt>Att	p.L1121I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1121					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTTGAGCAGCTTGACCACCC	0.542																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													172.0	177.0	175.0					13																	58299309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3361C>A	13.37:g.58299309C>A	ENSP00000367151:p.Leu1121Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1121I	ENST00000377918.3	37	c.3361	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	9.642	1.139269	0.21205	.	.	ENSG00000118946	ENST00000377918	T	0.53640	0.61	6.07	2.99	0.34606	.	0.302554	0.30959	N	0.008523	T	0.31979	0.0814	L	0.40543	1.245	0.26668	N	0.971789	B	0.02656	0.0	B	0.01281	0.0	T	0.12708	-1.0537	9	.	.	.	.	4.6613	0.12643	0.1548:0.5323:0.0:0.3129	.	1121	O14917	PCD17_HUMAN	I	1121	ENSP00000367151:L1121I	.	L	+	1	0	PCDH17	57197310	1.000000	0.71417	0.839000	0.33178	0.998000	0.95712	1.441000	0.35035	0.859000	0.35456	0.655000	0.94253	CTT	PCDH17	-	NULL	ENSG00000118946		0.542	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	218	0.00	0	C	NM_001040429		58299309	58299309	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	missense	175	15.87	33	SNP	0.747	A
PCDHA11	56138	genome.wustl.edu	37	5	140250430	140250430	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140250430C>A	ENST00000398640.2	+	1	1742	c.1742C>A	c.(1741-1743)cCg>cAg	p.P581Q	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	581	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTAGTACCGCGGTCGGTG	0.657																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1742C>A	5.37:g.140250430C>A	ENSP00000381636:p.Pro581Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P581Q	ENST00000398640.2	37	c.1742	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	3.002	-0.205891	0.06180	.	.	ENSG00000249158	ENST00000398640	T	0.41400	1.0	4.78	3.91	0.45181	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.44808	0.1311	M	0.74647	2.275	0.09310	N	1	B;B	0.33198	0.401;0.133	B;B	0.35931	0.194;0.214	T	0.45673	-0.9245	9	0.87932	D	0	.	8.2383	0.31640	0.1783:0.6493:0.1724:0.0	.	581;581	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Q	581	ENSP00000381636:P581Q	ENSP00000381636:P581Q	P	+	2	0	PCDHA11	140230614	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	1.193000	0.32162	1.000000	0.39049	0.556000	0.70494	CCG	PCDHA11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000249158		0.657	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	33	0.00	0	C	NM_018902		140250430	140250430	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.004	A
PCDHA3	56145	genome.wustl.edu	37	5	140181371	140181371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140181371delA	ENST00000522353.2	+	1	589	c.589delA	c.(589-591)aaafs	p.K198fs	PCDHA3_ENST00000532566.2_Frame_Shift_Del_p.K198fs|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCGTGTTGAAAAAAAATTT	0.358																																						dbGAP											0													58.0	60.0	59.0					5																	140181371		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.589delA	5.37:g.140181371delA	ENSP00000429808:p.Lys198fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75286	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N199fs	ENST00000522353.2	37	c.589	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.358	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	80	0.00	0	A	NM_018906		140181371	140181371	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	frame_shift_del	44	32.84	22	DEL	0.987	-
PCDHA7	56141	genome.wustl.edu	37	5	140215411	140215411	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140215411C>T	ENST00000525929.1	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.D481D|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGGGGGACGCGGACGCGC	0.672																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													42.0	47.0	45.0					5																	140215411		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1443C>T	5.37:g.140215411C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D481	ENST00000525929.1	37	c.1443	CCDS54918.1	5																																																																																			PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.672	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	29	0.00	0	C	NM_018910		140215411	140215411	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	silent	7	56.25	9	SNP	0.163	T
PCDHA11	56138	genome.wustl.edu	37	5	140250672	140250672	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140250672G>A	ENST00000398640.2	+	1	1984	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGCCACGGCCACCGTGCT	0.672																																						dbGAP											0													31.0	36.0	34.0					5																	140250672		2198	4295	6493	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1984G>A	5.37:g.140250672G>A	ENSP00000381636:p.Ala662Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A662T	ENST00000398640.2	37	c.1984	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597640	0.46318	.	.	ENSG00000249158	ENST00000398640	T	0.50548	0.74	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.55194	0.1905	L	0.60455	1.87	0.34016	D	0.652108	P;P	0.50156	0.634;0.932	B;P	0.53102	0.359;0.718	T	0.69409	-0.5153	9	0.72032	D	0.01	.	10.716	0.46013	0.0886:0.0:0.9114:0.0	.	662;662	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	662	ENSP00000381636:A662T	ENSP00000381636:A662T	A	+	1	0	PCDHA11	140230856	0.922000	0.31269	0.878000	0.34440	0.067000	0.16453	5.129000	0.64739	2.105000	0.64084	0.561000	0.74099	GCC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	23	0.00	0	G	NM_018902		140250672	140250672	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.998	A
PCDHGB6	56100	genome.wustl.edu	37	5	140788732	140788732	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140788732G>A	ENST00000520790.1	+	1	963	c.963G>A	c.(961-963)gcG>gcA	p.A321A	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGAAGCGAAGGACGGAG	0.388																																						dbGAP											0													102.0	105.0	104.0					5																	140788732		1917	4128	6045	-	-	-	SO:0001819	synonymous_variant	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.963G>A	5.37:g.140788732G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A321	ENST00000520790.1	37	c.963	CCDS54929.1	5																																																																																			PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.388	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	87	0.00	0	G	NM_018926		140788732	140788732	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	0.080	A
PCDHGB6	56100	genome.wustl.edu	37	5	140789346	140789346	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140789346G>A	ENST00000520790.1	+	1	1577	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGCTGCGCGCCTTCGCG	0.682																																						dbGAP											0													18.0	22.0	21.0					5																	140789346		2019	4172	6191	-	-	-	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1577G>A	5.37:g.140789346G>A	ENSP00000428603:p.Arg526His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R526H	ENST00000520790.1	37	c.1577	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	17.82	3.483382	0.63962	.	.	ENSG00000253305	ENST00000520790	T	0.01767	4.65	5.36	5.36	0.76844	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10294	0.0252	M	0.75085	2.285	0.25757	N	0.984985	D;D	0.69078	0.997;0.972	D;P	0.62955	0.909;0.642	T	0.01195	-1.1422	9	0.66056	D	0.02	.	18.7028	0.91627	0.0:0.0:1.0:0.0	.	526;526	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	526	ENSP00000428603:R526H	ENSP00000428603:R526H	R	+	2	0	PCDHGB6	140769530	0.003000	0.15002	1.000000	0.80357	0.568000	0.35870	1.203000	0.32284	2.517000	0.84864	0.462000	0.41574	CGC	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.682	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	20	0.00	0	G	NM_018926		140789346	140789346	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.999	A
PCDHGA10	56106	genome.wustl.edu	37	5	140793453	140793453	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:140793453C>T	ENST00000398610.2	+	1	711	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	237	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F237F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGTCTTCGATGCAAATG	0.572																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											45.0	48.0	47.0					5																	140793453		2063	4207	6270	-	-	-	SO:0001819	synonymous_variant	0				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.711C>T	5.37:g.140793453C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F237	ENST00000398610.2	37	c.711	CCDS47292.1	5																																																																																			PCDHGA10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253846		0.572	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	HGNC	protein_coding	OTTHUMT00000374747.1	30	0.00	0	C	NM_018913		140793453	140793453	+1	no_errors	ENST00000398610	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.038	T
PCF11	51585	genome.wustl.edu	37	11	82880099	82880099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:82880099C>T	ENST00000298281.4	+	8	3174	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	908	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGATAATCCCCGAGGTCAGCC	0.537																																						dbGAP											0													51.0	52.0	51.0					11																	82880099		1948	4125	6073	-	-	-	SO:0001587	stop_gained	0			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2722C>T	11.37:g.82880099C>T	ENSP00000298281:p.Arg908*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.R908*	ENST00000298281.4	37	c.2722	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	41	9.155325	0.99084	.	.	ENSG00000165494	ENST00000298281	.	.	.	6.07	5.16	0.70880	.	0.286938	0.25275	N	0.031847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.5667	12.9913	0.58620	0.1289:0.7472:0.1239:0.0	.	.	.	.	X	908	.	.	R	+	1	2	PCF11	82557747	0.903000	0.30736	0.935000	0.37517	0.997000	0.91878	2.536000	0.45693	1.546000	0.49388	0.655000	0.94253	CGA	PCF11	-	NULL	ENSG00000165494		0.537	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	76	0.00	0	C	NM_015885		82880099	82880099	+1	no_errors	ENST00000298281	ensembl	human	known	69_37n	nonsense	69	36.70	40	SNP	0.980	T
PCNX	22990	genome.wustl.edu	37	14	71568810	71568810	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:71568810C>T	ENST00000304743.2	+	31	6139	c.5693C>T	c.(5692-5694)gCa>gTa	p.A1898V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A1787V|PCNX_ENST00000238570.5_Missense_Mutation_p.A1826V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1898						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGGACCCTGCATGGCGGAGT	0.463																																						dbGAP											0													110.0	109.0	109.0					14																	71568810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5693C>T	14.37:g.71568810C>T	ENSP00000304192:p.Ala1898Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.A1898V	ENST00000304743.2	37	c.5693	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.469572|4.469572	0.84533|0.84533	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70762|0.70762	0.3261|0.3261	L|L	0.50919|0.50919	1.6|1.6	0.44956|0.44956	D|D	0.997972|0.997972	D;P;P|.	0.71674|.	0.998;0.877;0.909|.	D;P;P|.	0.80764|.	0.994;0.53;0.902|.	T|T	0.66508|0.66508	-0.5906|-0.5906	10|5	0.38643|.	T|.	0.18|.	.|.	19.5331|19.5331	0.95237|0.95237	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1826;1787;1898|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|Y	1898;1826;1787|885	ENSP00000304192:A1898V;ENSP00000238570:A1826V;ENSP00000396617:A1787V|.	ENSP00000238570:A1826V|.	A|H	+|+	2|1	0|0	PCNX|PCNX	70638563|70638563	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.870000|0.870000	0.49936|0.49936	5.721000|5.721000	0.68477|0.68477	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GCA|CAT	PCNX	-	pfam_Pecanex	ENSG00000100731		0.463	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	222	0.45	1	C	NM_014982		71568810	71568810	+1	no_errors	ENST00000304743	ensembl	human	known	69_37n	missense	135	21.05	36	SNP	1.000	T
PCNXL2	80003	genome.wustl.edu	37	1	233394715	233394715	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:233394715C>T	ENST00000258229.9	-	5	1127	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	298						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTTTGTACCCGTTCCCTTAT	0.552																																						dbGAP											0													70.0	72.0	71.0					1																	233394715		2021	4179	6200	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.893G>A	1.37:g.233394715C>T	ENSP00000258229:p.Arg298Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.R298Q	ENST00000258229.9	37	c.893	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	0.562	-0.844852	0.02671	.	.	ENSG00000135749	ENST00000258229	T	0.62364	0.03	4.34	0.294	0.15747	.	.	.	.	.	T	0.27241	0.0668	N	0.01576	-0.805	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	9	0.06757	T	0.87	.	8.4137	0.32659	0.0:0.3584:0.0:0.6416	.	298	A6NKB5	PCX2_HUMAN	Q	298	ENSP00000258229:R298Q	ENSP00000258229:R298Q	R	-	2	0	PCNXL2	231461338	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.634000	0.05477	-0.001000	0.14495	-0.474000	0.04947	CGG	PCNXL2	-	NULL	ENSG00000135749		0.552	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	96	0.00	0	C	NM_014801		233394715	233394715	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	75	29.25	31	SNP	0.001	T
PCTP	58488	genome.wustl.edu	37	17	53851231	53851231	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:53851231G>T	ENST00000268896.5	+	4	611	c.486G>T	c.(484-486)gaG>gaT	p.E162D	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Missense_Mutation_p.E162D|PCTP_ENST00000576183.1_Missense_Mutation_p.E162D|PCTP_ENST00000325214.6_Missense_Mutation_p.E90D	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	162	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TGGCGATCGAGAGTGACGGCA	0.622																																						dbGAP											0													62.0	50.0	54.0					17																	53851231		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.486G>T	17.37:g.53851231G>T	ENSP00000268896:p.Glu162Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.E162D	ENST00000268896.5	37	c.486	CCDS11588.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349086	0.82132	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T	0.79845	-1.31	5.93	2.63	0.31362	Lipid-binding START (3);START-like domain (1);	0.503541	0.22567	N	0.058397	T	0.77831	0.4189	M	0.73962	2.25	0.49915	D	0.999837	B	0.30146	0.27	B	0.34536	0.185	T	0.75838	-0.3176	10	0.72032	D	0.01	-1.0817	5.6781	0.17759	0.3579:0.0:0.6421:0.0	.	162	Q9UKL6	PPCT_HUMAN	D	162;90;141	ENSP00000268896:E162D	ENSP00000268896:E162D	E	+	3	2	PCTP	51206230	1.000000	0.71417	0.761000	0.31378	0.980000	0.70556	1.888000	0.39708	0.875000	0.35847	0.655000	0.94253	GAG	PCTP	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000141179		0.622	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCTP	HGNC	protein_coding	OTTHUMT00000439271.2	34	0.00	0	G	NM_021213		53851231	53851231	+1	no_errors	ENST00000268896	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.978	T
PDE11A	50940	genome.wustl.edu	37	2	178936814	178936814	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:178936814A>G	ENST00000286063.6	-	1	668	c.351T>C	c.(349-351)tcT>tcC	p.S117S	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	117					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GCTCTTTCTGAGAAGCTCTCC	0.632									Primary Pigmented Nodular Adrenocortical Disease, Familial																													dbGAP											0													65.0	70.0	68.0					2																	178936814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.351T>C	2.37:g.178936814A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S117	ENST00000286063.6	37	c.351	CCDS33334.1	2																																																																																			PDE11A	-	NULL	ENSG00000128655		0.632	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	74	0.00	0	A			178936814	178936814	-1	no_errors	ENST00000286063	ensembl	human	known	69_37n	silent	81	10.99	10	SNP	0.990	G
PDGFRB	5159	genome.wustl.edu	37	5	149501507	149501507	+	Silent	SNP	G	G	A	rs200377656	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:149501507G>A	ENST00000261799.4	-	16	2749	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	760	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATATTTGACGTCTCCTTTCA	0.537			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								G|||	2	0.000399361	0.0008	0.0	5008	,	,		22401	0.0		0.001	False		,,,				2504	0.0					dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													343.0	257.0	286.0					5																	149501507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2280C>T	5.37:g.149501507G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A957|Q8N5L4	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D760	ENST00000261799.4	37	c.2280	CCDS4303.1	5																																																																																			PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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	ENSG00000113721		0.537	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	50	0.00	0	G	NM_002609		149501507	149501507	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.480	A
PDLIM1	9124	genome.wustl.edu	37	10	97028544	97028544	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:97028544A>G	ENST00000329399.6	-	3	432	c.324T>C	c.(322-324)tcT>tcC	p.S108S	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	108					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCTGGGGTTCAGAGGCTAAAT	0.498																																						dbGAP											0													208.0	158.0	175.0					10																	97028544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.324T>C	10.37:g.97028544A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S108	ENST00000329399.6	37	c.324	CCDS7441.1	10																																																																																			PDLIM1	-	NULL	ENSG00000107438		0.498	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1	124	0.00	0	A			97028544	97028544	-1	no_errors	ENST00000329399	ensembl	human	known	69_37n	silent	69	17.86	15	SNP	0.890	G
PDSS2	57107	genome.wustl.edu	37	6	107595417	107595417	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:107595417G>A	ENST00000369037.4	-	3	723	c.446C>T	c.(445-447)gCa>gTa	p.A149V	PDSS2_ENST00000453874.2_Missense_Mutation_p.A149V|PDSS2_ENST00000369031.4_Missense_Mutation_p.A149V	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	149					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CGTGATCTCTGCCAAACTTCT	0.328																																						dbGAP											0													54.0	52.0	53.0					6																	107595417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.446C>T	6.37:g.107595417G>A	ENSP00000358033:p.Ala149Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.A149V	ENST00000369037.4	37	c.446	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969444	0.92855	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.74526	-0.85;-0.85;-0.85	5.55	5.55	0.83447	Terpenoid synthase (2);	0.103029	0.64402	D	0.000003	D	0.89371	0.6696	M	0.93328	3.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	D	0.91528	0.5240	10	0.87932	D	0	.	19.5053	0.95113	0.0:0.0:1.0:0.0	.	149;149;149;149	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	V	149	ENSP00000358033:A149V;ENSP00000399691:A149V;ENSP00000358027:A149V	ENSP00000358027:A149V	A	-	2	0	PDSS2	107702110	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.407000	0.97325	2.616000	0.88540	0.585000	0.79938	GCA	PDSS2	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000164494		0.328	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	74	0.00	0	G	NM_020381		107595417	107595417	-1	no_errors	ENST00000369037	ensembl	human	known	69_37n	missense	69	39.47	45	SNP	1.000	A
PEAR1	375033	genome.wustl.edu	37	1	156877506	156877507	+	Frame_Shift_Ins	INS	-	-	C	rs76737129|rs77456537		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:156877506_156877507insC	ENST00000338302.3	+	8	974_975	c.749_750insC	c.(748-753)tgccccfs	p.CP250fs	PEAR1_ENST00000292357.7_Frame_Shift_Ins_p.CP250fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	250	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGCAGCTGCCCCCCTGGCT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.755dupC	1.37:g.156877512_156877512dupC	ENSP00000344465:p.Cys250fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEK2	Frame_Shift_Ins	INS	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G253fs	ENST00000338302.3	37	c.749_750	CCDS30892.1	1																																																																																			PEAR1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000187800		0.614	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	143	0.69	1	-	NM_001080471		156877506	156877507	+1	no_errors	ENST00000292357	ensembl	human	known	69_37n	frame_shift_ins	70	37.50	42	INS	1.000:1.000	C
PEX3	8504	genome.wustl.edu	37	6	143789300	143789300	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:143789300T>C	ENST00000367591.4	+	4	392	c.329T>C	c.(328-330)aTa>aCa	p.I110T		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	110					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CTGAAGATAATAAGTAAGCCT	0.299																																						dbGAP											0													43.0	46.0	45.0					6																	143789300		2201	4291	6492	-	-	-	SO:0001583	missense	0			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.329T>C	6.37:g.143789300T>C	ENSP00000356563:p.Ile110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGP5	Missense_Mutation	SNP	pfam_Peroxin-3	p.I110T	ENST00000367591.4	37	c.329	CCDS5199.1	6	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014340	0.75161	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.39056	1.1;1.1	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.43923	1.385	0.80722	D	1	P;D	0.57257	0.531;0.979	P;P	0.52343	0.46;0.696	T	0.07558	-1.0766	10	0.13470	T	0.59	-25.6017	15.9415	0.79758	0.0:0.0:0.0:1.0	.	110;110	B4DV31;P56589	.;PEX3_HUMAN	T	66;66;110	ENSP00000356564:I66T;ENSP00000356563:I110T	ENSP00000344195:I66T	I	+	2	0	PEX3	143830993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.333000	0.79214	2.157000	0.67596	0.533000	0.62120	ATA	PEX3	-	pfam_Peroxin-3	ENSG00000034693		0.299	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX3	HGNC	protein_coding	OTTHUMT00000042525.1	63	0.00	0	T			143789300	143789300	+1	no_errors	ENST00000367591	ensembl	human	known	69_37n	missense	51	40.00	34	SNP	1.000	C
PF4V1	5197	genome.wustl.edu	37	4	74719801	74719801	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:74719801C>T	ENST00000226524.3	+	3	451	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	93					cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCAAGCCCTGCTGTACAAGAA	0.423																																						dbGAP											0													90.0	93.0	92.0					4																	74719801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.277C>T	4.37:g.74719801C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4S0	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.L93	ENST00000226524.3	37	c.277	CCDS3561.1	4																																																																																			PF4V1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	ENSG00000109272		0.423	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PF4V1	HGNC	protein_coding	OTTHUMT00000252495.1	56	0.00	0	C			74719801	74719801	+1	no_errors	ENST00000226524	ensembl	human	known	69_37n	silent	47	17.54	10	SNP	0.000	T
PFKP	5214	genome.wustl.edu	37	10	3175478	3175478	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:3175478G>T	ENST00000381125.4	+	19	2070	c.1994G>T	c.(1993-1995)aGg>aTg	p.R665M	PFKP_ENST00000381072.1_Missense_Mutation_p.R83M|PFKP_ENST00000381075.2_Missense_Mutation_p.R657M	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	665	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TTTGACTGCAGGAAGAACGTG	0.483																																						dbGAP											0													129.0	124.0	126.0					10																	3175478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1994G>T	10.37:g.3175478G>T	ENSP00000370517:p.Arg665Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS15|Q5VSR7|Q5VSR8	Nonsense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom	p.G18*	ENST00000381125.4	37	c.52	CCDS7059.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.87|19.87	3.907250|3.907250	0.72868|0.72868	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000433193|ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	.|D;D;D	.|0.82344	.|-1.6;-1.6;-1.6	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	.|0.043084	.|0.85682	.|D	.|0.000000	.|D	.|0.95468	.|0.8528	H|H	0.99238|0.99238	4.48|4.48	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.999	.|D	.|0.97623	.|1.0137	.|10	.|0.87932	.|D	.|0	.|.	18.9486|18.9486	0.92632|0.92632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|657;657;665	.|B3KS15;Q5VSR7;Q01813	.|.;.;K6PP_HUMAN	X|M	18|665;654;657;83	.|ENSP00000370517:R665M;ENSP00000370465:R657M;ENSP00000370462:R83M	.|ENSP00000370462:R83M	G|R	+|+	1|2	0|0	PFKP|PFKP	3165478|3165478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.376000|0.376000	0.30014|0.30014	9.436000|9.436000	0.97532|0.97532	2.479000|2.479000	0.83701|0.83701	0.655000|0.655000	0.94253|0.94253	GGA|AGG	PFKP	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom	ENSG00000067057		0.483	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1	96	0.00	0	G	NM_002627		3175478	3175478	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433193	ensembl	human	known	69_37n	nonsense	34	29.17	14	SNP	1.000	T
NTN4	59277	genome.wustl.edu	37	12	96059495	96059498	+	Intron	DEL	GTTT	GTTT	-	rs111546409		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GTTT	GTTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:96059495_96059498delGTTT	ENST00000343702.4	-	9	2199				PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Intron|NTN4_ENST00000538383.1_Intron|NTN4_ENST00000553059.1_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCTTGCTGAGTTTGTTTATGTTG	0.397																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1750+87AAAC>-	12.37:g.96059499_96059502delGTTT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	RNA	DEL	-	NULL	ENST00000343702.4	37	NULL	CCDS9054.1	12																																																																																			PGAM1P5	-	-	ENSG00000257150		0.397	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1P5	HGNC	protein_coding	OTTHUMT00000408372.1	55	0.00	0	GTTT	NM_021229		96059495	96059498	+1	no_errors	ENST00000552554	ensembl	human	known	69_37n	rna	55	14.06	9	DEL	0.013:0.010:0.034:0.000	-
PGAP1	80055	genome.wustl.edu	37	2	197738284	197738284	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:197738284A>T	ENST00000354764.4	-	16	1634	c.1520T>A	c.(1519-1521)aTc>aAc	p.I507N	PGAP1_ENST00000409475.1_Missense_Mutation_p.I507N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	507					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TACCACGTTGATTTTAAAAGC	0.269																																						dbGAP											0													42.0	42.0	42.0					2																	197738284		2196	4287	6483	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1520T>A	2.37:g.197738284A>T	ENSP00000346809:p.Ile507Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.I507N	ENST00000354764.4	37	c.1520	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444308	0.63178	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.0	5.0	0.66597	.	0.158604	0.53938	D	0.000047	T	0.44435	0.1293	L	0.29908	0.895	0.80722	D	1	P;P	0.47253	0.892;0.57	B;B	0.43251	0.413;0.394	T	0.50767	-0.8789	9	0.87932	D	0	-0.6731	13.3916	0.60827	1.0:0.0:0.0:0.0	.	507;507	Q75T13-3;Q75T13	.;PGAP1_HUMAN	N	287;507;507	.	ENSP00000346809:I507N	I	-	2	0	PGAP1	197446529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.452000	0.66638	2.235000	0.73313	0.533000	0.62120	ATC	PGAP1	-	NULL	ENSG00000197121		0.269	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	54	0.00	0	A	NM_024989		197738284	197738284	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	60	17.81	13	SNP	1.000	T
PHF20L1	51105	genome.wustl.edu	37	8	133826909	133826909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:133826909delA	ENST00000395386.2	+	10	1257	c.958delA	c.(958-960)aaafs	p.K321fs	PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.K296fs|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	321							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCAAAGTCAGAAAAAAAATGA	0.348																																						dbGAP											0													68.0	73.0	71.0					8																	133826909		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.958delA	8.37:g.133826909delA	ENSP00000378784:p.Lys321fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.N322fs	ENST00000395386.2	37	c.958	CCDS6367.2	8																																																																																			PHF20L1	-	NULL	ENSG00000129292		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	177	0.00	0	A	NM_016018		133826909	133826909	+1	no_errors	ENST00000315808	ensembl	human	known	69_37n	frame_shift_del	109	31.48	51	DEL	1.000	-
PHTF2	57157	genome.wustl.edu	37	7	77567268	77567268	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:77567268delA	ENST00000248550.7	+	12	1543				PHTF2_ENST00000307305.8_Intron|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000424760.1_Intron|PHTF2_ENST00000416283.2_Intron|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000422959.2_Intron			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTTCACCCTGAAAAAAAAGTT	0.299																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1467+113A>-	7.37:g.77567268delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	RNA	DEL	-	NULL	ENST00000248550.7	37	NULL		7																																																																																			PHTF2	-	-	ENSG00000006576		0.299	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	21	0.00	0	A	NM_020432		77567268	77567268	+1	no_errors	ENST00000454592	ensembl	human	known	69_37n	rna	13	44.00	11	DEL	0.000	-
PHYH	5264	genome.wustl.edu	37	10	13325835	13325835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:13325835delC	ENST00000263038.4	-	7	741	c.683delG	c.(682-684)ggafs	p.G228fs	PHYH_ENST00000396913.2_Frame_Shift_Del_p.G128fs|PHYH_ENST00000396920.3_Frame_Shift_Del_p.G211fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTGTTAACTCCCCCCTAGAA	0.463																																						dbGAP											0													229.0	238.0	235.0					10																	13325835		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.683delG	10.37:g.13325835delC	ENSP00000263038:p.Gly228fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTS8|B1ALH5	Frame_Shift_Del	DEL	pfam_Phytyl_CoA_dOase	p.G228fs	ENST00000263038.4	37	c.683	CCDS7097.1	10																																																																																			PHYH	-	pfam_Phytyl_CoA_dOase	ENSG00000107537		0.463	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	416	0.00	0	C			13325835	13325835	-1	no_errors	ENST00000263038	ensembl	human	known	69_37n	frame_shift_del	271	18.88	64	DEL	0.987	-
PIAS2	9063	genome.wustl.edu	37	18	44407973	44407973	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:44407973G>A	ENST00000585916.1	-	11	1456	c.1457C>T	c.(1456-1458)gCc>gTc	p.A486V	PIAS2_ENST00000545673.1_Missense_Mutation_p.A196V|PIAS2_ENST00000324794.7_Missense_Mutation_p.A486V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	486					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TTTCCTTTTGGCAGGAGGGTC	0.398																																						dbGAP											0													156.0	147.0	150.0					18																	44407973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1457C>T	18.37:g.44407973G>A	ENSP00000465676:p.Ala486Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.A486V	ENST00000585916.1	37	c.1457	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044251	0.55110	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.44881	0.91;1.47	5.49	4.62	0.57501	.	0.312458	0.35349	N	0.003269	T	0.39911	0.1096	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.27068	0.167;0.151;0.161;0.006	B;B;B;B	0.28385	0.064;0.089;0.079;0.007	T	0.26849	-1.0091	10	0.44086	T	0.13	-3.6069	14.4525	0.67394	0.0707:0.0:0.9292:0.0	.	196;486;486;486	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	486;486;196;486	ENSP00000443238:A196V;ENSP00000317163:A486V	ENSP00000262161:A486V	A	-	2	0	PIAS2	42661971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.016000	0.64041	1.454000	0.47793	0.655000	0.94253	GCC	PIAS2	-	NULL	ENSG00000078043		0.398	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	177	0.00	0	G	NM_004671		44407973	44407973	-1	no_errors	ENST00000585916	ensembl	human	known	69_37n	missense	111	31.48	51	SNP	1.000	A
PIK3C2A	5286	genome.wustl.edu	37	11	17111376	17111376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:17111376delA	ENST00000265970.7	-	32	4969	c.4970delT	c.(4969-4971)ttcfs	p.F1657fs	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Frame_Shift_Del_p.F1277fs	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1657	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TCCACCCAAGAAAAAATTCTC	0.413																																						dbGAP											0													169.0	182.0	178.0					11																	17111376		2200	4294	6494	-	-	-	SO:0001589	frameshift_variant	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4970delT	11.37:g.17111376delA	ENSP00000265970:p.Phe1657fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.F1657fs	ENST00000265970.7	37	c.4970	CCDS7824.1	11																																																																																			PIK3C2A	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000011405		0.413	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	299	0.00	0	A	NM_002645		17111376	17111376	-1	no_errors	ENST00000265970	ensembl	human	known	69_37n	frame_shift_del	330	14.58	57	DEL	1.000	-
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	58	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	36	40.98	25	SNP	1.000	A
PILRB	29990	genome.wustl.edu	37	7	99957093	99957093	+	Silent	SNP	C	C	T	rs371268553		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:99957093C>T	ENST00000452089.1	+	8	1647	c.588C>T	c.(586-588)gtC>gtT	p.V196V	PILRB_ENST00000609309.1_Silent_p.V196V|PILRB_ENST00000610247.1_Silent_p.V196V|PILRB_ENST00000444073.1_Silent_p.V196V|PILRB_ENST00000448382.1_Missense_Mutation_p.R249C|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	196					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.V196V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATTGGCTGTCGCTGTGCTCA	0.547																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											100.0	109.0	106.0					7																	99957093		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.588C>T	7.37:g.99957093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.R249C	ENST00000452089.1	37	c.745	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	C	5.077	0.199872	0.09652	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	2.32	-2.98	0.05513	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	6	.	.	.	.	6.1239	0.20167	0.0:0.4128:0.0:0.5872	.	127	Q9UKJ0-2	.	C	127;249	.	.	R	+	1	0	PILRB	99795029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.414000	0.00237	-0.557000	0.06126	-0.275000	0.10095	CGC	PILRB	-	NULL	ENSG00000121716		0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	81	0.00	0	C	NM_178238		99957093	99957093	+1	no_errors	ENST00000448382	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.000	T
PINK1	65018	genome.wustl.edu	37	1	20970985	20970985	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:20970985A>G	ENST00000321556.4	+	4	873	c.779A>G	c.(778-780)aAa>aGa	p.K260R	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGACTAGAAAATCCAAGAGA	0.542																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	dbGAP											0													113.0	110.0	111.0					1																	20970985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.779A>G	1.37:g.20970985A>G	ENSP00000364204:p.Lys260Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K260R	ENST00000321556.4	37	c.779	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	A	9.052	0.992214	0.18966	.	.	ENSG00000158828	ENST00000321556	T	0.73575	-0.76	5.32	-1.02	0.10135	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.470078	0.25759	N	0.028481	T	0.32615	0.0835	N	0.01109	-1.01	0.24460	N	0.994441	B	0.06786	0.001	B	0.06405	0.002	T	0.42498	-0.9448	10	0.05525	T	0.97	-2.5994	5.1784	0.15146	0.4485:0.1649:0.3866:0.0	.	260	Q9BXM7	PINK1_HUMAN	R	260	ENSP00000364204:K260R	ENSP00000364204:K260R	K	+	2	0	PINK1	20843572	0.039000	0.19947	0.743000	0.31040	0.955000	0.61496	0.055000	0.14229	-0.075000	0.12798	0.533000	0.62120	AAA	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000158828		0.542	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	127	0.00	0	A	NM_032409		20970985	20970985	+1	no_errors	ENST00000321556	ensembl	human	known	69_37n	missense	49	30.00	21	SNP	0.612	G
PKD1L1	168507	genome.wustl.edu	37	7	47955186	47955186	+	Frame_Shift_Del	DEL	A	A	-	rs544774439	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:47955186delA	ENST00000289672.2	-	8	1121	c.1071delT	c.(1069-1071)tttfs	p.F357fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	357					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						gtaaaagatgaaaaaaaatac	0.299													|||unknown(LONG_INSERTION)	8	0.00159744	0.0008	0.0	5008	,	,		16915	0.0		0.0	False		,,,				2504	0.0072					dbGAP											0													48.0	48.0	48.0					7																	47955186		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1071delT	7.37:g.47955186delA	ENSP00000289672:p.Phe357fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Frame_Shift_Del	DEL	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.H358fs	ENST00000289672.2	37	c.1071	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.299	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	136	0.00	0	A	NM_138295		47955186	47955186	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	frame_shift_del	108	15.50	20	DEL	0.006	-
PKD2	5311	genome.wustl.edu	37	4	88996056	88996056	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:88996056G>A	ENST00000508588.1	+	9	1264	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R290Q|PKD2_ENST00000237596.2_Missense_Mutation_p.R872Q			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTATGGAGCGAGCCAAACTG	0.557																																						dbGAP											0													183.0	144.0	157.0					4																	88996056		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.869G>A	4.37:g.88996056G>A	ENSP00000427131:p.Arg290Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1	p.R872Q	ENST00000508588.1	37	c.2615		4	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515391	0.64634	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92647	-0.44;-3.08;-3.08	5.13	3.34	0.38264	.	0.052136	0.85682	N	0.000000	D	0.89763	0.6809	M	0.75615	2.305	0.54753	D	0.999981	B	0.25312	0.123	B	0.12837	0.008	D	0.85181	0.1004	10	0.52906	T	0.07	-8.7661	9.3548	0.38159	0.2396:0.0:0.7604:0.0	.	872	Q13563	PKD2_HUMAN	Q	872;290;290	ENSP00000237596:R872Q;ENSP00000427131:R290Q;ENSP00000425289:R290Q	ENSP00000237596:R872Q	R	+	2	0	PKD2	89215080	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.473000	0.73572	0.508000	0.28173	-0.157000	0.13467	CGA	PKD2	-	NULL	ENSG00000118762		0.557	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	57	0.00	0	G	NM_000297		88996056	88996056	+1	no_errors	ENST00000237596	ensembl	human	known	69_37n	missense	52	22.39	15	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51777166	51777167	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:51777166_51777167insA	ENST00000371117.3	-	38	6604_6605	c.6329_6330insT	c.(6328-6330)ttgfs	p.L2110fs	PKHD1_ENST00000340994.4_Frame_Shift_Ins_p.L2110fs	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2110					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCAGTACCTCAAAGGTGACTT	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6330dupT	6.37:g.51777169_51777169dupA	ENSP00000360158:p.Leu2110fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Frame_Shift_Ins	INS	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2110fs	ENST00000371117.3	37	c.6330_6329	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.426	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	198	0.00	0	-	NM_138694		51777166	51777167	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	frame_shift_ins	177	14.08	29	INS	1.000:1.000	A
PLA1A	51365	genome.wustl.edu	37	3	119325652	119325652	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:119325652C>T	ENST00000273371.4	+	2	177	c.105C>T	c.(103-105)tgC>tgT	p.C35C	PLA1A_ENST00000494440.1_Silent_p.C19C|PLA1A_ENST00000495992.1_Silent_p.C35C|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	35					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCAAAGTGCGCTGACTTCC	0.488																																						dbGAP											0													92.0	92.0	92.0					3																	119325652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.105C>T	3.37:g.119325652C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Silent	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.C35	ENST00000273371.4	37	c.105	CCDS2991.1	3																																																																																			PLA1A	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000144837		0.488	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	HGNC	protein_coding	OTTHUMT00000355252.2	275	0.00	0	C			119325652	119325652	+1	no_errors	ENST00000273371	ensembl	human	known	69_37n	silent	270	19.16	64	SNP	0.998	T
PLAUR	5329	genome.wustl.edu	37	19	44153221	44153221	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:44153221C>T	ENST00000340093.3	-	7	1058	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	PLAUR_ENST00000221264.4_Missense_Mutation_p.A232T|PLAUR_ENST00000339082.3_Intron|PLAUR_ENST00000601723.1_Missense_Mutation_p.A228T	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	277	UPAR/Ly6 3.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGCTGAAGGCGTCACCCAGG	0.532																																						dbGAP											0													140.0	122.0	128.0					19																	44153221		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.829G>A	19.37:g.44153221C>T	ENSP00000339328:p.Ala277Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.A277T	ENST00000340093.3	37	c.829	CCDS12628.1	19	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853128	0.51270	.	.	ENSG00000011422	ENST00000340093;ENST00000221264	T;T	0.68765	-0.35;-0.35	4.08	0.323	0.15893	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	1.198080	0.06287	N	0.698480	T	0.55593	0.1930	M	0.68317	2.08	0.09310	N	0.999997	B;P	0.34934	0.366;0.476	B;B	0.19148	0.016;0.024	T	0.48080	-0.9066	10	0.52906	T	0.07	-9.9447	2.67	0.05064	0.2166:0.4915:0.0:0.2919	.	232;277	Q03405-3;Q03405	.;UPAR_HUMAN	T	277;232	ENSP00000339328:A277T;ENSP00000221264:A232T	ENSP00000221264:A232T	A	-	1	0	PLAUR	48845061	0.075000	0.21258	0.364000	0.25888	0.127000	0.20565	-0.252000	0.08806	0.137000	0.18759	0.305000	0.20034	GCC	PLAUR	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000011422		0.532	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAUR	HGNC	protein_coding	OTTHUMT00000463571.1	74	0.00	0	C	NM_002659		44153221	44153221	-1	no_errors	ENST00000340093	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.440	T
PLCB4	5332	genome.wustl.edu	37	20	9401999	9401999	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:9401999A>G	ENST00000378493.1	+	23	2189	c.2174A>G	c.(2173-2175)gAt>gGt	p.D725G	PLCB4_ENST00000378501.2_Missense_Mutation_p.D725G|PLCB4_ENST00000378473.3_Missense_Mutation_p.D737G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D725G|PLCB4_ENST00000334005.3_Missense_Mutation_p.D725G|PLCB4_ENST00000414679.2_Missense_Mutation_p.D737G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	725	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTAGAGGTGGATATGTATGGG	0.408																																						dbGAP											0													123.0	111.0	115.0					20																	9401999		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2174A>G	20.37:g.9401999A>G	ENSP00000367754:p.Asp725Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D725G	ENST00000378493.1	37	c.2174	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801654	0.90538	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.68	5.68	0.88126	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	L	0.50847	1.595	0.80722	D	1	D;P;D;D	0.89917	1.0;0.937;1.0;1.0	D;P;D;D	0.87578	0.995;0.704;0.998;0.998	T	0.80329	-0.1428	10	0.87932	D	0	.	15.9314	0.79663	1.0:0.0:0.0:0.0	.	737;572;725;725	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	G	725;737;725;725;725;573	ENSP00000334105:D725G;ENSP00000367734:D737G;ENSP00000278655:D725G;ENSP00000367754:D725G;ENSP00000367762:D725G;ENSP00000390616:D573G	ENSP00000278655:D725G	D	+	2	0	PLCB4	9349999	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.339000	0.96797	2.176000	0.68965	0.383000	0.25322	GAT	PLCB4	-	pirsf_PLC-beta,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000101333		0.408	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	82	0.00	0	A			9401999	9401999	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	1.000	G
PLCE1	51196	genome.wustl.edu	37	10	95791727	95791727	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:95791727T>C	ENST00000371380.3	+	1	1159	c.924T>C	c.(922-924)gaT>gaC	p.D308D	PLCE1_ENST00000260766.3_Silent_p.D308D			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	308					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAATTGTGATGATGTAGAAG	0.373																																						dbGAP											0													127.0	124.0	125.0					10																	95791727		1860	4085	5945	-	-	-	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.924T>C	10.37:g.95791727T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D308	ENST00000371380.3	37	c.924	CCDS41552.1	10																																																																																			PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	304	0.00	0	T	NM_016341		95791727	95791727	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	silent	227	14.34	38	SNP	1.000	C
PLCG2	5336	genome.wustl.edu	37	16	81990425	81990425	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:81990425T>C	ENST00000359376.3	+	32	3910	c.3696T>C	c.(3694-3696)gtT>gtC	p.V1232V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1232					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGCCCTGGTTAAAGAGTTCA	0.522																																						dbGAP											0													104.0	106.0	105.0					16																	81990425		1969	4153	6122	-	-	-	SO:0001819	synonymous_variant	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3696T>C	16.37:g.81990425T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V1232	ENST00000359376.3	37	c.3696	CCDS42204.1	16																																																																																			PLCG2	-	pirsf_PLC-gamma	ENSG00000197943		0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	112	0.00	0	T			81990425	81990425	+1	no_errors	ENST00000359376	ensembl	human	known	69_37n	silent	48	35.14	26	SNP	0.000	C
PLCZ1	89869	genome.wustl.edu	37	12	18841025	18841025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:18841025delT	ENST00000538330.1	-	9	1316	c.935delA	c.(934-936)aatfs	p.N312fs	PLCZ1_ENST00000539875.1_Frame_Shift_Del_p.N337fs|PLCZ1_ENST00000541695.1_Frame_Shift_Del_p.N393fs|PLCZ1_ENST00000534932.1_Frame_Shift_Del_p.N11fs|PLCZ1_ENST00000435379.1_Frame_Shift_Del_p.N335fs|PLCZ1_ENST00000266505.7_Frame_Shift_Del_p.N530fs|PLCZ1_ENST00000447925.2_Frame_Shift_Del_p.N528fs					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GAGCTCACCATTTTTTTTAAT	0.294																																						dbGAP											0													85.0	89.0	88.0					12																	18841025		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.935delA	12.37:g.18841025delT	ENSP00000445880:p.Asn312fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.N530fs	ENST00000538330.1	37	c.1589		12																																																																																			PLCZ1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139151		0.294	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	153	0.00	0	T	NM_033123		18841025	18841025	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	frame_shift_del	116	14.39	20	DEL	1.000	-
PLEKHG1	57480	genome.wustl.edu	37	6	151161918	151161918	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:151161918T>C	ENST00000358517.2	+	16	4255	c.4044T>C	c.(4042-4044)aaT>aaC	p.N1348N	PLEKHG1_ENST00000367328.1_Silent_p.N1348N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1348							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CACCATATAATGATTCTGACA	0.423																																						dbGAP											0													91.0	91.0	91.0					6																	151161918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4044T>C	6.37:g.151161918T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.N1348	ENST00000358517.2	37	c.4044	CCDS34552.1	6																																																																																			PLEKHG1	-	NULL	ENSG00000120278		0.423	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	223	0.00	0	T			151161918	151161918	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	silent	163	18.91	38	SNP	0.001	C
PLG	5340	genome.wustl.edu	37	6	161152104	161152104	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:161152104C>T	ENST00000308192.9	+	11	1341	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	426	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGAACTACTGCAGGAATCCAG	0.493																																						dbGAP											0													87.0	94.0	92.0					6																	161152104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1278C>T	6.37:g.161152104C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15146|Q5TEH4|Q6PA00	Silent	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.C426	ENST00000308192.9	37	c.1278	CCDS5279.1	6																																																																																			PLG	-	pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122194		0.493	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	216	0.00	0	C	NM_000301		161152104	161152104	+1	no_errors	ENST00000308192	ensembl	human	known	69_37n	silent	182	14.55	31	SNP	1.000	T
PLIN4	729359	genome.wustl.edu	37	19	4510761	4510761	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:4510761T>C	ENST00000301286.3	-	3	3168	c.3169A>G	c.(3169-3171)Agg>Ggg	p.R1057G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1057						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTGTGGTCCTGGAACTGGTG	0.647																																						dbGAP											0													43.0	48.0	46.0					19																	4510761		2057	4203	6260	-	-	-	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3169A>G	19.37:g.4510761T>C	ENSP00000301286:p.Arg1057Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.R1057G	ENST00000301286.3	37	c.3169	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	t	12.56	1.974444	0.34848	.	.	ENSG00000167676	ENST00000301286	T	0.03524	3.9	3.65	-7.3	0.01446	.	1.645670	0.04077	U	0.309053	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43410	-0.9393	10	0.56958	D	0.05	-0.582	3.3255	0.07066	0.1172:0.4236:0.2374:0.2218	.	1057	Q96Q06	PLIN4_HUMAN	G	1057	ENSP00000301286:R1057G	ENSP00000301286:R1057G	R	-	1	2	PLIN4	4461761	0.000000	0.05858	0.000000	0.03702	0.659000	0.38960	-0.734000	0.04893	-2.085000	0.00864	0.348000	0.21847	AGG	PLIN4	-	NULL	ENSG00000167676		0.647	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	24	0.00	0	T	XM_170901		4510761	4510761	-1	no_errors	ENST00000301286	ensembl	human	novel	69_37n	missense	8	27.27	3	SNP	0.000	C
KIZ-AS1	101929591	genome.wustl.edu	37	20	21143057	21143057	+	RNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:21143057C>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAAGAGCCAGCCCGCCAGTCT	0.453																																						dbGAP											0													31.0	34.0	33.0					20																	21143057		1862	4102	5964	-	-	-			0																															20.37:g.21143057C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000591761.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.453	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	HGNC	antisense	OTTHUMT00000078258.2	111	0.00	0	C			21143057	21143057	+1	no_errors	ENST00000246027	ensembl	human	known	69_37n	rna	81	18.18	18	SNP	0.106	T
PLRG1	5356	genome.wustl.edu	37	4	155465643	155465643	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:155465643G>T	ENST00000499023.2	-	7	674	c.548C>A	c.(547-549)cCt>cAt	p.P183H	RNU6-1285P_ENST00000363480.1_RNA|PLRG1_ENST00000393905.2_Missense_Mutation_p.P183H|PLRG1_ENST00000302078.5_Missense_Mutation_p.P174H	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	183					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGGCATTGTAGGGGCTTTTTT	0.403																																						dbGAP											0													140.0	141.0	140.0					4																	155465643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.548C>A	4.37:g.155465643G>T	ENSP00000424417:p.Pro183His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P183H	ENST00000499023.2	37	c.548	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.284326	0.95517	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.64803	-0.12;-0.12;-0.05	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	M	0.75615	2.305	0.80722	D	1	D;B	0.89917	1.0;0.068	D;B	0.71656	0.974;0.053	T	0.75947	-0.3138	10	0.36615	T	0.2	-20.6975	20.547	0.99278	0.0:0.0:1.0:0.0	.	174;183	O43660-2;O43660	.;PLRG1_HUMAN	H	183;183;174;181	ENSP00000424417:P183H;ENSP00000377483:P183H;ENSP00000303191:P174H	ENSP00000303191:P174H	P	-	2	0	PLRG1	155685093	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	CCT	PLRG1	-	NULL	ENSG00000171566		0.403	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	130	0.00	0	G	NM_002669		155465643	155465643	-1	no_errors	ENST00000393905	ensembl	human	known	69_37n	missense	110	19.12	26	SNP	1.000	T
PM20D1	148811	genome.wustl.edu	37	1	205814471	205814471	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:205814471G>A	ENST00000367136.4	-	3	515	c.471C>T	c.(469-471)gaC>gaT	p.D157D	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	157					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTTCTTGTCGTCCAGTGTGC	0.577																																						dbGAP											0													101.0	96.0	97.0					1																	205814471		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.471C>T	1.37:g.205814471G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E3|Q96DM4	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.D157	ENST00000367136.4	37	c.471	CCDS1460.1	1																																																																																			PM20D1	-	pfam_Peptidase_M20	ENSG00000162877		0.577	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	163	0.00	0	G	NM_152491		205814471	205814471	-1	no_errors	ENST00000367136	ensembl	human	known	69_37n	silent	143	16.37	28	SNP	1.000	A
PNKD	25953	genome.wustl.edu	37	2	219209287	219209287	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:219209287G>A	ENST00000273077.4	+	9	1029	c.978G>A	c.(976-978)aaG>aaA	p.K326K	PNKD_ENST00000258362.3_Silent_p.K302K|PNKD_ENST00000436005.2_Silent_p.K266K|AC021016.8_ENST00000411433.1_RNA	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	326					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCGCAAGGGCACGGTGA	0.672																																						dbGAP											0													40.0	40.0	40.0					2																	219209287		2193	4286	6479	-	-	-	SO:0001819	synonymous_variant	0				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.978G>A	2.37:g.219209287G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.K326	ENST00000273077.4	37	c.978	CCDS2411.1	2																																																																																			PNKD	-	tigrfam_Hydroxyacylglutathione_Hdrlase	ENSG00000127838		0.672	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2	20	0.00	0	G			219209287	219209287	+1	no_errors	ENST00000273077	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	A
PODXL	5420	genome.wustl.edu	37	7	131195813	131195813	+	Frame_Shift_Del	DEL	C	C	-	rs560608639	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:131195813delC	ENST00000378555.3	-	2	727	c.480delG	c.(478-480)gggfs	p.G160fs	PODXL_ENST00000537928.1_Frame_Shift_Del_p.G160fs|PODXL_ENST00000541194.1_Frame_Shift_Del_p.G162fs|PODXL_ENST00000322985.9_Frame_Shift_Del_p.G160fs|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	160	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGCTGCTTTTCCCCCCAGAGT	0.522																																						dbGAP											0													338.0	296.0	310.0					7																	131195813		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.480delG	7.37:g.131195813delC	ENSP00000367817:p.Gly160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Del	DEL	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.S164fs	ENST00000378555.3	37	c.486	CCDS34755.1	7																																																																																			PODXL	-	pirsf_Podocalyxin-like_p1	ENSG00000128567		0.522	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	135	0.00	0	C	NM_001018111		131195813	131195813	-1	no_errors	ENST00000541194	ensembl	human	known	69_37n	frame_shift_del	59	36.46	35	DEL	0.000	-
POLR1A	25885	genome.wustl.edu	37	2	86310223	86310223	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:86310223C>T	ENST00000263857.6	-	7	1177	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A267T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	267					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCCACAGGGCAGAAAGGTGT	0.453																																						dbGAP											0													104.0	102.0	102.0					2																	86310223		1877	4114	5991	-	-	-	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.799G>A	2.37:g.86310223C>T	ENSP00000263857:p.Ala267Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.A267T	ENST00000263857.6	37	c.799	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516630	0.27123	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.21734	1.99;1.99	5.87	3.1	0.35709	RNA polymerase Rpb1, domain 1 (1);	0.320960	0.36932	N	0.002322	T	0.19525	0.0469	L	0.46741	1.465	0.09310	N	1	P;B	0.44627	0.839;0.005	P;B	0.45538	0.484;0.021	T	0.10382	-1.0632	10	0.13853	T	0.58	-10.1732	8.9208	0.35610	0.1226:0.7489:0.0:0.1286	.	267;267	B9ZVN9;O95602	.;RPA1_HUMAN	T	267	ENSP00000263857:A267T;ENSP00000386300:A267T	ENSP00000263857:A267T	A	-	1	0	POLR1A	86163734	0.195000	0.23338	0.008000	0.14137	0.679000	0.39708	0.654000	0.24918	0.391000	0.25143	-0.182000	0.12963	GCC	POLR1A	-	pfam_RNA_pol_Rpb1_1	ENSG00000068654		0.453	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	56	0.00	0	C	NM_015425		86310223	86310223	-1	no_errors	ENST00000263857	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.054	T
POLR3F	10621	genome.wustl.edu	37	20	18453564	18453565	+	Intron	INS	-	-	T	rs575177119		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:18453564_18453565insT	ENST00000377603.4	+	3	628				POLR3F_ENST00000462997.1_Intron|MIR3192_ENST00000584920.1_RNA	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						GTAAGTACTTGTTTTTTTAATT	0.337																																					GBM(69;898 1468 19907 52011)	dbGAP											0										1,4261		0,1,2130						-2.3	0.0			43	1,8233		0,1,4116	no	intron	POLR3F	NM_006466.2		0,2,6246	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12494				-	-	-	SO:0001627	intron_variant	0			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.248+11->T	20.37:g.18453571_18453571dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C7|O15319	RNA	INS	-	NULL	ENST00000377603.4	37	NULL	CCDS13135.1	20																																																																																			POLR3F	-	-	ENSG00000132664		0.337	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	81	0.00	0	-	NM_006466		18453564	18453565	+1	no_errors	ENST00000475192	ensembl	human	known	69_37n	rna	64	16.88	13	INS	0.000:0.000	T
POLR3F	10621	genome.wustl.edu	37	20	18453607	18453607	+	Intron	SNP	G	G	A	rs555476367	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:18453607G>A	ENST00000377603.4	+	3	628				POLR3F_ENST00000462997.1_Intron|MIR3192_ENST00000584920.1_RNA	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						GCAAACGTATGTGTTGGGAAT	0.333													G|||	4	0.000798722	0.003	0.0	5008	,	,		12795	0.0		0.0	False		,,,				2504	0.0				GBM(69;898 1468 19907 52011)	dbGAP											0													34.0	30.0	31.0					20																	18453607		692	1585	2277	-	-	-	SO:0001627	intron_variant	0			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.248+54G>A	20.37:g.18453607G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C7|O15319	RNA	SNP	-	NULL	ENST00000377603.4	37	NULL	CCDS13135.1	20																																																																																			POLR3F	-	-	ENSG00000132664		0.333	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	40	0.00	0	G	NM_006466		18453607	18453607	+1	no_errors	ENST00000475192	ensembl	human	known	69_37n	rna	32	41.82	23	SNP	0.041	A
POM121	9883	genome.wustl.edu	37	7	72412440	72412440	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:72412440G>A	ENST00000434423.2	+	11	1908	c.1908G>A	c.(1906-1908)ccG>ccA	p.P636P	POM121_ENST00000257622.4_Silent_p.P371P|POM121_ENST00000446813.1_Silent_p.P371P|POM121_ENST00000395270.1_Silent_p.P371P|POM121_ENST00000358357.3_Silent_p.P371P			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	636	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCCTACCCCCGCTGGGTTTAT	0.562																																						dbGAP											0													2.0	3.0	2.0					7																	72412440		1060	2531	3591	-	-	-	SO:0001819	synonymous_variant	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1908G>A	7.37:g.72412440G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.P636	ENST00000434423.2	37	c.1908		7																																																																																			POM121	-	NULL	ENSG00000196313		0.562	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	23	0.00	0	G			72412440	72412440	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	silent	14	44.00	11	SNP	0.000	A
POMGNT1	55624	genome.wustl.edu	37	1	46654518	46654518	+	3'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:46654518G>A	ENST00000371984.3	-	0	2564				POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371992.1_Missense_Mutation_p.A707V|POMGNT1_ENST00000535522.1_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.A707V	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTTGGGCACAGCAGTTTCCTG	0.597																																						dbGAP											0													52.0	52.0	52.0					1																	46654518		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.*424C>T	1.37:g.46654518G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.A707V	ENST00000371984.3	37	c.2120	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607936	0.66558	.	.	ENSG00000085998	ENST00000371992;ENST00000371986	T;T	0.35236	1.32;1.32	5.24	3.21	0.36854	.	0.000000	0.42964	D	0.000624	T	0.24160	0.0585	.	.	.	0.80722	D	1	B	0.34214	0.442	B	0.27076	0.076	T	0.11991	-1.0565	9	0.87932	D	0	-7.6285	6.4321	0.21803	0.0917:0.0:0.7301:0.1782	.	707	Q5VST3	.	V	707	ENSP00000361060:A707V;ENSP00000361054:A707V	ENSP00000361054:A707V	A	-	2	0	POMGNT1	46427105	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.475000	0.45162	1.546000	0.49388	0.655000	0.94253	GCT	POMGNT1	-	NULL	ENSG00000085998		0.597	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	135	0.00	0	G	NM_017739		46654518	46654518	-1	no_errors	ENST00000371986	ensembl	human	known	69_37n	missense	32	51.52	34	SNP	1.000	A
POSTN	10631	genome.wustl.edu	37	13	38138662	38138663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:38138662_38138663insT	ENST00000379747.4	-	22	2583_2584	c.2466_2467insA	c.(2464-2469)aaagttfs	p.V823fs	POSTN_ENST00000541179.1_Frame_Shift_Ins_p.V768fs|POSTN_ENST00000541481.1_Frame_Shift_Ins_p.V736fs|POSTN_ENST00000379749.4_Frame_Shift_Ins_p.V795fs|POSTN_ENST00000379742.4_Frame_Shift_Ins_p.V766fs|POSTN_ENST00000379743.4_Frame_Shift_Ins_p.V796fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	823					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.V823fs*5(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTTGAACTTTTTTGTTGG	0.332																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2467dupA	13.37:g.38138668_38138668dupT	ENSP00000369071:p.Val823fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Frame_Shift_Ins	INS	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.V822fs	ENST00000379747.4	37	c.2467_2466	CCDS9364.1	13																																																																																			POSTN	-	NULL	ENSG00000133110		0.332	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	76	0.00	0	-	NM_006475		38138662	38138663	-1	no_errors	ENST00000379747	ensembl	human	known	69_37n	frame_shift_ins	103	11.21	13	INS	0.956:0.969	T
POU5F1	5460	genome.wustl.edu	37	6	31138068	31138068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:31138068delG	ENST00000259915.8	-	1	402	c.330delC	c.(328-330)gccfs	p.A110fs	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	110					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	GCTCCGGGGAGGCCCCATCGG	0.667			T	EWSR1	sarcoma																																	dbGAP		Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0													35.0	38.0	37.0					6																	31138068		1509	2708	4217	-	-	-	SO:0001589	frameshift_variant	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.330delC	6.37:g.31138068delG	ENSP00000259915:p.Ala110fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Frame_Shift_Del	DEL	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S111fs	ENST00000259915.8	37	c.330	CCDS34391.1	6																																																																																			POU5F1	-	NULL	ENSG00000204531		0.667	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	67	0.00	0	G	NM_002701		31138068	31138068	-1	no_errors	ENST00000259915	ensembl	human	known	69_37n	frame_shift_del	62	11.11	8	DEL	0.991	-
PPIP5K2	23262	genome.wustl.edu	37	5	102494154	102494156	+	Splice_Site	DEL	AGG	AGG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:102494154_102494156delAGG	ENST00000358359.3	+	16	2124_2125	c.1615_1616delAGG	c.(1615-1617)agg>g	p.R539del	PPIP5K2_ENST00000321521.9_Splice_Site_p.R539del|PPIP5K2_ENST00000414217.1_Splice_Site_p.R539del|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	539					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTTATTTTCAGGAGATTATGCA	0.32																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1616-1AGG>-	5.37:g.102494154_102494156delAGG		Somatic		WXS	Illumina GAIIx	Phase_IV	A1NI53|A6NGS8|Q8TB50	Splice_Site	DEL	-	e15-1	ENST00000358359.3	37	c.1616-2_1616-1		5																																																																																			PPIP5K2	-	-	ENSG00000145725		0.320	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	180	0.00	0	AGG	NM_015216	In_Frame_Del	102494154	102494156	+1	no_errors	ENST00000358359	ensembl	human	known	69_37n	splice_site_del	91	36.42	55	DEL	1.000:1.000:1.000	-
PPP1R12A	4659	genome.wustl.edu	37	12	80214932	80214932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:80214932delT	ENST00000450142.2	-	7	1148	c.882delA	c.(880-882)aaafs	p.K294fs	PPP1R12A_ENST00000437004.2_Frame_Shift_Del_p.K294fs|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000261207.5_Frame_Shift_Del_p.K294fs|PPP1R12A_ENST00000546369.1_Frame_Shift_Del_p.K207fs|PPP1R12A_ENST00000550107.1_Frame_Shift_Del_p.K294fs	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	294					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTTGTCCCGTTTTTCACTAT	0.294																																						dbGAP											0													173.0	161.0	165.0					12																	80214932		1799	4070	5869	-	-	-	SO:0001589	frameshift_variant	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.882delA	12.37:g.80214932delT	ENSP00000389168:p.Lys294fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Frame_Shift_Del	DEL	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K294fs	ENST00000450142.2	37	c.882	CCDS44947.1	12																																																																																			PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000058272		0.294	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	186	0.00	0	T	NM_002480		80214932	80214932	-1	no_errors	ENST00000261207	ensembl	human	known	69_37n	frame_shift_del	143	18.29	32	DEL	0.998	-
PPP1R12C	54776	genome.wustl.edu	37	19	55607462	55607462	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:55607462delC	ENST00000263433.3	-	8	1125	c.1110delG	c.(1108-1110)gggfs	p.G370fs	PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs|PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGATGGGGGGCCCCCCAGCCC	0.647																																						dbGAP											0													46.0	58.0	54.0					19																	55607462		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1110delG	19.37:g.55607462delC	ENSP00000263433:p.Gly370fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I373fs	ENST00000263433.3	37	c.1110	CCDS12916.1	19																																																																																			PPP1R12C	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000125503		0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	HGNC	protein_coding	OTTHUMT00000451814.2	69	0.00	0	C	NM_017607		55607462	55607462	-1	no_errors	ENST00000263433	ensembl	human	known	69_37n	frame_shift_del	34	14.63	6	DEL	0.002	-
PPP1R17	10842	genome.wustl.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGTCAGACCAAAAAAAACCA	0.438																																						dbGAP											0									,	4,0,4260		0,0,4,0,0,2128	142.0	138.0	140.0		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	NULL	p.K62fs	ENST00000342032.3	37	c.179	CCDS5436.1	7																																																																																			PPP1R17	-	NULL	ENSG00000106341		0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	434	0.46	2	A	NM_006658		31735179	31735179	+1	no_errors	ENST00000342032	ensembl	human	known	69_37n	frame_shift_del	346	16.75	70	DEL	0.999	-
PPP1R21	129285	genome.wustl.edu	37	2	48692641	48692641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:48692641C>T	ENST00000294952.8	+	9	914	c.757C>T	c.(757-759)Cga>Tga	p.R253*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.R253*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.R253*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	253						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						GCTGAAGATGCGAGATATTGC	0.358																																						dbGAP											0													96.0	96.0	96.0					2																	48692641		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.757C>T	2.37:g.48692641C>T	ENSP00000294952:p.Arg253*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RR-like	p.R253*	ENST00000294952.8	37	c.757	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.237248	0.97403	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.24	2.3	0.28687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0447	14.4598	0.67440	0.3517:0.6483:0.0:0.0	.	.	.	.	X	253	.	ENSP00000281394:R253X	R	+	1	2	KLRAQ1	48546145	1.000000	0.71417	0.983000	0.44433	0.843000	0.47879	2.897000	0.48664	0.157000	0.19338	-0.271000	0.10264	CGA	PPP1R21	-	NULL	ENSG00000162869		0.358	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	163	0.00	0	C	NM_152994		48692641	48692641	+1	no_errors	ENST00000294952	ensembl	human	known	69_37n	nonsense	138	17.37	29	SNP	1.000	T
PPP1R3B	79660	genome.wustl.edu	37	8	8998374	8998374	+	Missense_Mutation	SNP	C	C	A	rs571647863	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:8998374C>A	ENST00000310455.3	-	2	938	c.788G>T	c.(787-789)cGg>cTg	p.R263L	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.R263L	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	263					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGGAACACCGAGGGCTTCC	0.517																																						dbGAP											0													102.0	102.0	102.0					8																	8998374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.788G>T	8.37:g.8998374C>A	ENSP00000308318:p.Arg263Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTV3|Q9H812	Missense_Mutation	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.R263L	ENST00000310455.3	37	c.788	CCDS5973.1	8	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400314	0.83120	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.50813	0.73;0.73	5.93	4.14	0.48551	.	0.121988	0.51477	D	0.000088	T	0.43322	0.1242	M	0.70595	2.14	0.50467	D	0.999871	P	0.41524	0.753	B	0.33846	0.171	T	0.41734	-0.9492	10	0.48119	T	0.1	-27.2094	11.4135	0.49939	0.0:0.8562:0.0:0.1438	.	263	Q86XI6	PPR3B_HUMAN	L	263	ENSP00000308318:R263L;ENSP00000428642:R263L	ENSP00000308318:R263L	R	-	2	0	PPP1R3B	9035784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.073000	0.64395	0.851000	0.35264	0.561000	0.74099	CGG	PPP1R3B	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000173281		0.517	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3B	HGNC	protein_coding	OTTHUMT00000251472.1	83	0.00	0	C	NM_024607		8998374	8998374	-1	no_errors	ENST00000310455	ensembl	human	known	69_37n	missense	70	25.26	24	SNP	1.000	A
PRAMEF2	65122	genome.wustl.edu	37	1	12918987	12918987	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:12918987G>A	ENST00000240189.2	+	2	210	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	41					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCTTCAGGGAGGCCTTCA	0.602																																						dbGAP											0													115.0	121.0	119.0					1																	12918987		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.123G>A	1.37:g.12918987G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.R41	ENST00000240189.2	37	c.123	CCDS149.1	1																																																																																			PRAMEF2	-	NULL	ENSG00000120952		0.602	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	352	0.00	0	G	NM_023014		12918987	12918987	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	silent	258	17.31	54	SNP	0.118	A
PRDM11	56981	genome.wustl.edu	37	11	45246195	45246195	+	Silent	SNP	C	C	T	rs578069391		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:45246195C>T	ENST00000530656.1	+	7	1272	c.1272C>T	c.(1270-1272)gcC>gcT	p.A424A	PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Silent_p.A424A|PRDM11_ENST00000424263.2_Silent_p.A390A			Q9NQV5	PRD11_HUMAN	PR domain containing 11	424							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CATTCAAGGCCGACAGTCCTG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17415	0.0		0.0	False		,,,				2504	0.001				NSCLC(118;1511 1736 6472 36603 43224)	dbGAP											0													150.0	154.0	153.0					11																	45246195		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1272C>T	11.37:g.45246195C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9F1	Silent	SNP	pfscan_SET_dom	p.A424	ENST00000530656.1	37	c.1272		11																																																																																			PRDM11	-	NULL	ENSG00000019485		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	352	0.00	0	C	NM_020229		45246195	45246195	+1	no_errors	ENST00000263765	ensembl	human	known	69_37n	silent	195	40.00	130	SNP	0.778	T
PRDM13	59336	genome.wustl.edu	37	6	100060928	100060928	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:100060928C>T	ENST00000369215.4	+	4	722	c.417C>T	c.(415-417)tgC>tgT	p.C139C		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	139					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCTACATCTGCTGGTACTGCT	0.587																																						dbGAP											0													40.0	42.0	41.0					6																	100060928		2056	4205	6261	-	-	-	SO:0001819	synonymous_variant	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.417C>T	6.37:g.100060928C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGC1|Q5TGC2	Silent	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C149	ENST00000369215.4	37	c.447	CCDS43487.1	6																																																																																			PRDM13	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112238		0.587	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	17	0.00	0	C			100060928	100060928	+1	no_errors	ENST00000369214	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	T
PRELP	5549	genome.wustl.edu	37	1	203455873	203455873	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:203455873C>T	ENST00000343110.2	+	3	1140	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	338					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTAGTGGCGTTCCATGAC	0.562																																						dbGAP											0													112.0	101.0	105.0					1																	203455873		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.1013C>T	1.37:g.203455873C>T	ENSP00000343924:p.Ala338Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A338V	ENST00000343110.2	37	c.1013	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752573	0.31046	.	.	ENSG00000188783	ENST00000343110	T	0.42131	0.98	5.45	5.45	0.79879	.	0.567751	0.17618	N	0.167859	T	0.32194	0.0821	N	0.19112	0.55	0.09310	N	1	B	0.23249	0.082	B	0.19946	0.027	T	0.13953	-1.0490	10	0.33141	T	0.24	-15.571	17.8651	0.88793	0.0:1.0:0.0:0.0	.	338	P51888	PRELP_HUMAN	V	338	ENSP00000343924:A338V	ENSP00000343924:A338V	A	+	2	0	PRELP	201722496	0.702000	0.27816	0.744000	0.31058	0.530000	0.34684	2.976000	0.49289	2.553000	0.86117	0.555000	0.69702	GCG	PRELP	-	NULL	ENSG00000188783		0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	86	0.00	0	C	NM_002725		203455873	203455873	+1	no_errors	ENST00000343110	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	0.142	T
PREX1	57580	genome.wustl.edu	37	20	47305234	47305234	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:47305234C>T	ENST00000371941.3	-	10	1317	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R432Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R432Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCTTTCTCCGGCGGTCCTT	0.562																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											167.0	119.0	136.0					20																	47305234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1295G>A	20.37:g.47305234C>T	ENSP00000361009:p.Arg432Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R432Q	ENST00000371941.3	37	c.1295	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795891	0.90453	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.28895	1.59;1.59	5.29	4.35	0.52113	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000034	T	0.45034	0.1322	M	0.75884	2.315	0.51767	D	0.999934	D	0.56287	0.975	P	0.50791	0.65	T	0.51934	-0.8642	10	0.72032	D	0.01	.	13.8488	0.63483	0.0:0.9265:0.0:0.0735	.	432	Q8TCU6	PREX1_HUMAN	Q	432	ENSP00000361009:R432Q;ENSP00000379522:R432Q	ENSP00000361009:R432Q	R	-	2	0	PREX1	46738641	0.965000	0.33210	0.619000	0.29118	0.996000	0.88848	3.822000	0.55708	1.229000	0.43630	0.563000	0.77884	CGG	PREX1	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000124126		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	83	0.00	0	C	NM_020820		47305234	47305234	-1	no_errors	ENST00000371941	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	T
PRG4	10216	genome.wustl.edu	37	1	186276040	186276040	+	Missense_Mutation	SNP	G	G	A	rs367903219		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:186276040G>A	ENST00000445192.2	+	7	1234	c.1189G>A	c.(1189-1191)Gca>Aca	p.A397T	PRG4_ENST00000367484.3_Missense_Mutation_p.A356T|PRG4_ENST00000367483.4_Missense_Mutation_p.A356T|PRG4_ENST00000367486.3_Missense_Mutation_p.A354T|PRG4_ENST00000367485.4_Missense_Mutation_p.A304T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	397	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.642																																						dbGAP											0													94.0	90.0	91.0					1																	186276040		2202	4296	6498	-	-	-	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1189G>A	1.37:g.186276040G>A	ENSP00000399679:p.Ala397Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.A397T	ENST00000445192.2	37	c.1189	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	-	8.735	0.917495	0.17982	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.07688	3.19;3.45;3.34;3.17;3.32	3.13	-3.12	0.05282	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25312	0.123;0.047;0.028;0.047	B;B;B;B	0.16289	0.015;0.015;0.006;0.015	T	0.44574	-0.9319	8	.	.	.	.	0.7998	0.01073	0.2814:0.3288:0.2237:0.1661	.	263;304;397;356	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	354;356;263;356;304;397	ENSP00000356456:A354T;ENSP00000356454:A356T;ENSP00000356453:A356T;ENSP00000356455:A304T;ENSP00000399679:A397T	.	A	+	1	0	PRG4	184542663	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.372000	0.07504	-0.376000	0.07943	0.478000	0.44815	GCA	PRG4	-	NULL	ENSG00000116690		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	33	0.00	0	G	NM_005807		186276040	186276040	+1	no_errors	ENST00000445192	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.000	A
URAD	646625	genome.wustl.edu	37	13	28562744	28562744	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:28562744G>T	ENST00000332715.5	-	1	47	c.31C>A	c.(31-33)Ctt>Att	p.L11I	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	11					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										AATTCTCCAAGGTCCATGGAG	0.527																																						dbGAP											0													101.0	106.0	105.0					13																	28562744		2098	4227	6325	-	-	-	SO:0001583	missense	0				CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.31C>A	13.37:g.28562744G>T	ENSP00000333490:p.Leu11Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	p.L11I	ENST00000332715.5	37	c.31	CCDS45020.1	13	.	.	.	.	.	.	.	.	.	.	g	11.09	1.536114	0.27475	.	.	ENSG00000183463	ENST00000332715	T	0.42513	0.97	5.29	4.11	0.48088	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.199210	0.44902	D	0.000414	T	0.23451	0.0567	N	0.12961	0.28	0.20196	N	0.999927	B	0.09022	0.002	B	0.15052	0.012	T	0.15809	-1.0424	10	0.25106	T	0.35	-2.8887	8.1246	0.30990	0.9085:0.0:0.0915:0.0	.	11	A6NGE7	URAD_HUMAN	I	11	ENSP00000333490:L11I	ENSP00000333490:L11I	L	-	1	0	PRHOXNB	27460744	1.000000	0.71417	0.943000	0.38184	0.875000	0.50365	4.029000	0.57253	0.847000	0.35167	-0.285000	0.09966	CTT	PRHOXNB	-	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	ENSG00000183463		0.527	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRHOXNB	HGNC	protein_coding	OTTHUMT00000472432.1	49	0.00	0	G			28562744	28562744	-1	no_errors	ENST00000332715	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	0.965	T
PRKAR2B	5577	genome.wustl.edu	37	7	106786880	106786880	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:106786880A>G	ENST00000265717.4	+	6	974	c.715A>G	c.(715-717)Acc>Gcc	p.T239A		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	239					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AATCACTGCTACCTCTCCTGG	0.433																																						dbGAP											0													167.0	143.0	151.0					7																	106786880		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.715A>G	7.37:g.106786880A>G	ENSP00000265717:p.Thr239Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.T239A	ENST00000265717.4	37	c.715	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547999	0.86022	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.92446	-3.04	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	L	0.39566	1.225	0.80722	D	1	B	0.27166	0.17	B	0.29598	0.104	D	0.86186	0.1609	10	0.37606	T	0.19	-1.0204	15.7338	0.77827	1.0:0.0:0.0:0.0	.	239	P31323	KAP3_HUMAN	A	239;239;226	ENSP00000265717:T239A	ENSP00000265717:T239A	T	+	1	0	PRKAR2B	106574116	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.134000	0.65973	0.533000	0.62120	ACC	PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.433	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	47	0.00	0	A			106786880	106786880	+1	no_errors	ENST00000265717	ensembl	human	known	69_37n	missense	62	16.22	12	SNP	1.000	G
PRKCE	5581	genome.wustl.edu	37	2	46237550	46237551	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:46237550_46237551insA	ENST00000306156.3	+	10	1658_1659	c.1331_1332insA	c.(1330-1335)atccttfs	p.L445fs	PRKCE_ENST00000394874.1_Frame_Shift_Ins_p.L168fs	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	AAGGACGTCATCCTTCAGGATG	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	Exception_encountered	2.37:g.46237550_46237551insA	ENSP00000306124:p.Leu445fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.L445fs	ENST00000306156.3	37	c.1331_1332	CCDS1824.1	2																																																																																			PRKCE	-	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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000171132		0.465	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	223	0.00	0	-			46237550	46237551	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	frame_shift_ins	249	12.94	37	INS	1.000:1.000	A
PRKCE	5581	genome.wustl.edu	37	2	46313350	46313350	+	Missense_Mutation	SNP	C	C	A	rs377213484		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:46313350C>A	ENST00000306156.3	+	11	1768	c.1441C>A	c.(1441-1443)Cgc>Agc	p.R481S		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CTTTCAGGACCGCCTCTTTTT	0.483																																						dbGAP											0													136.0	123.0	127.0					2																	46313350		1774	3754	5528	-	-	-	SO:0001583	missense	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1441C>A	2.37:g.46313350C>A	ENSP00000306124:p.Arg481Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.R481S	ENST00000306156.3	37	c.1441	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313641	0.81358	.	.	ENSG00000171132	ENST00000306156	T	0.64618	-0.11	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	N	0.12471	0.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73528	-0.3954	10	0.87932	D	0	.	18.85	0.92224	0.0:1.0:0.0:0.0	.	481	Q02156	KPCE_HUMAN	S	481	ENSP00000306124:R481S	ENSP00000306124:R481S	R	+	1	0	PRKCE	46166854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.822000	0.69265	2.750000	0.94351	0.655000	0.94253	CGC	PRKCE	-	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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000171132		0.483	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	480	0.00	0	C			46313350	46313350	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	missense	410	17.51	87	SNP	1.000	A
PROM1	8842	genome.wustl.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						dbGAP											0													189.0	187.0	188.0					4																	15995680		1901	4120	6021	-	-	-	SO:0001589	frameshift_variant	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	pfam_Prominin	p.N566fs	ENST00000510224.1	37	c.1697	CCDS47029.1	4																																																																																			PROM1	-	pfam_Prominin	ENSG00000007062		0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	123	0.00	0	T	NM_006017		15995680	15995680	-1	no_errors	ENST00000447510	ensembl	human	known	69_37n	frame_shift_del	65	48.41	61	DEL	0.415	-
PRR3	80742	genome.wustl.edu	37	6	30530350	30530350	+	3'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30530350G>A	ENST00000376560.3	+	0	1104				PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						CCCTATGATGGCTACTGTGAG	0.562																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.*78G>A	6.37:g.30530350G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4H4|Q5RJB5|Q5STN6	RNA	SNP	-	NULL	ENST00000376560.3	37	NULL	CCDS43440.1	6																																																																																			PRR3	-	-	ENSG00000204576		0.562	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR3	HGNC	protein_coding	OTTHUMT00000076033.2	71	0.00	0	G	NM_025263		30530350	30530350	+1	no_errors	ENST00000481741	ensembl	human	known	69_37n	rna	69	13.75	11	SNP	0.977	A
PRRG1	5638	genome.wustl.edu	37	X	37265483	37265483	+	5'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:37265483G>A	ENST00000542554.1	+	0	253				PRRG1_ENST00000449135.2_5'UTR|PRRG1_ENST00000463135.1_5'UTR|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_5'UTR|PRRG1_ENST00000378628.4_5'UTR|TM4SF2_ENST00000465127.1_5'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAGGGACGTGCCAGAAACCA	0.418																																						dbGAP											0													130.0	108.0	116.0					X																	37265483		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.-20G>A	X.37:g.37265483G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7A3|C9JXL7|D3DWA9|Q5JT66	RNA	SNP	-	NULL	ENST00000542554.1	37	NULL	CCDS14239.1	X																																																																																			PRRG1	-	-	ENSG00000130962		0.418	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	130	0.00	0	G	NM_000950		37265483	37265483	+1	no_errors	ENST00000491253	ensembl	human	known	69_37n	rna	79	22.55	23	SNP	0.001	A
PRRG1	5638	genome.wustl.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	ovary(2)											117.0	111.0	113.0					X																	37312611		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	pfam_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.P134fs	ENST00000542554.1	37	c.394	CCDS14239.1	X																																																																																			PRRG1	-	NULL	ENSG00000130962		0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	207	0.48	1	C	NM_000950		37312611	37312611	+1	no_errors	ENST00000378628	ensembl	human	known	69_37n	frame_shift_del	165	25.66	58	DEL	0.109	-
PRRX1	5396	genome.wustl.edu	37	1	170705330	170705330	+	3'UTR	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:170705330delA	ENST00000239461.6	+	0	1054				PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAACTGAGGAAAAAAAATAA	0.418																																						dbGAP											0													65.0	65.0	65.0					1																	170705330		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.*3A>-	1.37:g.170705330delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM7|O60807	RNA	DEL	-	NULL	ENST00000239461.6	37	NULL	CCDS1290.1	1																																																																																			PRRX1	-	-	ENSG00000116132		0.418	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	202	0.00	0	A	NM_006902		170705330	170705330	+1	no_errors	ENST00000485529	ensembl	human	putative	69_37n	rna	212	16.08	41	DEL	0.995	-
PRSS21	10942	genome.wustl.edu	37	16	2871056	2871056	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:2871056C>A	ENST00000005995.3	+	5	693	c.651C>A	c.(649-651)atC>atA	p.I217I	PRSS21_ENST00000450020.3_Silent_p.I217I|PRSS21_ENST00000455114.1_Silent_p.I215I|PRSS21_ENST00000575739.1_Intron			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GCAAGGACATCTTTGGAGACA	0.542																																						dbGAP											0													345.0	313.0	324.0					16																	2871056		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.651C>A	16.37:g.2871056C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NS34|Q9P2V6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S159Y	ENST00000005995.3	37	c.476	CCDS10478.1	16																																																																																			PRSS21	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000007038		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS21	HGNC	protein_coding	OTTHUMT00000250910.1	225	0.00	0	C	NM_006799		2871056	2871056	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000574265	ensembl	human	novel	69_37n	missense	115	15.44	21	SNP	0.000	A
PRSS8	5652	genome.wustl.edu	37	16	31144006	31144007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:31144006_31144007insG	ENST00000317508.6	-	4	797_798	c.534_535insC	c.(532-537)ccctcafs	p.S179fs	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Frame_Shift_Ins_p.S125fs	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ACCTCACCTGAGGGGGCCACAT	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.535dupC	16.37:g.31144011_31144011dupG	ENSP00000319730:p.Ser179fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWP2|Q9UCA3	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.S178fs	ENST00000317508.6	37	c.535_534	CCDS45469.1	16																																																																																			PRSS8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000052344		0.658	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS8	HGNC	protein_coding	OTTHUMT00000433536.1	108	0.00	0	-	NM_002773		31144006	31144007	-1	no_errors	ENST00000317508	ensembl	human	known	69_37n	frame_shift_ins	68	15.00	12	INS	0.792:0.155	G
PSAPL1	768239	genome.wustl.edu	37	4	7435852	7435852	+	Frame_Shift_Del	DEL	C	C	-	rs201944936		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:7435852delC	ENST00000319098.4	-	1	848	c.755delG	c.(754-756)ggafs	p.G252fs	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	252	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						CTCACAGAATCCCCCCTTCCT	0.612																																						dbGAP											0													49.0	52.0	51.0					4																	7435852		1937	4142	6079	-	-	-	SO:0001589	frameshift_variant	0			DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.755delG	4.37:g.7435852delC	ENSP00000317445:p.Gly252fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A184|Q8N7T4	Frame_Shift_Del	DEL	pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin	p.G252fs	ENST00000319098.4	37	c.755	CCDS47009.1	4																																																																																			PSAPL1	-	pirsf_Saposin_chordata,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	ENSG00000178597		0.612	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAPL1	HGNC	protein_coding	OTTHUMT00000358859.1	45	0.00	0	C			7435852	7435852	-1	no_errors	ENST00000319098	ensembl	human	known	69_37n	frame_shift_del	30	23.08	9	DEL	0.526	-
PSG8	440533	genome.wustl.edu	37	19	43258550	43258550	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:43258550G>A	ENST00000306511.4	-	5	1275	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	PSG8_ENST00000401467.2_Missense_Mutation_p.A300V|PSG8_ENST00000406636.3_Missense_Mutation_p.A271V|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Missense_Mutation_p.A393V	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	393	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AACAGAGCAAGCATAGAGCCC	0.458																																						dbGAP											0													191.0	206.0	201.0					19																	43258550		2203	4296	6499	-	-	-	SO:0001583	missense	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1178C>T	19.37:g.43258550G>A	ENSP00000305005:p.Ala393Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A393V	ENST00000306511.4	37	c.1178	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.606727	0.00842	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.28	-2.57	0.06248	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05181	0.0138	N	0.05031	-0.125	0.09310	N	1	B;B;B;B;B;B	0.14805	0.0;0.011;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.18263	0.004;0.021;0.007;0.004;0.004;0.007	T	0.37798	-0.9690	9	0.23302	T	0.38	.	4.5735	0.12221	0.2006:0.2383:0.5611:0.0	.	271;300;393;300;393;393	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	V	393;175;271;300;205;300;393	ENSP00000385869:A393V;ENSP00000385081:A271V;ENSP00000386090:A300V;ENSP00000305005:A393V	ENSP00000292109:A175V	A	-	2	0	PSG8	47950390	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.119000	0.03276	-1.979000	0.00992	-0.789000	0.03336	GCT	PSG8	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124467		0.458	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	537	0.00	0	G			43258550	43258550	-1	no_errors	ENST00000306511	ensembl	human	known	69_37n	missense	406	29.76	172	SNP	0.000	A
PSMD5	5711	genome.wustl.edu	37	9	123589008	123589008	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:123589008G>A	ENST00000210313.3	-	6	889				PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AATAAAACACGCACCATCATT	0.423																																						dbGAP											0													55.0	52.0	53.0					9																	123589008		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.814+34C>T	9.37:g.123589008G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZM8|Q15045|Q4VXG8	RNA	SNP	-	NULL	ENST00000210313.3	37	NULL	CCDS6824.1	9																																																																																			PSMD5	-	-	ENSG00000095261		0.423	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	120	0.00	0	G	NM_005047		123589008	123589008	-1	no_errors	ENST00000496688	ensembl	human	known	69_37n	rna	117	12.59	17	SNP	0.000	A
PTCD3	55037	genome.wustl.edu	37	2	86358229	86358232	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGTA	AGTA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:86358229_86358232delAGTA	ENST00000254630.7	+	16	1332	c.1266delAGTA	c.(1264-1266)ata>at	p.I422fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	422					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCATGAGCATAGTAAGTATCATTT	0.314																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1266+1AGTA>-	2.37:g.86358233_86358236delAGTA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Frame_Shift_Del	DEL	NULL	p.C423fs	ENST00000254630.7	37	c.1266	CCDS33235.1	2																																																																																			PTCD3	-	NULL	ENSG00000132300		0.314	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1	68	0.00	0	AGTA	NM_017952	Frame_Shift_Del	86358229	86358232	+1	no_errors	ENST00000254630	ensembl	human	known	69_37n	frame_shift_del	69	15.85	13	DEL	0.968	-
PTCH1	5727	genome.wustl.edu	37	9	98220458	98220458	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:98220458G>A	ENST00000331920.6	-	18	3304	c.3005C>T	c.(3004-3006)aCg>aTg	p.T1002M	PTCH1_ENST00000430669.2_Missense_Mutation_p.T936M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T851M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T1001M|PTCH1_ENST00000418258.1_Missense_Mutation_p.T851M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T936M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T851M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1002					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCCCAGGCTCGTATAGTTGCT	0.557																																						dbGAP											1	Deletion - Frameshift(1)	central_nervous_system(1)	GRCh37	CD050905	PTCH1	D							82.0	72.0	75.0					9																	98220458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3005C>T	9.37:g.98220458G>A	ENSP00000332353:p.Thr1002Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.T1002M	ENST00000331920.6	37	c.3005	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455773	0.43634	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.87	4.96	0.65561	.	0.092295	0.85682	D	0.000000	T	0.77116	0.4083	N	0.24115	0.695	0.54753	D	0.999989	B;B;P	0.42039	0.267;0.4;0.769	B;B;B	0.36534	0.094;0.073;0.227	T	0.79841	-0.1633	10	0.56958	D	0.05	-15.08	17.2772	0.87119	0.0:0.1255:0.8745:0.0	.	936;1001;1002	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	M	1002;936;851;851;438;936;851;1001	ENSP00000332353:T1002M;ENSP00000389744:T936M;ENSP00000399981:T851M;ENSP00000396135:T851M;ENSP00000410287:T936M;ENSP00000414823:T851M;ENSP00000364423:T1001M	ENSP00000332353:T1002M	T	-	2	0	PTCH1	97260279	1.000000	0.71417	0.918000	0.36340	0.880000	0.50808	3.950000	0.56676	1.586000	0.49944	0.655000	0.94253	ACG	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	48	0.00	0	G	NM_000264		98220458	98220458	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	0.994	A
PTGS1	5742	genome.wustl.edu	37	9	125143664	125143664	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:125143664C>T	ENST00000362012.2	+	6	516	c.511C>T	c.(511-513)Cca>Tca	p.P171S	PTGS1_ENST00000540753.1_Missense_Mutation_p.P146S|PTGS1_ENST00000373698.5_Missense_Mutation_p.P62S|PTGS1_ENST00000223423.4_Missense_Mutation_p.P171S	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	171					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAGCAGTTGCCAGATGCCCA	0.572																																						dbGAP											0													39.0	39.0	39.0					9																	125143664		2203	4300	6503	-	-	-	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.511C>T	9.37:g.125143664C>T	ENSP00000354612:p.Pro171Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P171S	ENST00000362012.2	37	c.511	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895613	0.91962	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.93420	3.415	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.81914	0.976;0.995;0.991	T	0.81795	-0.0769	10	0.87932	D	0	-8.0074	17.9965	0.89185	0.0:1.0:0.0:0.0	.	146;171;171	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	S	146;171;171;62	ENSP00000437709:P146S;ENSP00000354612:P171S;ENSP00000223423:P171S;ENSP00000362802:P62S	ENSP00000223423:P171S	P	+	1	0	PTGS1	124183485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.736000	0.84948	2.556000	0.86216	0.561000	0.74099	CCA	PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.572	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	49	0.00	0	C			125143664	125143664	+1	no_errors	ENST00000362012	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	T
PTH2R	5746	genome.wustl.edu	37	2	209308166	209308166	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:209308166C>T	ENST00000272847.2	+	6	816	c.603C>T	c.(601-603)gtC>gtT	p.V201V	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	201					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ACAGAGTAGTCCATGCTCACA	0.418																																						dbGAP											0													138.0	126.0	130.0					2																	209308166		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.603C>T	2.37:g.209308166C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N429	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V201	ENST00000272847.2	37	c.603	CCDS2383.1	2																																																																																			PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000144407		0.418	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	170	0.00	0	C	NM_005048		209308166	209308166	+1	no_errors	ENST00000272847	ensembl	human	known	69_37n	silent	152	20.42	39	SNP	1.000	T
PTOV1	53635	genome.wustl.edu	37	19	50360301	50360303	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:50360301_50360303delAAG	ENST00000601675.1	+	6	732_734	c.628_630delAAG	c.(628-630)aagdel	p.K212del	PTOV1_ENST00000600603.1_In_Frame_Del_p.K180del|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_In_Frame_Del_p.K180del|PTOV1_ENST00000599732.1_In_Frame_Del_p.K212del|AC018766.5_ENST00000599259.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000391842.1_In_Frame_Del_p.K212del|MIR4749_ENST00000578197.1_RNA|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601638.1_In_Frame_Del_p.K180del|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	212	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTACTCGTCCAAGAAGAAGATCT	0.64																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.628_630delAAG	19.37:g.50360307_50360309delAAG	ENSP00000472816:p.Lys212del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	pfam_Mediator_Med25	p.K212in_frame_del	ENST00000601675.1	37	c.628_630	CCDS12782.1	19																																																																																			PTOV1	-	pfam_Mediator_Med25	ENSG00000104960		0.640	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	108	0.00	0	AAG	NM_017432		50360301	50360303	+1	no_errors	ENST00000391842	ensembl	human	known	69_37n	in_frame_del	46	17.86	10	DEL	1.000:1.000:1.000	-
PTPN11	5781	genome.wustl.edu	37	12	112915489	112915489	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:112915489T>C	ENST00000351677.2	+	8	1086	c.888T>C	c.(886-888)gaT>gaC	p.D296D	PTPN11_ENST00000392597.1_Silent_p.D296D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	296	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACGATGGTGATCCCAATGAGC	0.393			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0													208.0	179.0	189.0					12																	112915489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.888T>C	12.37:g.112915489T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1D9|Q96HD7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.D296	ENST00000351677.2	37	c.888	CCDS9163.1	12																																																																																			PTPN11	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000179295		0.393	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	HGNC	protein_coding	OTTHUMT00000259496.2	140	0.00	0	T			112915489	112915489	+1	no_errors	ENST00000351677	ensembl	human	known	69_37n	silent	152	15.08	27	SNP	0.996	C
PTPN23	25930	genome.wustl.edu	37	3	47450544	47450544	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:47450544C>T	ENST00000265562.4	+	16	1686	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	PTPN23_ENST00000431726.1_Missense_Mutation_p.R411W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	537					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACCAGGTCCGGGCTGCCCT	0.657																																						dbGAP											0													66.0	68.0	67.0					3																	47450544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1609C>T	3.37:g.47450544C>T	ENSP00000265562:p.Arg537Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R537W	ENST00000265562.4	37	c.1609	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686906	0.68157	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.31769	1.48	4.29	3.39	0.38822	.	0.215910	0.39274	N	0.001407	T	0.45135	0.1327	L	0.47716	1.5	0.41367	D	0.987461	P;D	0.89917	0.524;1.0	P;D	0.73708	0.466;0.981	T	0.40384	-0.9566	10	0.66056	D	0.02	-32.9176	10.8694	0.46875	0.3393:0.6607:0.0:0.0	.	411;537	B4DST5;Q9H3S7	.;PTN23_HUMAN	W	502;537	ENSP00000265562:R537W	ENSP00000265562:R537W	R	+	1	2	PTPN23	47425548	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.969000	0.49232	0.977000	0.38444	0.557000	0.71058	CGG	PTPN23	-	NULL	ENSG00000076201		0.657	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	72	0.00	0	C	NM_015466		47450544	47450544	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.998	T
PTPN9	5780	genome.wustl.edu	37	15	75798271	75798271	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:75798271T>C	ENST00000306726.2	-	7	1225	c.713A>G	c.(712-714)tAc>tGc	p.Y238C	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	238	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTTTGACGTACCCACCCAG	0.498																																						dbGAP											0													84.0	83.0	83.0					15																	75798271		2197	4294	6491	-	-	-	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.713A>G	15.37:g.75798271T>C	ENSP00000303554:p.Tyr238Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.Y238C	ENST00000306726.2	37	c.713	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716808	0.30413	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84223	-1.82	6.02	6.02	0.97574	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.366720	0.30446	N	0.009610	T	0.61502	0.2352	N	0.02011	-0.69	0.28428	N	0.917394	B	0.06786	0.001	B	0.06405	0.002	T	0.49615	-0.8921	10	0.38643	T	0.18	.	3.2472	0.06801	0.1383:0.0736:0.1448:0.6433	.	238	P43378	PTN9_HUMAN	C	238;228	ENSP00000303554:Y238C	ENSP00000303554:Y238C	Y	-	2	0	PTPN9	73585326	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.799000	0.38824	2.321000	0.78463	0.529000	0.55759	TAC	PTPN9	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000169410		0.498	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	117	0.00	0	T			75798271	75798271	-1	no_errors	ENST00000306726	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	0.941	C
PTPRF	5792	genome.wustl.edu	37	1	44069291	44069291	+	Missense_Mutation	SNP	G	G	A	rs565543436		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:44069291G>A	ENST00000359947.4	+	16	2808	c.2468G>A	c.(2467-2469)cGg>cAg	p.R823Q	PTPRF_ENST00000372414.3_Missense_Mutation_p.R823Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R814Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R814Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R171Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	823	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCCAGGCCGGCCCACCATG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15934	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													43.0	45.0	45.0					1																	44069291		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2468G>A	1.37:g.44069291G>A	ENSP00000353030:p.Arg823Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.R823Q	ENST00000359947.4	37	c.2468	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.165393|2.165393	0.38217|0.38217	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.52526	.|0.66;0.66;0.66;0.66;0.66	5.03|5.03	4.07|4.07	0.47477|0.47477	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.279299	.|0.19389	.|N	.|0.115442	T|T	0.38241|0.38241	0.1033|0.1033	L|L	0.55990|0.55990	1.75|1.75	0.38043|0.38043	D|D	0.935515|0.935515	.|P;B;D;P	.|0.56521	.|0.806;0.157;0.976;0.854	.|B;B;B;B	.|0.43274	.|0.233;0.034;0.414;0.36	T|T	0.32587|0.32587	-0.9901|-0.9901	5|10	.|0.15499	.|T	.|0.54	.|.	6.285|6.285	0.21029|0.21029	0.3544:0.0:0.6456:0.0|0.3544:0.0:0.6456:0.0	.|.	.|468;171;814;823	.|Q59FI2;F2Z3B8;P10586-2;P10586	.|.;.;.;PTPRF_HUMAN	S|Q	469|823;814;823;814;171	.|ENSP00000353030:R823Q;ENSP00000398822:R814Q;ENSP00000361491:R823Q;ENSP00000361490:R814Q;ENSP00000387885:R171Q	.|ENSP00000353030:R823Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43841878|43841878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	4.952000|4.952000	0.63618|0.63618	1.163000|1.163000	0.42636|0.42636	-0.345000|-0.345000	0.07892|0.07892	GGC|CGG	PTPRF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142949		0.667	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	53	0.00	0	G			44069291	44069291	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	61989117	61989118	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:61989117_61989118insA	ENST00000474889.1	+	4	842_843	c.465_466insA	c.(466-468)aatfs	p.N156fs	PTPRG_ENST00000295874.10_Frame_Shift_Ins_p.N156fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	156	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGGCCACAGCAATGGCTCAGC	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.467dupA	3.37:g.61989119_61989119dupA	ENSP00000418112:p.Asn156fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.N155fs	ENST00000474889.1	37	c.465_466	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000144724		0.500	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	146	0.00	0	-	NM_002841		61989117	61989118	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	frame_shift_ins	40	50.00	40	INS	1.000:1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121608162	121608162	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:121608162C>T	ENST00000393386.2	+	3	693	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PTPRZ1_ENST00000449182.1_Silent_p.F94F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	94	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAACACATTCATTCATAACA	0.299																																						dbGAP											0													77.0	82.0	80.0					7																	121608162		2203	4294	6497	-	-	-	SO:0001819	synonymous_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.282C>T	7.37:g.121608162C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.F94	ENST00000393386.2	37	c.282	CCDS34740.1	7																																																																																			PTPRZ1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000106278		0.299	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	148	0.00	0	C	NM_002851		121608162	121608162	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	silent	145	28.92	59	SNP	1.000	T
PVRL1	5818	genome.wustl.edu	37	11	119535816	119535816	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:119535816C>T	ENST00000264025.3	-	6	1725	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	399					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TTGCTGTAGCCGTTGCCATAC	0.632																																						dbGAP											0													177.0	120.0	140.0					11																	119535816		2199	4295	6494	-	-	-	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1195G>A	11.37:g.119535816C>T	ENSP00000264025:p.Gly399Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G399S	ENST00000264025.3	37	c.1195	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	-	26.5	4.743000	0.89573	.	.	ENSG00000110400	ENST00000264025	T	0.20738	2.05	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.07252	-1.0782	10	0.28530	T	0.3	.	15.7712	0.78170	0.0:1.0:0.0:0.0	.	399	Q15223	PVRL1_HUMAN	S	399	ENSP00000264025:G399S	ENSP00000264025:G399S	G	-	1	0	PVRL1	119041026	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.235000	0.78143	2.108000	0.64289	0.479000	0.44913	GGC	PVRL1	-	NULL	ENSG00000110400		0.632	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	62	0.00	0	C			119535816	119535816	-1	no_errors	ENST00000264025	ensembl	human	known	69_37n	missense	9	74.29	26	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1647230	1647230	+	Missense_Mutation	SNP	C	C	T	rs183629867		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:1647230C>T	ENST00000252804.4	-	19	3912	c.3862G>A	c.(3862-3864)Gtg>Atg	p.V1288M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1288					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V1288M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCCTGAACACGTCGCTCTGC	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17678	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											82.0	93.0	89.0					2																	1647230		2130	4225	6355	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3862G>A	2.37:g.1647230C>T	ENSP00000252804:p.Val1288Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.V1288M	ENST00000252804.4	37	c.3862	CCDS46221.1	2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.15	3.560800	0.65538	.	.	ENSG00000130508	ENST00000252804	T	0.70986	-0.53	5.27	4.39	0.52855	.	0.169946	0.38897	N	0.001538	D	0.84442	0.5473	M	0.85099	2.735	0.37488	D	0.916274	D	0.89917	1.0	D	0.68353	0.957	D	0.88823	0.3300	10	0.72032	D	0.01	-39.5692	14.3929	0.66991	0.0:0.7187:0.2813:0.0	.	1288	Q92626	PXDN_HUMAN	M	1288	ENSP00000252804:V1288M	ENSP00000252804:V1288M	V	-	1	0	PXDN	1626237	1.000000	0.71417	0.996000	0.52242	0.465000	0.32709	4.770000	0.62309	1.213000	0.43380	0.563000	0.77884	GTG	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.637	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	72	0.00	0	C	XM_056455		1647230	1647230	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1652984	1652984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:1652984delG	ENST00000252804.4	-	17	2618	c.2568delC	c.(2566-2568)cccfs	p.P856fs		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	856					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.C857fs*5(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGAGAAGCAGGGGGGGTCGT	0.662																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											21.0	24.0	23.0					2																	1652984		2159	4257	6416	-	-	-	SO:0001589	frameshift_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2568delC	2.37:g.1652984delG	ENSP00000252804:p.Pro856fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Frame_Shift_Del	DEL	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.C857fs	ENST00000252804.4	37	c.2568	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	25	0.00	0	G	XM_056455		1652984	1652984	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	frame_shift_del	7	46.15	6	DEL	0.996	-
PYCR2	29920	genome.wustl.edu	37	1	226109562	226109562	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:226109562G>A	ENST00000343818.6	-	4	684	c.536C>T	c.(535-537)gCc>gTc	p.A179V	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	179					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	CCTCACATAGGCAGGCCCGCT	0.647																																						dbGAP											0													31.0	27.0	28.0					1																	226109562		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.536C>T	1.37:g.226109562G>A	ENSP00000342502:p.Ala179Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.A179V	ENST00000343818.6	37	c.536	CCDS31043.1	1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.360063	0.82353	.	.	ENSG00000143811	ENST00000343818;ENST00000316940;ENST00000316918	D	0.94280	-3.39	4.58	4.58	0.56647	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.976;0.983	D	0.98014	1.0367	10	0.87932	D	0	.	15.243	0.73485	0.0:0.0:1.0:0.0	.	179;178	Q96C36;E7EUS9	P5CR2_HUMAN;.	V	179;178;132	ENSP00000342502:A179V	ENSP00000321499:A132V	A	-	2	0	PYCR2	224176185	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	9.601000	0.98297	2.522000	0.85027	0.591000	0.81541	GCC	PYCR2	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000143811		0.647	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR2	HGNC	protein_coding	OTTHUMT00000091314.1	24	0.00	0	G	NM_013328		226109562	226109562	-1	no_errors	ENST00000343818	ensembl	human	known	69_37n	missense	12	45.45	10	SNP	1.000	A
PZP	5858	genome.wustl.edu	37	12	9321278	9321278	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:9321278delA	ENST00000261336.2	-	17	2136				PZP_ENST00000381997.2_Intron|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGATGTATCTAAAAAAAAATC	0.338																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2107+186T>-	12.37:g.9321278delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND27|Q15273|Q2NKL2|Q7M4N7	RNA	DEL	-	NULL	ENST00000261336.2	37	NULL	CCDS8600.1	12																																																																																			PZP	-	-	ENSG00000126838		0.338	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	30	0.00	0	A	NM_002864		9321278	9321278	-1	no_errors	ENST00000546116	ensembl	human	known	69_37n	rna	27	25.00	9	DEL	0.000	-
QKI	9444	genome.wustl.edu	37	6	163899920	163899920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:163899920delA	ENST00000361752.3	+	3	945	c.394delA	c.(394-396)aaafs	p.K134fs	QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	134	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AATGAGGGATAAAAAAAAGGT	0.363																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											79.0	80.0	80.0					6																	163899920		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.394delA	6.37:g.163899920delA	ENSP00000355094:p.Lys134fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,smart_KH_dom	p.K134fs	ENST00000361752.3	37	c.394	CCDS5285.1	6																																																																																			QKI	-	smart_KH_dom	ENSG00000112531		0.363	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	240	0.82	2	A	NM_006775		163899920	163899920	+1	no_errors	ENST00000361752	ensembl	human	known	69_37n	frame_shift_del	148	34.48	80	DEL	1.000	-
QKI	9444	genome.wustl.edu	37	6	163984583	163984583	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:163984583A>G	ENST00000361752.3	+	6	1317	c.766A>G	c.(766-768)Aga>Gga	p.R256G	QKI_ENST00000453779.2_Missense_Mutation_p.R256G|QKI_ENST00000275262.7_Missense_Mutation_p.R256G|QKI_ENST00000424802.3_Missense_Mutation_p.R248G|QKI_ENST00000361195.2_Missense_Mutation_p.R248G|QKI_ENST00000392127.2_Missense_Mutation_p.R256G	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	256					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCCTTTGATCAGACAAATACA	0.552																																						dbGAP											0													86.0	80.0	82.0					6																	163984583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.766A>G	6.37:g.163984583A>G	ENSP00000355094:p.Arg256Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.R256G	ENST00000361752.3	37	c.766	CCDS5285.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.29|17.29	3.351085|3.351085	0.61183|0.61183	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802	.|.	.|.	.|.	6.02|6.02	4.8|4.8	0.61643|0.61643	.|.	.|0.326549	.|0.38778	.|N	.|0.001575	T|T	0.55625|0.55625	0.1932|0.1932	L|L	0.51422|0.51422	1.61|1.61	0.51482|0.51482	D|D	0.999921|0.999921	.|P;P;P;D;D;D	.|0.71674	.|0.905;0.846;0.885;0.998;0.975;0.998	.|P;B;B;D;P;D	.|0.65684	.|0.553;0.351;0.389;0.937;0.736;0.937	T|T	0.51741|0.51741	-0.8667|-0.8667	5|9	.|0.16420	.|T	.|0.52	-2.4799|-2.4799	13.0205|13.0205	0.58784|0.58784	0.8657:0.1342:0.0:0.0|0.8657:0.1342:0.0:0.0	.|.	.|248;256;248;256;256;256	.|Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.|.;QKI_HUMAN;.;.;.;.	R|G	152;89|256;256;256;256;248;248	.|.	.|ENSP00000275262:R256G	Q|R	+|+	2|1	0|2	QKI|QKI	163904573|163904573	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.331000|4.331000	0.59273|0.59273	2.311000|2.311000	0.77944|0.77944	0.533000|0.533000	0.62120|0.62120	CAG|AGA	QKI	-	NULL	ENSG00000112531		0.552	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	141	0.00	0	A	NM_006775		163984583	163984583	+1	no_errors	ENST00000361752	ensembl	human	known	69_37n	missense	108	32.92	53	SNP	1.000	G
R3HDM1	23518	genome.wustl.edu	37	2	136389293	136389293	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:136389293G>T	ENST00000264160.4	+	8	873	c.503G>T	c.(502-504)aGa>aTa	p.R168I	R3HDM1_ENST00000410054.1_Missense_Mutation_p.R112I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R168I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R124I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R124I	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	168	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTCAGGGACAGAATGATGCTG	0.323																																						dbGAP											0													96.0	96.0	96.0					2																	136389293		2202	4300	6502	-	-	-	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.503G>T	2.37:g.136389293G>T	ENSP00000264160:p.Arg168Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E151*	ENST00000264160.4	37	c.451	CCDS2177.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.53|18.53|18.53	3.644989|3.644989|3.644989	0.67358|0.67358|0.67358	.|.|.	.|.|.	ENSG00000048991|ENSG00000048991|ENSG00000048991	ENST00000456040|ENST00000436436|ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|.|T;T;T;T;T	.|.|0.51325	.|.|0.71;0.71;0.71;0.71;0.71	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|Single-stranded nucleic acid binding R3H (2);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|T|T	.|0.77928|0.77928	.|0.4204|0.4204	M|M|M	0.93106|0.93106|0.93106	3.38|3.38|3.38	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.71674	.|.|0.998;0.992;0.992	.|.|D;D;D	.|.|0.85130	.|.|0.997;0.982;0.982	.|T|T	.|0.82699|0.82699	.|-0.0328|-0.0328	.|6|10	.|0.66056|0.87932	.|D|D	.|0.02|0	-14.4076|-14.4076|-14.4076	19.9405|19.9405|19.9405	0.97159|0.97159|0.97159	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|168;112;168	.|.|E9PBB4;E9PG42;Q15032	.|.|.;.;R3HD1_HUMAN	X|H|I	151|59|124;124;168;124;112;168	.|.|ENSP00000386457:R124I;ENSP00000264160:R168I;ENSP00000331396:R124I;ENSP00000386877:R112I;ENSP00000387010:R168I	.|ENSP00000416082:Q59H|ENSP00000264160:R168I	E|Q|R	+|+|+	1|3|2	0|2|0	R3HDM1|R3HDM1|R3HDM1	136105763|136105763|136105763	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	9.869000|9.869000|9.869000	0.99810|0.99810|0.99810	2.716000|2.716000|2.716000	0.92895|0.92895|0.92895	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|CAG|AGA	R3HDM1	-	smart_R3H_ss-bd,pfscan_R3H_ss-bd	ENSG00000048991		0.323	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	101	0.00	0	G	NM_015361		136389293	136389293	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456040	ensembl	human	novel	69_37n	nonsense	75	31.19	34	SNP	1.000	T
RAB11FIP1	80223	genome.wustl.edu	37	8	37729658	37729660	+	In_Frame_Del	DEL	GGA	GGA	-	rs112232259		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:37729658_37729660delGGA	ENST00000330843.4	-	4	2672_2674	c.2660_2662delTCC	c.(2659-2664)ctcccc>ccc	p.L887del	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	887					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCCTGGGAGGGGAGGAGGAGGTG	0.606																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2660_2662delTCC	8.37:g.37729664_37729666delGGA	ENSP00000331342:p.Leu887del	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	In_Frame_Del	DEL	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L887in_frame_del	ENST00000330843.4	37	c.2662_2660	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.606	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	81	0.00	0	GGA	NM_025151		37729658	37729660	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	in_frame_del	57	34.04	32	DEL	0.000:0.000:0.000	-
RAB24	53917	genome.wustl.edu	37	5	176729805	176729805	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:176729805C>A	ENST00000303251.6	-	3	632	c.213G>T	c.(211-213)gaG>gaT	p.E71D	RAB24_ENST00000393611.2_Missense_Mutation_p.E71D|RAB24_ENST00000303270.6_Missense_Mutation_p.E42D|PRELID1_ENST00000303204.4_5'Flank|PRELID1_ENST00000503216.1_5'Flank	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	71					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACTCATGGCCTCATAGCGCT	0.542																																						dbGAP											0													100.0	95.0	97.0					5																	176729805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.213G>T	5.37:g.176729805C>A	ENSP00000304376:p.Glu71Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Z7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E71D	ENST00000303251.6	37	c.213	CCDS34300.1	5	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562467	0.45694	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.76709	-1.04;-1.04;-1.04	5.49	1.69	0.24217	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.61924	0.2386	N	0.21142	0.635	0.80722	D	1	B;B	0.25904	0.085;0.137	B;B	0.25506	0.05;0.061	T	0.56517	-0.7966	10	0.87932	D	0	1.7456	8.1123	0.30922	0.0:0.5988:0.0:0.4012	.	71;42	Q969Q5;F8W8H5	RAB24_HUMAN;.	D	71;71;42	ENSP00000377235:E71D;ENSP00000304376:E71D;ENSP00000302085:E42D	ENSP00000304376:E71D	E	-	3	2	RAB24	176662411	0.873000	0.30073	0.999000	0.59377	0.991000	0.79684	-0.055000	0.11807	0.272000	0.22027	0.555000	0.69702	GAG	RAB24	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000169228		0.542	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB24	HGNC	protein_coding	OTTHUMT00000253416.1	104	0.00	0	C	NM_130781		176729805	176729805	-1	no_errors	ENST00000303251	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	0.999	A
RAB3IP	117177	genome.wustl.edu	37	12	70206762	70206762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:70206762delT	ENST00000247833.7	+	10	1625	c.1249delT	c.(1249-1251)tttfs	p.F418fs	RAB3IP_ENST00000325555.9_Frame_Shift_Del_p.F212fs|AC025263.3_ENST00000550437.1_Frame_Shift_Del_p.F59fs|RAB3IP_ENST00000550847.1_Frame_Shift_Del_p.F125fs|RAB3IP_ENST00000362025.5_Frame_Shift_Del_p.T399fs|RAB3IP_ENST00000553099.1_Frame_Shift_Del_p.F212fs|RAB3IP_ENST00000550536.1_Frame_Shift_Del_p.F434fs|RAB3IP_ENST00000551641.1_Frame_Shift_Del_p.F212fs|RAB3IP_ENST00000483530.2_Frame_Shift_Del_p.T383fs					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGTATGTAACTTTTTTACATA	0.348																																						dbGAP											0													142.0	133.0	136.0					12																	70206762		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1249delT	12.37:g.70206762delT	ENSP00000247833:p.Phe418fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Sec2p	p.F434fs	ENST00000247833.7	37	c.1297	CCDS8995.1	12																																																																																			RAB3IP	-	NULL	ENSG00000127328		0.348	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	HGNC	protein_coding	OTTHUMT00000280671.2	204	0.00	0	T	NM_022456		70206762	70206762	+1	no_errors	ENST00000550536	ensembl	human	known	69_37n	frame_shift_del	125	18.30	28	DEL	1.000	-
RAD51AP2	729475	genome.wustl.edu	37	2	17698043	17698043	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:17698043A>T	ENST00000399080.2	-	1	1663	c.1640T>A	c.(1639-1641)aTt>aAt	p.I547N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	547										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TAGATTTTGAATACCAATTAT	0.234																																						dbGAP											0													17.0	17.0	17.0					2																	17698043		1754	3982	5736	-	-	-	SO:0001583	missense	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1640T>A	2.37:g.17698043A>T	ENSP00000382030:p.Ile547Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.I547N	ENST00000399080.2	37	c.1640	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	A	8.087	0.773566	0.16051	.	.	ENSG00000214842	ENST00000399080	T	0.28895	1.59	4.4	3.21	0.36854	.	.	.	.	.	T	0.21145	0.0509	N	0.19112	0.55	0.24938	N	0.991879	P	0.36944	0.574	B	0.41813	0.367	T	0.18366	-1.0339	9	0.72032	D	0.01	0.11	2.9358	0.05814	0.6222:0.0:0.1814:0.1964	.	547	Q09MP3	R51A2_HUMAN	N	547	ENSP00000382030:I547N	ENSP00000382030:I547N	I	-	2	0	RAD51AP2	17561524	0.001000	0.12720	0.231000	0.23993	0.240000	0.25518	-0.203000	0.09438	0.762000	0.33152	0.460000	0.39030	ATT	RAD51AP2	-	NULL	ENSG00000214842		0.234	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	72	0.00	0	A	NM_001099218		17698043	17698043	-1	no_errors	ENST00000399080	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	0.910	T
RAD51B	5890	genome.wustl.edu	37	14	68353916	68353916	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:68353916A>G	ENST00000487270.1	+	7	799	c.751A>G	c.(751-753)Atc>Gtc	p.I251V	RAD51B_ENST00000488612.1_Missense_Mutation_p.I251V|RAD51B_ENST00000390683.3_Missense_Mutation_p.I251V|RAD51B_ENST00000487861.1_Missense_Mutation_p.I251V|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.I251V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	251					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGAGTTTTCAATCCCAGTAAG	0.323								Direct reversal of damage																														dbGAP											0													58.0	59.0	59.0					14																	68353916		2203	4299	6502	-	-	-	SO:0001583	missense	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.751A>G	14.37:g.68353916A>G	ENSP00000419471:p.Ile251Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.I251V	ENST00000487270.1	37	c.751	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874641	0.51695	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.9	3.52	0.40303	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.067615	0.56097	N	0.000036	T	0.22126	0.0533	L	0.28274	0.84	0.37377	D	0.911885	B;B;B;B;B;B	0.31879	0.344;0.006;0.072;0.128;0.092;0.004	B;B;B;B;B;B	0.35655	0.207;0.028;0.065;0.102;0.041;0.012	T	0.12066	-1.0562	10	0.02654	T	1	-23.2445	9.5543	0.39328	0.8732:0.0:0.1268:0.0	.	251;251;251;251;251;251	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	V	251	ENSP00000419881:I251V;ENSP00000418859:I251V;ENSP00000419471:I251V;ENSP00000420061:I251V;ENSP00000375101:I251V	ENSP00000343531:I251V	I	+	1	0	RAD51B	67423669	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.937000	0.56575	0.477000	0.27464	0.528000	0.53228	ATC	RAD51B	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	ENSG00000182185		0.323	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	121	0.00	0	A			68353916	68353916	+1	no_errors	ENST00000487270	ensembl	human	known	69_37n	missense	74	24.49	24	SNP	1.000	G
RALA	5898	genome.wustl.edu	37	7	39730108	39730108	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:39730108A>G	ENST00000005257.2	+	3	622	c.242A>G	c.(241-243)aAc>aGc	p.N81S	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	81					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						ATTAGAGACAACTACTTCCGA	0.473																																						dbGAP											0													94.0	94.0	94.0					7																	39730108		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.242A>G	7.37:g.39730108A>G	ENSP00000005257:p.Asn81Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N81S	ENST00000005257.2	37	c.242	CCDS5460.1	7	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016746	0.54468	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	T;T	0.78707	-1.2;-0.33	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.082915	0.85682	D	0.000000	T	0.61009	0.2313	N	0.04820	-0.15	0.80722	D	1	B	0.21147	0.052	B	0.20767	0.031	T	0.61307	-0.7089	10	0.59425	D	0.04	.	14.9714	0.71238	1.0:0.0:0.0:0.0	.	81	P11233	RALA_HUMAN	S	81	ENSP00000005257:N81S;ENSP00000388975:N81S	ENSP00000005257:N81S	N	+	2	0	RALA	39696633	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.087000	0.94110	2.126000	0.65437	0.383000	0.25322	AAC	RALA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000006451		0.473	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2	93	0.00	0	A	NM_005402		39730108	39730108	+1	no_errors	ENST00000005257	ensembl	human	known	69_37n	missense	55	49.54	54	SNP	1.000	G
RALGAPB	57148	genome.wustl.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:37146233delC	ENST00000262879.6	+	8	1420	c.1136delC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.T157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGTACCACCCCCCCACAT	0.448																																						dbGAP											1	Insertion - Frameshift(1)	lung(1)											134.0	123.0	126.0					20																	37146233		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1136delC	20.37:g.37146233delC	ENSP00000262879:p.Thr379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.P381fs	ENST00000262879.6	37	c.1136	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	313	0.00	0	C	NM_020336		37146233	37146233	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	frame_shift_del	192	27.14	73	DEL	1.000	-
RALGAPB	57148	genome.wustl.edu	37	20	37150217	37150217	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:37150217A>G	ENST00000262879.6	+	10	1779	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	RALGAPB_ENST00000397042.3_Missense_Mutation_p.M499V|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397040.1_Missense_Mutation_p.M499V|RALGAPB_ENST00000397038.1_Missense_Mutation_p.M277V			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	499					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCCAATCCTATGTTTGATGC	0.448																																						dbGAP											0													173.0	148.0	157.0					20																	37150217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1495A>G	20.37:g.37150217A>G	ENSP00000262879:p.Met499Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.M499V	ENST00000262879.6	37	c.1495	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	A	2.227	-0.377112	0.05000	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	3.7	0.42460	.	0.182761	0.64402	N	0.000002	T	0.31389	0.0795	N	0.19112	0.55	0.38347	D	0.944223	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.10451	-1.0629	9	0.27785	T	0.31	.	4.6184	0.12438	0.6556:0.0:0.2142:0.1302	.	327;499;499;499	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	V	499;499;499;277;499;327	.	ENSP00000262879:M499V	M	+	1	0	RALGAPB	36583631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.875000	0.48491	0.516000	0.28340	0.459000	0.35465	ATG	RALGAPB	-	NULL	ENSG00000170471		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	315	0.00	0	A	NM_020336		37150217	37150217	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	262	19.08	62	SNP	1.000	G
RANBP2	5903	genome.wustl.edu	37	2	109384566	109384566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:109384566delT	ENST00000283195.6	+	20	7697	c.7571delT	c.(7570-7572)attfs	p.I2524fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2524					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTAAAAGCATTTTTAGTAGT	0.368																																						dbGAP											0													183.0	206.0	198.0					2																	109384566		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7571delT	2.37:g.109384566delT	ENSP00000283195:p.Ile2524fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.F2525fs	ENST00000283195.6	37	c.7571	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	743	0.00	0	T	NM_006267		109384566	109384566	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	frame_shift_del	656	17.84	144	DEL	1.000	-
RAP1GAP	5909	genome.wustl.edu	37	1	21926032	21926032	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:21926032G>A	ENST00000374765.4	-	21	1931	c.1731C>T	c.(1729-1731)agC>agT	p.S577S	RAP1GAP_ENST00000542643.2_Silent_p.S603S|RAP1GAP_ENST00000374763.2_Silent_p.S662S|RAP1GAP_ENST00000374761.2_Silent_p.S608S|RAP1GAP_ENST00000290101.4_Silent_p.S641S	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	577					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCCACCACGCTGGCGAAGC	0.662																																						dbGAP											0													70.0	66.0	67.0					1																	21926032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1731C>T	1.37:g.21926032G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	pfam_Rap_GAP,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP	p.S641	ENST00000374765.4	37	c.1923	CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508325	0.27036	.	.	ENSG00000076864	ENST00000374758	.	.	.	4.13	2.19	0.27852	.	.	.	.	.	T	0.63768	0.2539	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63019	-0.6730	5	0.87932	D	0	-19.5147	8.4984	0.33144	0.1976:0.0:0.8024:0.0	.	.	.	.	C	661	.	ENSP00000363890:R661C	R	-	1	0	RAP1GAP	21798619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.186000	0.42593	0.321000	0.23259	0.561000	0.74099	CGT	RAP1GAP	-	NULL	ENSG00000076864		0.662	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2	40	0.00	0	G	NM_002885		21926032	21926032	-1	no_errors	ENST00000290101	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	1.000	A
RASAL1	8437	genome.wustl.edu	37	12	113545943	113545943	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:113545943G>A	ENST00000261729.5	-	15	1774	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R487W|RASAL1_ENST00000546530.1_Missense_Mutation_p.R488W|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R487W			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	487	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGTTGGTCCCGAAGGTCAAAC	0.562																																						dbGAP											0													69.0	60.0	63.0					12																	113545943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1459C>T	12.37:g.113545943G>A	ENSP00000261729:p.Arg487Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.R488W	ENST00000261729.5	37	c.1462	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479291	0.63849	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.0	3.1	0.35709	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.110844	0.64402	N	0.000017	D	0.87014	0.6072	M	0.79805	2.47	0.52099	D	0.999949	B;D;B;P;P;P;P	0.76494	0.403;0.999;0.35;0.682;0.573;0.823;0.631	B;D;B;B;B;P;B	0.68943	0.126;0.961;0.077;0.319;0.239;0.466;0.135	D	0.85031	0.0917	10	0.66056	D	0.02	.	6.6804	0.23117	0.0845:0.0:0.6012:0.3143	.	487;487;487;500;488;487;487	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	W	488;487;487;487	ENSP00000450244:R488W;ENSP00000261729:R487W;ENSP00000395920:R487W;ENSP00000448510:R487W	ENSP00000261729:R487W	R	-	1	2	RASAL1	112030326	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	1.616000	0.36933	0.468000	0.27243	0.555000	0.69702	CGG	RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000111344		0.562	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	31	0.00	0	G	NM_004658		113545943	113545943	-1	no_errors	ENST00000546530	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
RASSF5	83593	genome.wustl.edu	37	1	206758045	206758045	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:206758045C>T	ENST00000355294.4	+	4	1045				RASSF5_ENST00000491368.1_Intron|RASSF5_ENST00000304534.8_Intron|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAACCAGACCGTTCCCTTCC	0.547																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													59.0	54.0	55.0					1																	206758045		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.988+29C>T	1.37:g.206758045C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	RNA	SNP	-	NULL	ENST00000355294.4	37	NULL	CCDS30998.1	1																																																																																			RASSF5	-	-	ENSG00000136653		0.547	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	58	0.00	0	C	NM_031437		206758045	206758045	+1	no_errors	ENST00000481486	ensembl	human	putative	69_37n	rna	78	11.36	10	SNP	0.000	T
RAX	30062	genome.wustl.edu	37	18	56939731	56939731	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:56939731C>T	ENST00000334889.3	-	2	591	c.405G>A	c.(403-405)aaG>aaA	p.K135K	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	135					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TCCGCCGATGCTTTTTCTTGG	0.667																																					GBM(150;770 1898 17679 24325 37807)	dbGAP											0													125.0	124.0	124.0					18																	56939731		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.405G>A	18.37:g.56939731C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V11	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.K135	ENST00000334889.3	37	c.405	CCDS11972.1	18																																																																																			RAX	-	superfamily_Homeodomain-like,pfscan_Homeodomain	ENSG00000134438		0.667	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAX	HGNC	protein_coding	OTTHUMT00000256128.2	55	0.00	0	C			56939731	56939731	-1	no_errors	ENST00000334889	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.998	T
RBBP6	5930	genome.wustl.edu	37	16	24578810	24578810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:24578810C>T	ENST00000319715.4	+	15	2368	c.1936C>T	c.(1936-1938)Cga>Tga	p.R646*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R646*|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	646					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAGAGAGCAGCGACGACTAAA	0.368																																						dbGAP											0													102.0	104.0	103.0					16																	24578810		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1936C>T	16.37:g.24578810C>T	ENSP00000317872:p.Arg646*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.R646*	ENST00000319715.4	37	c.1936	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.423468	0.98806	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	.	.	.	5.9	4.87	0.63330	.	0.000000	0.46758	D	0.000274	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9752	17.7908	0.88552	0.1304:0.8696:0.0:0.0	.	.	.	.	X	646	.	ENSP00000317872:R646X	R	+	1	2	RBBP6	24486311	0.997000	0.39634	0.912000	0.35992	0.991000	0.79684	3.754000	0.55189	2.793000	0.96121	0.563000	0.77884	CGA	RBBP6	-	NULL	ENSG00000122257		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	256	0.00	0	C	NM_006910		24578810	24578810	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	nonsense	154	38.98	99	SNP	0.994	T
RBFOX2	23543	genome.wustl.edu	37	22	36157249	36157249	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:36157249T>C	ENST00000438146.2	-	9	963	c.964A>G	c.(964-966)Agt>Ggt	p.S322G	RBFOX2_ENST00000405409.2_Splice_Site_p.I252V|RBFOX2_ENST00000359369.4_Splice_Site_p.I231V|RBFOX2_ENST00000414461.2_Splice_Site_p.S251G|RBFOX2_ENST00000262829.7_Splice_Site_p.I233V|RBFOX2_ENST00000397303.2_Splice_Site_p.I232V|RBFOX2_ENST00000449924.2_Splice_Site_p.S251G|RBFOX2_ENST00000416721.2_Splice_Site_p.I251V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	261	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GGCTACTTACTGATTAAAGGA	0.423																																						dbGAP											0													104.0	82.0	90.0					22																	36157249		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.964+1A>G	22.37:g.36157249T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.S322G	ENST00000438146.2	37	c.964	CCDS43013.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.736|4.736	0.136838|0.136838	0.09032|0.09032	.|.	.|.	ENSG00000100320|ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721|ENST00000414461;ENST00000449924;ENST00000438146	T;T;T;T|T;T;T	0.35605|0.50548	1.91;1.33;1.67;1.3|1.34;0.8;0.74	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.331948	.|0.29451	.|N	.|0.012115	T|T	0.41949|0.41949	0.1181|0.1181	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B;B;B|B;B;B;P	0.09022|0.42248	0.001;0.0;0.0;0.002;0.002|0.029;0.012;0.001;0.774	B;B;B;B;B|B;B;B;B	0.15484|0.39465	0.004;0.002;0.002;0.013;0.009|0.015;0.015;0.005;0.3	T|T	0.28554|0.28554	-1.0040|-1.0040	7|8	.|.	.|.	.|.	.|.	15.245|15.245	0.73499|0.73499	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	231;233;251;252;232|321;322;251;251	B0QYY4;O43251-3;O43251-5;O43251-9;B0QYV1|O43251-6;O43251-8;O43251-10;O43251-4	.;.;.;.;.|.;.;.;.	V|G	252;261;233;232;231;251|251;251;322	ENSP00000384944:I252V;ENSP00000380470:I232V;ENSP00000352328:I231V;ENSP00000405651:I251V|ENSP00000407855:S251G;ENSP00000391670:S251G;ENSP00000413035:S322G	.|.	I|S	-|-	1|1	0|0	RBFOX2|RBFOX2	34487195|34487195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.926000|5.926000	0.70070|0.70070	1.996000|1.996000	0.58369|0.58369	0.460000|0.460000	0.39030|0.39030	ATT|AGT	RBFOX2	-	pirsf_RNA-bd_Fox-1	ENSG00000100320		0.423	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	RBFOX2	HGNC	protein_coding	OTTHUMT00000319299.3	107	0.00	0	T		Missense_Mutation	36157249	36157249	-1	no_errors	ENST00000438146	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	1.000	C
RBM26	64062	genome.wustl.edu	37	13	79940836	79940836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:79940836delG	ENST00000438737.2	-	7	1507	c.1067delC	c.(1066-1068)ccafs	p.P357fs	RBM26_ENST00000438724.1_Frame_Shift_Del_p.P357fs|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Frame_Shift_Del_p.P357fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	357	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATTCACAGGTGGGGGTGTAAG	0.537																																						dbGAP											0													42.0	46.0	44.0					13																	79940836		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1067delC	13.37:g.79940836delG	ENSP00000387531:p.Pro357fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Del	DEL	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.P356fs	ENST00000438737.2	37	c.1067		13																																																																																			RBM26	-	NULL	ENSG00000139746		0.537	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	35	0.00	0	G	NM_022118		79940836	79940836	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	frame_shift_del	47	19.05	12	DEL	1.000	-
RBM33	155435	genome.wustl.edu	37	7	155531074	155531074	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:155531074A>C	ENST00000401878.3	+	11	1912	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTTCTGCCCACACACACACA	0.532																																						dbGAP											0													41.0	47.0	45.0					7																	155531074		1997	4165	6162	-	-	-	SO:0001583	missense	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1714A>C	7.37:g.155531074A>C	ENSP00000384160:p.Thr572Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.T572P	ENST00000401878.3	37	c.1714	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	A	8.801	0.932915	0.18131	.	.	ENSG00000184863	ENST00000401878	T	0.44482	0.92	5.15	-1.54	0.08584	.	0.206045	0.23125	U	0.051656	T	0.23289	0.0563	L	0.38175	1.15	0.42417	D	0.99262	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.06570	-1.0819	9	.	.	.	.	3.1802	0.06582	0.5523:0.1119:0.2255:0.1103	.	289;572	B4DVQ2;Q96EV2	.;RBM33_HUMAN	P	572	ENSP00000384160:T572P	.	T	+	1	0	RBM33	155223835	0.000000	0.05858	0.044000	0.18714	0.720000	0.41350	-0.517000	0.06275	-0.548000	0.06199	0.460000	0.39030	ACA	RBM33	-	NULL	ENSG00000184863		0.532	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	150	0.00	0	A	NM_001008408		155531074	155531074	+1	no_errors	ENST00000401878	ensembl	human	known	69_37n	missense	123	20.38	32	SNP	0.058	C
RBMS3	27303	genome.wustl.edu	37	3	29910435	29910435	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:29910435C>T	ENST00000383767.2	+	7	1060	c.724C>T	c.(724-726)Cct>Tct	p.P242S	RBMS3_ENST00000452462.1_Missense_Mutation_p.P242S|RBMS3_ENST00000456853.1_Missense_Mutation_p.P242S|RBMS3_ENST00000273139.9_Missense_Mutation_p.P242S|RBMS3_ENST00000396583.3_Missense_Mutation_p.P242S|RBMS3_ENST00000434693.2_Missense_Mutation_p.P241S|RBMS3_ENST00000383766.2_Missense_Mutation_p.P241S|RBMS3_ENST00000445033.1_Missense_Mutation_p.P242S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	242					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GAATGGGAGGCCTTGGCCCAG	0.498																																						dbGAP											0													57.0	51.0	53.0					3																	29910435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.724C>T	3.37:g.29910435C>T	ENSP00000373277:p.Pro242Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom	p.P242S	ENST00000383767.2	37	c.724	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726679	0.48833	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.73789	-0.78;1.68;-0.78;-0.78;-0.78;1.74;-0.78;1.7	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.15719	0.008;0.014;0.006;0.008	B;B;B;B	0.17979	0.013;0.008;0.02;0.005	T	0.59768	-0.7392	9	.	.	.	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	242;242;241;242	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	S	241;242;242;242;242;241;242;242	ENSP00000395592:P241S;ENSP00000379828:P242S;ENSP00000373277:P242S;ENSP00000391934:P242S;ENSP00000273139:P242S;ENSP00000373276:P241S;ENSP00000397926:P242S;ENSP00000400519:P242S	.	P	+	1	0	RBMS3	29885439	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.999000	0.70665	2.781000	0.95711	0.591000	0.81541	CCT	RBMS3	-	NULL	ENSG00000144642		0.498	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	39	0.00	0	C	NM_001003792		29910435	29910435	+1	no_errors	ENST00000383767	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	1.000	T
REEP5	7905	genome.wustl.edu	37	5	112214534	112214537	+	Splice_Site	DEL	TGTT	TGTT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:112214534_112214537delTGTT	ENST00000379638.4	-	5	869		c.e5-2		REEP5_ENST00000513339.1_Splice_Site|CTC-487M23.8_ENST00000506997.1_Intron|CTC-487M23.8_ENST00000512790.1_Intron|REEP5_ENST00000545426.1_Splice_Site	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CTTTCTTCGCTGTTTGTTTGTTAG	0.417																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.521-2AACA>-	5.37:g.112214542_112214545delTGTT		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Splice_Site	DEL	-	e5-2	ENST00000379638.4	37	c.521-5_521-2	CCDS4109.2	5																																																																																			REEP5	-	-	ENSG00000129625		0.417	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP5	HGNC	protein_coding	OTTHUMT00000250739.2	196	0.00	0	TGTT	NM_005669	Intron	112214534	112214537	-1	no_errors	ENST00000379638	ensembl	human	known	69_37n	splice_site_del	82	40.15	55	DEL	0.810:0.586:0.513:0.489	-
RELN	5649	genome.wustl.edu	37	7	103216114	103216114	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:103216114T>C	ENST00000428762.1	-	29	4343	c.4184A>G	c.(4183-4185)cAg>cGg	p.Q1395R	RELN_ENST00000343529.5_Missense_Mutation_p.Q1395R|RELN_ENST00000424685.2_Missense_Mutation_p.Q1395R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1395					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACGTTTTTCTGTGAGCTGCT	0.463																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													156.0	121.0	133.0					7																	103216114		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4184A>G	7.37:g.103216114T>C	ENSP00000392423:p.Gln1395Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Q1395R	ENST00000428762.1	37	c.4184	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541582	0.45280	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.74	5.74	0.90152	.	0.194122	0.47093	D	0.000258	T	0.17408	0.0418	N	0.22421	0.69	0.26310	N	0.977835	B;B	0.24823	0.06;0.112	B;B	0.23574	0.047;0.024	T	0.15492	-1.0435	10	0.25751	T	0.34	.	11.4299	0.50034	0.1346:0.0:0.0:0.8654	.	1395;1395	P78509-2;P78509	.;RELN_HUMAN	R	1395	ENSP00000392423:Q1395R;ENSP00000345694:Q1395R;ENSP00000388446:Q1395R	ENSP00000345694:Q1395R	Q	-	2	0	RELN	103003350	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.603000	0.61105	2.317000	0.78254	0.460000	0.39030	CAG	RELN	-	superfamily_Growth_fac_rcpt	ENSG00000189056		0.463	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	173	0.00	0	T	NM_005045		103216114	103216114	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	126	17.11	26	SNP	1.000	C
REXO2	25996	genome.wustl.edu	37	11	114320750	114320750	+	3'UTR	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:114320750delT	ENST00000265881.5	+	0	910				REXO2_ENST00000539754.1_3'UTR|REXO2_ENST00000538791.1_3'UTR|REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000544507.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2						nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CTTCTGGTGGTTTTTTTTTCT	0.423																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.*53T>-	11.37:g.114320750delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	RNA	DEL	-	NULL	ENST00000265881.5	37	NULL	CCDS8371.1	11																																																																																			REXO2	-	-	ENSG00000076043		0.423	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	170	0.58	1	T	NM_015523		114320750	114320750	+1	no_errors	ENST00000544507	ensembl	human	putative	69_37n	rna	46	53.21	58	DEL	0.000	-
RFC1	5981	genome.wustl.edu	37	4	39310304	39310304	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:39310304G>A	ENST00000381897.1	-	13	1970	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	RFC1_ENST00000349703.2_Missense_Mutation_p.R613C	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	613			R -> L (in dbSNP:rs1057747). {ECO:0000269|PubMed:7914507, ECO:0000269|PubMed:8512577, ECO:0000269|Ref.4}.		DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGGAGCCAGCGTAGGAGTTTG	0.423																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													167.0	173.0	171.0					4																	39310304		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1837C>T	4.37:g.39310304G>A	ENSP00000371321:p.Arg613Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.R613C	ENST00000381897.1	37	c.1837	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658015	0.88154	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.18502	2.21;2.21	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.77557	0.786;0.99	T	0.06180	-1.0841	10	0.39692	T	0.17	-9.6907	15.0688	0.72017	0.0:0.0:0.8582:0.1418	.	613;613	P35251;P35251-2	RFC1_HUMAN;.	C	613	ENSP00000371321:R613C;ENSP00000261424:R613C	ENSP00000261424:R613C	R	-	1	0	RFC1	38986699	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	6.127000	0.71642	2.808000	0.96608	0.655000	0.94253	CGC	RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.423	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	383	0.00	0	G	NM_002913		39310304	39310304	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	312	20.61	81	SNP	0.998	A
RFX5	5993	genome.wustl.edu	37	1	151314915	151314915	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:151314915C>T	ENST00000290524.4	-	11	1776	c.1598G>A	c.(1597-1599)gGt>gAt	p.G533D	RFX5_ENST00000478564.1_5'Flank|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.G533D|RFX5_ENST00000452513.2_Missense_Mutation_p.G493D|RFX5_ENST00000368870.2_Missense_Mutation_p.G533D	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	533					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTCCCTGACCCTGGGCAAG	0.572																																						dbGAP											0													103.0	108.0	107.0					1																	151314915		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1598G>A	1.37:g.151314915C>T	ENSP00000290524:p.Gly533Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.G533D	ENST00000290524.4	37	c.1598	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678643	0.29783	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.47	1.44	0.22558	.	0.732715	0.12958	N	0.425271	T	0.09069	0.0224	L	0.38531	1.155	0.23320	N	0.997911	B;B	0.13145	0.003;0.007	B;B	0.12837	0.008;0.007	T	0.31503	-0.9941	10	0.38643	T	0.18	-2.0933	3.0348	0.06118	0.1451:0.56:0.1402:0.1547	.	493;533	B7Z848;P48382	.;RFX5_HUMAN	D	533;533;533;493;533	ENSP00000290524:G533D;ENSP00000357864:G533D;ENSP00000389130:G533D;ENSP00000398388:G493D;ENSP00000376502:G533D	ENSP00000290524:G533D	G	-	2	0	RFX5	149581539	0.987000	0.35691	0.618000	0.29105	0.849000	0.48306	0.579000	0.23788	0.113000	0.18004	-0.218000	0.12543	GGT	RFX5	-	NULL	ENSG00000143390		0.572	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	303	0.00	0	C	NM_000449		151314915	151314915	-1	no_errors	ENST00000290524	ensembl	human	known	69_37n	missense	345	13.93	56	SNP	0.571	T
RGR	5995	genome.wustl.edu	37	10	86018398	86018398	+	3'UTR	SNP	C	C	A	rs115251643		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:86018398C>A	ENST00000359452.4	+	0	929				RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor						chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAAGTGAGCCTGCCACCCTG	0.617																																					NSCLC(15;204 545 5889 6385 32445)	dbGAP											0													63.0	52.0	56.0					10																	86018398		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.*3C>A	10.37:g.86018398C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK7|Q96FC5	RNA	SNP	-	NULL	ENST00000359452.4	37	NULL	CCDS7374.1	10																																																																																			RGR	-	-	ENSG00000148604		0.617	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049116.1	47	0.00	0	C	NM_002921		86018398	86018398	+1	no_errors	ENST00000479725	ensembl	human	known	69_37n	rna	18	25.00	6	SNP	0.094	A
RGS6	9628	genome.wustl.edu	37	14	73002973	73002973	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:73002973C>T	ENST00000553530.1	+	16	1565	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	RGS6_ENST00000404301.2_Missense_Mutation_p.A453V|RGS6_ENST00000343854.6_Missense_Mutation_p.A416V|RGS6_ENST00000407322.4_Missense_Mutation_p.A453V|RGS6_ENST00000402788.2_Missense_Mutation_p.A453V|RGS6_ENST00000553525.1_Missense_Mutation_p.A453V|RGS6_ENST00000554782.1_Missense_Mutation_p.A314V|RGS6_ENST00000406236.4_Missense_Mutation_p.A453V|RGS6_ENST00000555571.1_Missense_Mutation_p.A453V|RGS6_ENST00000355512.6_Missense_Mutation_p.A453V|RGS6_ENST00000434263.2_Missense_Mutation_p.A384V|RGS6_ENST00000556437.1_Missense_Mutation_p.A453V	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	453					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTGCTGCTGGCCAAGAAGAAG	0.512																																					Ovarian(143;1926 2468 21071 48641)	dbGAP											0													117.0	108.0	111.0					14																	73002973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1358C>T	14.37:g.73002973C>T	ENSP00000452331:p.Ala453Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.A453V	ENST00000553530.1	37	c.1358	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626329	0.66901	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.34275	1.56;1.37;1.37;1.56;1.42;1.56;1.57;1.56;1.37;1.39;1.51;1.56	5.43	5.43	0.79202	.	1.747070	0.03008	N	0.149092	T	0.45895	0.1365	M	0.70903	2.155	0.58432	D	0.999993	P;B;P;B	0.41102	0.738;0.008;0.602;0.079	B;B;B;B	0.38194	0.267;0.015;0.198;0.025	T	0.47086	-0.9144	10	0.51188	T	0.08	-9.9201	12.5666	0.56314	0.0:0.9238:0.0:0.0762	.	384;453;458;453	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	V	453;453;453;453;453;453;453;453;453;416;425;384;314;314	ENSP00000451030:A453V;ENSP00000450936:A453V;ENSP00000452331:A453V;ENSP00000451855:A453V;ENSP00000347699:A453V;ENSP00000385243:A453V;ENSP00000384218:A453V;ENSP00000384612:A453V;ENSP00000383953:A453V;ENSP00000341199:A416V;ENSP00000412144:A384V;ENSP00000451912:A314V	ENSP00000341199:A416V	A	+	2	0	RGS6	72072726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.988000	0.70579	2.558000	0.86282	0.561000	0.74099	GCC	RGS6	-	NULL	ENSG00000182732		0.512	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	148	0.00	0	C			73002973	73002973	+1	no_errors	ENST00000553525	ensembl	human	known	69_37n	missense	100	23.08	30	SNP	1.000	T
RHOBTB1	9886	genome.wustl.edu	37	10	62631222	62631222	+	3'UTR	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:62631222delT	ENST00000337910.5	-	0	2446				RHOBTB1_ENST00000490827.1_5'Flank|RHOBTB1_ENST00000357917.4_3'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTGTTTTTTGTTTTTTTTCTC	0.403																																						dbGAP											0													135.0	113.0	120.0					10																	62631222		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.*18A>-	10.37:g.62631222delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000337910.5	37	NULL	CCDS7261.1	10																																																																																			RHOBTB1	-	-	ENSG00000072422		0.403	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	108	0.00	0	T			62631222	62631222	-1	no_errors	ENST00000461910	ensembl	human	known	69_37n	rna	73	11.76	10	DEL	0.000	-
RHOJ	57381	genome.wustl.edu	37	14	63757752	63757752	+	3'UTR	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:63757752G>T	ENST00000316754.3	+	0	1117					NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J						actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGGTTGTCTGGGACCTGCCTC	0.512																																						dbGAP											0													65.0	60.0	61.0					14																	63757752		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.*10G>T	14.37:g.63757752G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W104C	ENST00000316754.3	37	c.312	CCDS9757.1	14																																																																																			RHOJ	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000126785		0.512	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3	73	0.00	0	G			63757752	63757752	+1	no_errors	ENST00000557447	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	0.007	T
RHOXF2B	727940	genome.wustl.edu	37	X	119211023	119211023	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:119211023C>T	ENST00000371402.2	-	2	499	c.310G>A	c.(310-312)Gtt>Att	p.V104I	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	104					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						CTGTCCTCAACGTTGCCATCG	0.652																																						dbGAP											0													18.0	22.0	20.0					X																	119211023		1971	3829	5800	-	-	-	SO:0001583	missense	0				CCDS43985.1	Xq24	2011-06-20			ENSG00000203989	ENSG00000203989		"""Homeoboxes / PRD class"""	33519	protein-coding gene	gene with protein product							Standard	NM_001099685		Approved		uc004esj.4	P0C7M4	OTTHUMG00000022288	ENST00000371402.2:c.310G>A	X.37:g.119211023C>T	ENSP00000360455:p.Val104Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V104I	ENST00000371402.2	37	c.310	CCDS43985.1	X	.	.	.	.	.	.	.	.	.	.	c	4.589	0.109398	0.08780	.	.	ENSG00000203989	ENST00000371402	D	0.91407	-2.84	1.62	-0.483	0.12075	.	.	.	.	.	T	0.73783	0.3631	N	0.08118	0	0.09310	N	1	B	0.28439	0.212	B	0.15484	0.013	T	0.62172	-0.6910	9	0.36615	T	0.2	.	1.7364	0.02943	0.3314:0.4216:0.0:0.247	.	104	P0C7M4	RHF2B_HUMAN	I	104	ENSP00000360455:V104I	ENSP00000360455:V104I	V	-	1	0	RHOXF2B	119095051	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.782000	0.00772	-0.237000	0.09739	-0.500000	0.04577	GTT	RHOXF2B	-	NULL	ENSG00000203989		0.652	RHOXF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2B	HGNC	protein_coding	OTTHUMT00000058081.2	40	0.00	0	C	NM_001099685		119211023	119211023	-1	no_errors	ENST00000371402	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.000	T
RIMS2	9699	genome.wustl.edu	37	8	104924347	104924347	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:104924347C>T	ENST00000436393.2	+	4	1334	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	RIMS2_ENST00000406091.3_Missense_Mutation_p.R587C|RIMS2_ENST00000507740.1_Missense_Mutation_p.R395C|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442C			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAATAAGCGTCTAAAAGA	0.353										HNSCC(12;0.0054)																												dbGAP											0													118.0	115.0	116.0					8																	104924347		1840	4088	5928	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1093C>T	8.37:g.104924347C>T	ENSP00000390665:p.Arg365Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R587C	ENST00000436393.2	37	c.1759		8	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405256	0.83230	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21543	2.0;2.49;2.12;2.2;2.17;2.11;2.51	5.92	5.0	0.66597	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.41581	0.1165	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.992;0.997;0.993;0.998	T	0.14699	-1.0463	9	0.87932	D	0	.	15.9305	0.79656	0.1356:0.8644:0.0:0.0	.	665;365;442;395;587	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	C	587;618;587;665;395;442;395;395;365	ENSP00000427018:R587C;ENSP00000384892:R587C;ENSP00000425205:R395C;ENSP00000262231:R442C;ENSP00000423559:R395C;ENSP00000386228:R395C;ENSP00000390665:R365C	ENSP00000262231:R442C	R	+	1	0	RIMS2	104993523	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.953000	0.49105	2.822000	0.97130	0.650000	0.86243	CGT	RIMS2	-	superfamily_PDZ	ENSG00000176406		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	97	0.00	0	C	NM_001100117		104924347	104924347	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	60	55.88	76	SNP	1.000	T
RIN3	79890	genome.wustl.edu	37	14	93118043	93118043	+	Missense_Mutation	SNP	G	G	A	rs28663978		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:93118043G>A	ENST00000216487.7	+	6	808	c.649G>A	c.(649-651)Gca>Aca	p.A217T	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	217					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGCCCATGACGCAAACTGTGC	0.592																																						dbGAP											0													95.0	93.0	94.0					14																	93118043		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.649G>A	14.37:g.93118043G>A	ENSP00000216487:p.Ala217Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.A217T	ENST00000216487.7	37	c.649	CCDS32144.1	14	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198403	0.38806	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.12672	2.66	5.24	2.24	0.28232	.	1.113020	0.06858	N	0.798582	T	0.10723	0.0262	L	0.43152	1.355	0.09310	N	0.999994	B;B	0.28584	0.216;0.079	B;B	0.22152	0.038;0.007	T	0.40021	-0.9585	10	0.22109	T	0.4	-0.2523	3.5768	0.07937	0.1347:0.2478:0.4899:0.1276	rs28663978	142;217	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	T	217	ENSP00000216487:A217T	ENSP00000216487:A217T	A	+	1	0	RIN3	92187796	0.001000	0.12720	0.000000	0.03702	0.958000	0.62258	0.537000	0.23144	0.177000	0.19895	0.306000	0.20318	GCA	RIN3	-	NULL	ENSG00000100599		0.592	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	28	0.00	0	G			93118043	93118043	+1	no_errors	ENST00000216487	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.000	A
RND1	27289	genome.wustl.edu	37	12	49259482	49259482	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:49259482C>T	ENST00000309739.5	-	1	199	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	23					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TCTTCCCACACTGCACGTCCC	0.627																																						dbGAP											0													114.0	92.0	100.0					12																	49259482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.69G>A	12.37:g.49259482C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q23	ENST00000309739.5	37	c.69	CCDS8771.1	12																																																																																			RND1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000172602		0.627	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	49	0.00	0	C	NM_014470		49259482	49259482	-1	no_errors	ENST00000309739	ensembl	human	known	69_37n	silent	25	40.48	17	SNP	1.000	T
RNF113A	7737	genome.wustl.edu	37	X	119005376	119005376	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:119005376T>C	ENST00000371442.2	-	1	415	c.201A>G	c.(199-201)atA>atG	p.I67M	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	67							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GGGTCTTCTGTATCATTGGAT	0.572																																						dbGAP											0													185.0	180.0	181.0					X																	119005376		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.201A>G	X.37:g.119005376T>C	ENSP00000360497:p.Ile67Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.I67M	ENST00000371442.2	37	c.201	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	T	13.09	2.132431	0.37630	.	.	ENSG00000125352	ENST00000371442	T	0.32515	1.45	5.49	-5.73	0.02398	.	0.053126	0.64402	D	0.000001	T	0.31544	0.0800	M	0.65498	2.005	0.44261	D	0.997119	B	0.20459	0.045	B	0.23275	0.045	T	0.24870	-1.0148	10	0.62326	D	0.03	-20.176	19.6082	0.95588	0.0:0.0:0.8339:0.1661	.	67	O15541	R113A_HUMAN	M	67	ENSP00000360497:I67M	ENSP00000360497:I67M	I	-	3	3	RNF113A	118889404	0.974000	0.33945	0.981000	0.43875	0.633000	0.38033	-0.221000	0.09202	-0.908000	0.03857	-0.369000	0.07265	ATA	RNF113A	-	NULL	ENSG00000125352		0.572	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	172	0.00	0	T	NM_006978		119005376	119005376	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	missense	89	30.47	39	SNP	0.977	C
RNF43	54894	genome.wustl.edu	37	17	56448375	56448375	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:56448375C>T	ENST00000584437.1	-	2	2227	c.272G>A	c.(271-273)tGc>tAc	p.C91Y	RNF43_ENST00000577716.1_Missense_Mutation_p.C91Y|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Missense_Mutation_p.C91Y			Q68DV7	RNF43_HUMAN	ring finger protein 43	91					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGGCATTGCACAGGTACAG	0.572																																						dbGAP											0													84.0	69.0	74.0					17																	56448375		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.272G>A	17.37:g.56448375C>T	ENSP00000463069:p.Cys91Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C91Y	ENST00000584437.1	37	c.272	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617133	0.87359	.	.	ENSG00000108375	ENST00000407977	T	0.64260	-0.09	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.72187	0.3429	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75054	-0.3453	10	0.87932	D	0	-15.2388	18.2765	0.90085	0.0:1.0:0.0:0.0	.	91	Q68DV7	RNF43_HUMAN	Y	91	ENSP00000385328:C91Y	ENSP00000385328:C91Y	C	-	2	0	RNF43	53803374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	TGC	RNF43	-	NULL	ENSG00000108375		0.572	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	60	0.00	0	C	NM_017763		56448375	56448375	-1	no_errors	ENST00000407977	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	1.000	T
ROCK1	6093	genome.wustl.edu	37	18	18625334	18625334	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:18625334A>G	ENST00000399799.2	-	5	1449	c.509T>C	c.(508-510)gTg>gCg	p.V170A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			V -> A (in Ref. 3; AAI13115). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTTTCAGGCACATCATAGTT	0.378																																						dbGAP											0													125.0	115.0	118.0					18																	18625334		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.509T>C	18.37:g.18625334A>G	ENSP00000382697:p.Val170Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.V170A	ENST00000399799.2	37	c.509	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995692	0.93167	.	.	ENSG00000067900	ENST00000399799	T	0.66995	-0.24	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.45228	1.405	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.78666	-0.2115	10	0.87932	D	0	.	15.5304	0.75956	1.0:0.0:0.0:0.0	.	170	Q13464	ROCK1_HUMAN	A	170	ENSP00000382697:V170A	ENSP00000382697:V170A	V	-	2	0	ROCK1	16879332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.026000	0.93700	2.246000	0.74042	0.533000	0.62120	GTG	ROCK1	-	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,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000067900		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	61	0.00	0	A	NM_005406		18625334	18625334	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	G
ROR1	4919	genome.wustl.edu	37	1	64643693	64643693	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:64643693C>T	ENST00000371079.1	+	9	2344	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	ROR1_ENST00000545203.1_Missense_Mutation_p.R108C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	657	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCTGCCCATTCGCTGGATGCC	0.463																																						dbGAP											0													75.0	75.0	75.0					1																	64643693		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1969C>T	1.37:g.64643693C>T	ENSP00000360120:p.Arg657Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R657C	ENST00000371079.1	37	c.1969	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386005	0.82902	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.83755	-1.76;-1.76	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	D	0.000505	D	0.92681	0.7674	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93188	0.6580	10	0.87932	D	0	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	657	Q01973	ROR1_HUMAN	C	657;660;108	ENSP00000360120:R657C;ENSP00000441637:R108C	ENSP00000360120:R657C	R	+	1	0	ROR1	64416281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	CGC	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000185483		0.463	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	148	0.00	0	C	NM_005012		64643693	64643693	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	missense	135	11.18	17	SNP	1.000	T
ROS1	6098	genome.wustl.edu	37	6	117706915	117706915	+	Silent	SNP	A	A	G	rs369724713		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:117706915A>G	ENST00000368508.3	-	15	2433	c.2235T>C	c.(2233-2235)atT>atC	p.I745I	ROS1_ENST00000368507.3_Silent_p.I740I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	745					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTGCTCCTGCAATGCTGGGTA	0.483			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													129.0	115.0	120.0					6																	117706915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2235T>C	6.37:g.117706915A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I745	ENST00000368508.3	37	c.2235	CCDS5116.1	6																																																																																			ROS1	-	smart_LDLR_classB_rpt	ENSG00000047936		0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	160	0.00	0	A			117706915	117706915	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	silent	104	18.75	24	SNP	0.989	G
ROS1	6098	genome.wustl.edu	37	6	117710573	117710573	+	Silent	SNP	G	G	A	rs372925583	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:117710573G>A	ENST00000368508.3	-	12	1897	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	ROS1_ENST00000368507.3_Silent_p.L576L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	567	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCCAAACAGCACCGAAAGC	0.567			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													75.0	80.0	78.0					6																	117710573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1699C>T	6.37:g.117710573G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.L567	ENST00000368508.3	37	c.1699	CCDS5116.1	6																																																																																			ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000047936		0.567	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	112	0.00	0	G			117710573	117710573	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	silent	106	17.83	23	SNP	1.000	A
RP1	6101	genome.wustl.edu	37	8	55537499	55537499	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:55537499G>A	ENST00000220676.1	+	4	1205	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	353					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACAACTACTGTCAGTAAAAC	0.353																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													63.0	61.0	62.0					8																	55537499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1057G>A	8.37:g.55537499G>A	ENSP00000220676:p.Val353Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V353I	ENST00000220676.1	37	c.1057	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699209	0.30142	.	.	ENSG00000104237	ENST00000220676	T	0.35973	1.28	5.08	2.27	0.28462	.	0.389726	0.21785	N	0.069148	T	0.30135	0.0755	L	0.56769	1.78	0.28810	N	0.898278	P	0.46220	0.874	B	0.36378	0.223	T	0.20174	-1.0283	10	0.72032	D	0.01	.	10.1178	0.42601	0.0705:0.2589:0.6706:0.0	.	353	P56715	RP1_HUMAN	I	353	ENSP00000220676:V353I	ENSP00000220676:V353I	V	+	1	0	RP1	55700052	1.000000	0.71417	0.961000	0.40146	0.589000	0.36550	2.347000	0.44036	0.171000	0.19730	-0.165000	0.13383	GTC	RP1	-	NULL	ENSG00000104237		0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	67	0.00	0	G	NM_006269		55537499	55537499	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.863	A
RP2	6102	genome.wustl.edu	37	X	46713150	46713150	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:46713150C>T	ENST00000218340.3	+	2	503	c.342C>T	c.(340-342)tgC>tgT	p.C114C		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	114	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CATTAGCCTGCCAACAATTTC	0.418																																						dbGAP											0													131.0	118.0	122.0					X																	46713150		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.342C>T	X.37:g.46713150C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XJ7|Q9NU67	Silent	SNP	pfam_Tubulin-bd_cofactor_C,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.C114	ENST00000218340.3	37	c.342	CCDS14270.1	X																																																																																			RP2	-	pfam_Tubulin-bd_cofactor_C,smart_CARP_motif,pirsf_Protein_XRP2	ENSG00000102218		0.418	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	253	0.00	0	C	NM_006915		46713150	46713150	+1	no_errors	ENST00000218340	ensembl	human	known	69_37n	silent	156	10.34	18	SNP	1.000	T
RPL12	6136	genome.wustl.edu	37	9	130211976	130211976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:130211976delT	ENST00000361436.5	-	3	210	c.123delA	c.(121-123)aaafs	p.K41fs	RPL12_ENST00000497322.1_5'UTR|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373324.4_5'Flank|RPL12_ENST00000536368.1_Intron	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	41					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						CATCACCAACTTTTTTTGGAG	0.478																																						dbGAP											0													75.0	68.0	70.0					9																	130211976		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.123delA	9.37:g.130211976delT	ENSP00000354739:p.Lys41fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVV2|Q6PB27	Frame_Shift_Del	DEL	pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11	p.V42fs	ENST00000361436.5	37	c.123	CCDS6872.1	9																																																																																			RPL12	-	pfam_Ribosomal_L11_N,superfamily_Ribosomal_L11_N,smart_Ribosomal_L11	ENSG00000197958		0.478	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	55	0.00	0	T			130211976	130211976	-1	no_errors	ENST00000361436	ensembl	human	known	69_37n	frame_shift_del	24	40.00	16	DEL	0.954	-
RPL13AP3	645683	genome.wustl.edu	37	14	56233234	56233234	+	lincRNA	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:56233234C>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							CACCGCCCTACGATAAGAAAA	0.582																																						dbGAP											0																																										-	-	-			0																															14.37:g.56233234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000554458.1	37	NULL		14																																																																																			RPL13AP3	-	-	ENSG00000177350		0.582	RP11-813I20.2-001	KNOWN	basic	lincRNA	RPL13AP3	HGNC	lincRNA	OTTHUMT00000411474.1	20	0.00	0	C			56233234	56233234	+1	no_errors	ENST00000494676	ensembl	human	known	69_37n	rna	7	66.67	14	SNP	0.997	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	dbGAP		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1	120	0.83	1	T	NM_000983		6257785	6257785	-1	no_errors	ENST00000234875	ensembl	human	known	69_37n	frame_shift_del	45	34.78	24	DEL	1.000	-
RPL3	6122	genome.wustl.edu	37	22	39715077	39715078	+	Intron	DEL	CA	CA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:39715077_39715078delCA	ENST00000216146.4	-	2	177				RPL3_ENST00000465618.1_Intron|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000401609.1_5'Flank	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3						cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TGACAATCAGCACACAGTTTCT	0.525																																						dbGAP											0									,	0,2664		0,0,1332					,	3.7	1.0			72	3,5203		0,3,2600	no	intron,intron	RPL3	NM_001033853.1,NM_000967.3	,	0,3,3932	A1A1,A1R,RR		0.0576,0.0,0.0381	,	,		3,7867				-	-	-	SO:0001627	intron_variant	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.4-480TG>-	22.37:g.39715081_39715082delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDV9|Q15548|Q5I0G0	Frame_Shift_Del	DEL	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.A14fs	ENST00000216146.4	37	c.40_39	CCDS13988.1	22																																																																																			RPL3	-	NULL	ENSG00000100316		0.525	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	34	0.00	0	CA	NM_000967		39715077	39715078	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453303	ensembl	human	putative	69_37n	frame_shift_del	24	17.24	5	DEL	1.000:1.000	-
RPL37	6167	genome.wustl.edu	37	5	40835273	40835273	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:40835273G>A	ENST00000274242.5	-	1	153				SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Intron|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				AAACACCACAGTCACAACTCA	0.567																																					Colon(188;1411 2035 4978 19588 31462)	dbGAP											0													191.0	161.0	171.0					5																	40835273		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.3+11C>T	5.37:g.40835273G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4H2|P02403|Q6IBB4|Q99883	RNA	SNP	-	NULL	ENST00000274242.5	37	NULL	CCDS3934.1	5																																																																																			RPL37	-	-	ENSG00000145592		0.567	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL37	HGNC	protein_coding	OTTHUMT00000211583.2	37	0.00	0	G	NM_000997		40835273	40835273	-1	no_errors	ENST00000504562	ensembl	human	known	69_37n	rna	31	35.42	17	SNP	0.000	A
RPP30	10556	genome.wustl.edu	37	10	92655162	92655162	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:92655162delT	ENST00000371703.3	+	8	820				RPP30_ENST00000489806.1_Intron|RPP30_ENST00000413330.1_Intron	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						ATGAAACTCCTTTTTTTACAT	0.254																																						dbGAP											0													37.0	41.0	39.0					10																	92655162		2154	4226	6380	-	-	-	SO:0001627	intron_variant	0			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.550-49T>-	10.37:g.92655162delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R799|E9PB02	RNA	DEL	-	NULL	ENST00000371703.3	37	NULL	CCDS7411.1	10																																																																																			RPP30	-	-	ENSG00000148688		0.254	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	HGNC	protein_coding	OTTHUMT00000049347.1	69	0.00	0	T	NM_006413		92655162	92655162	+1	no_errors	ENST00000487998	ensembl	human	known	69_37n	rna	39	25.93	14	DEL	0.003	-
RPRD1B	58490	genome.wustl.edu	37	20	36662353	36662355	+	In_Frame_Del	DEL	TCC	TCC	-	rs569603967		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:36662353_36662355delTCC	ENST00000373433.4	+	1	406_408	c.4_6delTCC	c.(4-6)tccdel	p.S3del	TTI1_ENST00000373448.2_5'Flank|TTI1_ENST00000373447.3_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	3	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CGCCACCATGTCCTCCTTCTCTG	0.685																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.4_6delTCC	20.37:g.36662356_36662358delTCC	ENSP00000362532:p.Ser3del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1WDE7|Q6PKF4	In_Frame_Del	DEL	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.S3in_frame_del	ENST00000373433.4	37	c.4_6	CCDS13301.1	20																																																																																			RPRD1B	-	superfamily_ENTH_VHS	ENSG00000101413		0.685	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	29	0.00	0	TCC	NM_021215		36662353	36662355	+1	no_errors	ENST00000373433	ensembl	human	known	69_37n	in_frame_del	15	46.43	13	DEL	1.000:1.000:1.000	-
RPRD2	23248	genome.wustl.edu	37	1	150443266	150443266	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:150443266C>T	ENST00000369068.4	+	11	1846	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Silent_p.S588S|RPRD2_ENST00000401000.4_Silent_p.S588S	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	614	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTGGGCAAAGCCCAGGGCTCC	0.473																																						dbGAP											0													62.0	61.0	61.0					1																	150443266		1878	4100	5978	-	-	-	SO:0001819	synonymous_variant	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1842C>T	1.37:g.150443266C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.S614	ENST00000369068.4	37	c.1842	CCDS44216.1	1																																																																																			RPRD2	-	NULL	ENSG00000163125		0.473	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	198	0.00	0	C	NM_015203		150443266	150443266	+1	no_errors	ENST00000369068	ensembl	human	known	69_37n	silent	272	13.65	43	SNP	0.999	T
RPS6KA1	6195	genome.wustl.edu	37	1	26900923	26900923	+	3'UTR	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:26900923delT	ENST00000374168.2	+	0	2593				RPS6KA1_ENST00000374166.4_3'UTR|RPS6KA1_ENST00000530003.1_3'UTR	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1						axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTGTATAAACTTTTTTTTATG	0.483																																						dbGAP											0													14.0	14.0	14.0					1																	26900923		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.*231T>-	1.37:g.26900923delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.L115fs	ENST00000374168.2	37	c.337	CCDS284.1	1																																																																																			RPS6KA1	-	NULL	ENSG00000117676		0.483	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	26	0.00	0	T	NM_002953		26900923	26900923	+1	no_start_codon	ENST00000438977	ensembl	human	putative	69_37n	frame_shift_del	15	28.57	6	DEL	0.672	-
RPS10P7	376693	genome.wustl.edu	37	1	201489727	201489727	+	lincRNA	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:201489727A>G	ENST00000441932.1	+	0	1897				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		TCAAAAAAAaaaaagaaagaa	0.418																																						dbGAP											0																																										-	-	-			0					1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489727A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000441932.1	37	NULL		1																																																																																			RPS10P7	-	-	ENSG00000223396		0.418	RPS10P7-001	KNOWN	basic	lincRNA	RPS10P7	HGNC	lincRNA	OTTHUMT00000087024.1	38	0.00	0	A	NR_026667		201489727	201489727	+1	no_errors	ENST00000441932	ensembl	human	known	69_37n	rna	36	29.41	15	SNP	0.017	G
RPS6KA3	6197	genome.wustl.edu	37	X	20211692	20211694	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:20211692_20211694delTCT	ENST00000379565.3	-	7	711_713	c.504_506delAGA	c.(502-507)gaagat>gat	p.E168del	RPS6KA3_ENST00000544447.1_In_Frame_Del_p.E140del|RPS6KA3_ENST00000540702.1_In_Frame_Del_p.E140del|RPS6KA3_ENST00000379548.4_In_Frame_Del_p.E139del	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	168	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GAATTTGACATCTTCTTCTGTGA	0.296																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.504_506delAGA	X.37:g.20211698_20211700delTCT	ENSP00000368884:p.Glu168del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E168in_frame_del	ENST00000379565.3	37	c.506_504	CCDS14197.1	X																																																																																			RPS6KA3	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000177189		0.296	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	80	0.00	0	TCT	NM_004586		20211692	20211694	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	in_frame_del	51	18.75	12	DEL	1.000:1.000:1.000	-
RPS6KC1	26750	genome.wustl.edu	37	1	213446107	213446107	+	3'UTR	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:213446107delG	ENST00000366960.3	+	0	3481				RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_3'UTR|RPS6KC1_ENST00000543470.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TATAGGAAATGGGGGGGAAAT	0.418																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.*130G>-	1.37:g.213446107delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	RNA	DEL	-	NULL	ENST00000366960.3	37	NULL	CCDS1513.1	1																																																																																			RPS6KC1	-	-	ENSG00000136643		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	64	0.00	0	G	NM_012424		213446107	213446107	+1	no_errors	ENST00000490299	ensembl	human	known	69_37n	rna	87	13.86	14	DEL	0.109	-
RPTOR	57521	genome.wustl.edu	37	17	78867510	78867510	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:78867510G>T	ENST00000306801.3	+	20	2608	c.2246G>T	c.(2245-2247)gGt>gTt	p.G749V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G591V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	749					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGGGCAGCTGGTGGCGCGGTG	0.587																																						dbGAP											0													43.0	43.0	43.0					17																	78867510		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2246G>T	17.37:g.78867510G>T	ENSP00000307272:p.Gly749Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.G749V	ENST00000306801.3	37	c.2246	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	g	25.0	4.591665	0.86953	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.51325	0.84;0.71	4.87	4.87	0.63330	Armadillo-type fold (1);	0.064498	0.64402	D	0.000010	T	0.58192	0.2105	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.828	D;B	0.87578	0.998;0.221	T	0.53816	-0.8385	10	0.25751	T	0.34	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	591;749	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	749;591	ENSP00000307272:G749V;ENSP00000442479:G591V	ENSP00000307272:G749V	G	+	2	0	RPTOR	76482105	1.000000	0.71417	0.161000	0.22692	0.011000	0.07611	9.632000	0.98428	2.255000	0.74692	0.645000	0.84053	GGT	RPTOR	-	superfamily_ARM-type_fold	ENSG00000141564		0.587	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	101	0.00	0	G	NM_020761		78867510	78867510	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	28	47.17	25	SNP	1.000	T
RPUSD4	84881	genome.wustl.edu	37	11	126075389	126075389	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:126075389G>A	ENST00000298317.4	-	5	823	c.770C>T	c.(769-771)gCc>gTc	p.A257V	RPUSD4_ENST00000533628.1_Missense_Mutation_p.A226V|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	257					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTCCACGAGGGCGGAGGAGAG	0.572																																						dbGAP											0													100.0	93.0	95.0					11																	126075389		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.770C>T	11.37:g.126075389G>A	ENSP00000298317:p.Ala257Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PML2|Q96K56	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.A257V	ENST00000298317.4	37	c.770	CCDS8469.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596412	0.66332	.	.	ENSG00000165526	ENST00000298317;ENST00000533628	T;T	0.15718	2.4;2.4	5.72	5.72	0.89469	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.239043	0.46442	D	0.000293	T	0.38268	0.1034	M	0.62154	1.92	0.33014	D	0.527964	D;P	0.63880	0.993;0.885	P;P	0.62089	0.898;0.824	T	0.47114	-0.9142	10	0.72032	D	0.01	-19.7498	17.0528	0.86524	0.0:0.0:1.0:0.0	.	226;257	E9PML2;Q96CM3	.;RUSD4_HUMAN	V	257;226	ENSP00000298317:A257V;ENSP00000433065:A226V	ENSP00000298317:A257V	A	-	2	0	RPUSD4	125580599	1.000000	0.71417	0.588000	0.28705	0.100000	0.18952	4.438000	0.59961	2.691000	0.91804	0.655000	0.94253	GCC	RPUSD4	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	ENSG00000165526		0.572	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	47	0.00	0	G	NM_032795		126075389	126075389	-1	no_errors	ENST00000298317	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	0.999	A
RSPH4A	345895	genome.wustl.edu	37	6	116953503	116953503	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:116953503G>A	ENST00000229554.5	+	6	2187	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	RSPH4A_ENST00000368581.4_3'UTR|RSPH4A_ENST00000368580.4_Missense_Mutation_p.E437K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	684					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCCTAGTGTGGAGGAGGAGCA	0.443									Kartagener syndrome																													dbGAP											0													81.0	77.0	79.0					6																	116953503		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.2050G>A	6.37:g.116953503G>A	ENSP00000229554:p.Glu684Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.E684K	ENST00000229554.5	37	c.2050	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309850	0.81247	.	.	ENSG00000111834	ENST00000229554;ENST00000447842;ENST00000368580	T;T	0.19105	2.17;2.17	5.77	4.89	0.63831	.	0.094256	0.64402	D	0.000001	T	0.39172	0.1068	M	0.87682	2.9	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	T	0.35624	-0.9781	10	0.62326	D	0.03	-18.5882	12.9532	0.58413	0.0799:0.0:0.9201:0.0	.	684	Q5TD94	RSH4A_HUMAN	K	684;479;437	ENSP00000229554:E684K;ENSP00000357569:E437K	ENSP00000229554:E684K	E	+	1	0	RSPH4A	117060196	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.831000	0.69330	2.723000	0.93209	0.655000	0.94253	GAG	RSPH4A	-	pfam_Radial_spoke	ENSG00000111834		0.443	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	96	0.00	0	G	NM_001010892		116953503	116953503	+1	no_errors	ENST00000229554	ensembl	human	known	69_37n	missense	93	16.96	19	SNP	1.000	A
RUNX1T1	862	genome.wustl.edu	37	8	92988197	92988197	+	Silent	SNP	C	C	T	rs373940653		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:92988197C>T	ENST00000523629.1	-	10	1738	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	RUNX1T1_ENST00000518844.1_Silent_p.A401A|RUNX1T1_ENST00000520724.1_Silent_p.A391A|RUNX1T1_ENST00000422361.2_Silent_p.A391A|RUNX1T1_ENST00000265814.3_Silent_p.A428A|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000436581.2_Silent_p.A439A|RUNX1T1_ENST00000360348.2_Silent_p.A391A|RUNX1T1_ENST00000396218.1_Silent_p.A401A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	428					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ATTCCCGATGCGCGTCTATGA	0.483																																						dbGAP											0													98.0	99.0	99.0					8																	92988197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1284G>A	8.37:g.92988197C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A439	ENST00000523629.1	37	c.1317	CCDS6256.1	8																																																																																			RUNX1T1	-	prints_MTG8	ENSG00000079102		0.483	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	142	0.70	1	C	NM_004349, NM_175635		92988197	92988197	-1	no_errors	ENST00000436581	ensembl	human	known	69_37n	silent	88	58.69	125	SNP	0.170	T
RUSC1	23623	genome.wustl.edu	37	1	155290747	155290747	+	5'UTR	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:155290747C>T	ENST00000368352.5	+	0	30				RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_5'UTR|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAGCCGCGGACAAGCCCAAGG	0.721																																						dbGAP											0													24.0	28.0	27.0					1																	155290747		1885	4093	5978	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-122C>T	1.37:g.155290747C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1-AS1	-	-	ENSG00000225855		0.721	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1-AS1	HGNC	protein_coding	OTTHUMT00000039071.1	42	0.00	0	C			155290747	155290747	-1	no_errors	ENST00000450199	ensembl	human	known	69_37n	rna	34	17.07	7	SNP	0.004	T
RUVBL2	10856	genome.wustl.edu	37	19	49513294	49513294	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49513294G>A	ENST00000595090.1	+	8	1098	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	RUVBL2_ENST00000601968.1_Missense_Mutation_p.A167T|RUVBL2_ENST00000413176.2_Missense_Mutation_p.A167T	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	212					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTTCACACGCGCCCGCGACTA	0.642																																						dbGAP											0													48.0	49.0	49.0					19																	49513294		1999	4144	6143	-	-	-	SO:0001583	missense	0			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.634G>A	19.37:g.49513294G>A	ENSP00000473172:p.Ala212Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.A212T	ENST00000595090.1	37	c.634	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783428	0.70222	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.49432	0.78	4.2	4.2	0.49525	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.78285	2.405	0.80722	D	1	B;P;P	0.52577	0.327;0.53;0.954	B;B;P	0.54140	0.136;0.126;0.743	T	0.67810	-0.5574	10	0.59425	D	0.04	-19.1545	14.4287	0.67233	0.0:0.0:1.0:0.0	.	212;212;178	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	T	212;167	ENSP00000413890:A167T	ENSP00000221413:A212T	A	+	1	0	RUVBL2	54205106	1.000000	0.71417	0.651000	0.29564	0.696000	0.40369	8.469000	0.90395	2.346000	0.79739	0.655000	0.94253	GCC	RUVBL2	-	pfam_TIP49_C,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	ENSG00000183207		0.642	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	25	0.00	0	G			49513294	49513294	+1	no_errors	ENST00000221413	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	A
RXFP1	59350	genome.wustl.edu	37	4	159566200	159566200	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:159566200A>G	ENST00000307765.5	+	15	1506	c.1255A>G	c.(1255-1257)Acc>Gcc	p.T419A	RXFP1_ENST00000460056.2_Missense_Mutation_p.T338A|RXFP1_ENST00000470033.1_Missense_Mutation_p.T386A|RXFP1_ENST00000343542.5_Missense_Mutation_p.T371A|RXFP1_ENST00000448688.2_Missense_Mutation_p.T314A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	419					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATCTGCAGTTACCTGCTTTGG	0.398																																						dbGAP											0													136.0	127.0	130.0					4																	159566200		1884	4122	6006	-	-	-	SO:0001583	missense	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1255A>G	4.37:g.159566200A>G	ENSP00000303248:p.Thr419Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.T419A	ENST00000307765.5	37	c.1255	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	A	30	5.052993	0.93793	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.31371	0.925	0.80722	D	1	D;D;D;P;D;B;D;D	0.89917	0.997;0.987;1.0;0.931;0.998;0.164;1.0;0.997	D;P;D;P;D;B;D;D	0.74348	0.922;0.873;0.976;0.833;0.95;0.113;0.983;0.922	T	0.21314	-1.0249	10	0.02654	T	1	.	16.0789	0.80985	1.0:0.0:0.0:0.0	.	430;446;314;371;386;338;289;419	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	A	338;419;314;371;386;289	ENSP00000423306:T338A;ENSP00000303248:T419A;ENSP00000414885:T314A;ENSP00000345889:T371A;ENSP00000420712:T386A	ENSP00000303248:T419A	T	+	1	0	RXFP1	159785650	1.000000	0.71417	0.954000	0.39281	0.997000	0.91878	9.144000	0.94629	2.192000	0.70111	0.460000	0.39030	ACC	RXFP1	-	NULL	ENSG00000171509		0.398	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	84	0.00	0	A	NM_021634		159566200	159566200	+1	no_errors	ENST00000307765	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	G
RYK	6259	genome.wustl.edu	37	3	133921685	133921685	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:133921685G>A	ENST00000427044.2	-	7	711	c.101C>T	c.(100-102)aCg>aTg	p.T34M	RYK_ENST00000296084.4_Missense_Mutation_p.T224M			P34925	RYK_HUMAN	receptor-like tyrosine kinase	223				PALRAAAAPALLLARCAVAAAAGLRAAAR -> RGLRAPPP PPLLLLLALLPLLPAPGAAAAPA (in Ref. 2). {ECO:0000305}.	axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						AAACACACGCGTAGAAGTGGT	0.343																																						dbGAP											0													67.0	61.0	63.0					3																	133921685		1850	4104	5954	-	-	-	SO:0001583	missense	0			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.101C>T	3.37:g.133921685G>A	ENSP00000399527:p.Thr34Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q04696	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T34M	ENST00000427044.2	37	c.101		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.485216|4.485216	0.84854|0.84854	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000460933|ENST00000296084;ENST00000427044	.|T;T	.|0.79653	.|1.87;-1.29	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85392|0.85392	0.5686|0.5686	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.993;0.997	D|D	0.86301|0.86301	0.1680|0.1680	5|10	.|0.59425	.|D	.|0.04	-5.1351|-5.1351	19.5924|19.5924	0.95520|0.95520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;223	.|P34925;P34925-2	.|RYK_HUMAN;.	C|M	206|224;34	.|ENSP00000296084:T224M;ENSP00000399527:T34M	.|ENSP00000296084:T224M	R|T	-|-	1|2	0|0	RYK|RYK	135404375|135404375	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.979000|0.979000	0.70002|0.70002	9.110000|9.110000	0.94302|0.94302	2.627000|2.627000	0.88993|0.88993	0.557000|0.557000	0.71058|0.71058	CGC|ACG	RYK	-	NULL	ENSG00000163785		0.343	RYK-202	KNOWN	basic|appris_principal	protein_coding	RYK	HGNC	protein_coding		123	0.00	0	G	NM_001005861		133921685	133921685	-1	no_errors	ENST00000427044	ensembl	human	known	69_37n	missense	88	40.94	61	SNP	1.000	A
S1PR3	1903	genome.wustl.edu	37	9	91616443	91616443	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:91616443G>A	ENST00000375846.3	+	1	5023	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	S1PR3_ENST00000358157.2_Missense_Mutation_p.V110I			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	110					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GTCTCCCACGGTCTGGTTCCT	0.562											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	78.0	80.0					9																	91616443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.328G>A	9.37:g.91616443G>A	ENSP00000365006:p.Val110Ile	Somatic	1283	WXS	Illumina GAIIx	Phase_IV	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.V110I	ENST00000375846.3	37	c.328	CCDS6680.1	9	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296552	0.23650	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.37411	1.2;1.2	5.04	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.751644	0.12659	N	0.449770	T	0.21427	0.0516	N	0.17474	0.49	0.26847	N	0.968241	B	0.09022	0.002	B	0.08055	0.003	T	0.13845	-1.0494	10	0.30078	T	0.28	.	7.1887	0.25814	0.1143:0.1741:0.7116:0.0	.	110	Q99500	S1PR3_HUMAN	I	110	ENSP00000350878:V110I;ENSP00000365006:V110I	ENSP00000350878:V110I	V	+	1	0	S1PR3	90806263	0.999000	0.42202	0.860000	0.33809	0.978000	0.69477	3.190000	0.50973	1.336000	0.45506	0.561000	0.74099	GTC	S1PR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG1_rcpt	ENSG00000213694		0.562	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	129	0.00	0	G	NM_005226		91616443	91616443	+1	no_errors	ENST00000358157	ensembl	human	known	69_37n	missense	89	21.93	25	SNP	0.831	A
S1PR3	1903	genome.wustl.edu	37	9	91616712	91616712	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:91616712C>T	ENST00000375846.3	+	1	5292	c.597C>T	c.(595-597)ttC>ttT	p.F199F	S1PR3_ENST00000358157.2_Silent_p.F199F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						ACATTGCCTTCTGCATCAGCA	0.572											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													196.0	156.0	169.0					9																	91616712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.597C>T	9.37:g.91616712C>T		Somatic	1283	WXS	Illumina GAIIx	Phase_IV	Q5SQD8|Q7Z5I2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG3_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt	p.F199	ENST00000375846.3	37	c.597	CCDS6680.1	9																																																																																			S1PR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Cnbnoid_rcpt	ENSG00000213694		0.572	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR3	HGNC	protein_coding	OTTHUMT00000052979.2	110	0.00	0	C	NM_005226		91616712	91616712	+1	no_errors	ENST00000358157	ensembl	human	known	69_37n	silent	83	11.58	11	SNP	1.000	T
SAFB	6294	genome.wustl.edu	37	19	5657321	5657321	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:5657321A>G	ENST00000292123.5	+	14	1932	c.1825A>G	c.(1825-1827)Aag>Gag	p.K609E	SAFB_ENST00000433404.1_Missense_Mutation_p.K439E|SAFB_ENST00000588852.1_Missense_Mutation_p.K609E|SAFB_ENST00000592224.1_Missense_Mutation_p.K609E|SAFB_ENST00000454510.1_Missense_Mutation_p.K540E|SAFB_ENST00000538656.1_Missense_Mutation_p.K452E	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	609	Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGATAAGGTCAAGGAGCCTCG	0.473																																					Colon(88;338 1345 6184 8214 20897)	dbGAP											0													82.0	76.0	78.0					19																	5657321		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1825A>G	19.37:g.5657321A>G	ENSP00000292123:p.Lys609Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.K609E	ENST00000292123.5	37	c.1825	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564512	0.45694	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.20738	2.16;2.39;2.11;2.05	5.51	4.47	0.54385	.	0.335698	0.25671	N	0.029073	T	0.45216	0.1331	M	0.76170	2.325	0.54753	D	0.999982	P;D;P;D;D;D;D	0.89917	0.877;0.999;0.925;1.0;1.0;1.0;1.0	B;D;P;D;D;D;D	0.74348	0.265;0.979;0.453;0.983;0.983;0.983;0.983	T	0.44360	-0.9333	10	0.87932	D	0	-15.2722	12.454	0.55693	0.8596:0.1403:0.0:0.0	.	408;452;540;609;609;609;609	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	E	540;504;439;609;452	ENSP00000415895:K540E;ENSP00000404545:K439E;ENSP00000292123:K609E;ENSP00000438880:K452E	ENSP00000292123:K609E	K	+	1	0	SAFB	5608321	1.000000	0.71417	0.977000	0.42913	0.458000	0.32498	5.719000	0.68462	0.995000	0.38917	0.455000	0.32223	AAG	SAFB	-	NULL	ENSG00000160633		0.473	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	32	0.00	0	A			5657321	5657321	+1	no_errors	ENST00000588852	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	G
SALL4	57167	genome.wustl.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562																																						dbGAP											0													74.0	70.0	72.0					20																	50400983		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2983delG	20.37:g.50400983delC	ENSP00000217086:p.Val995fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V995fs	ENST00000217086.4	37	c.2983	CCDS13438.1	20																																																																																			SALL4	-	NULL	ENSG00000101115		0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	92	0.00	0	C			50400983	50400983	-1	no_errors	ENST00000217086	ensembl	human	known	69_37n	frame_shift_del	57	21.05	16	DEL	0.001	-
SALL4	57167	genome.wustl.edu	37	20	50407595	50407595	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:50407595G>A	ENST00000217086.4	-	2	1538	c.1427C>T	c.(1426-1428)cCt>cTt	p.P476L	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	476					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAAGGACAGGTTTGCTGTC	0.557																																						dbGAP											0													93.0	99.0	97.0					20																	50407595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1427C>T	20.37:g.50407595G>A	ENSP00000217086:p.Pro476Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P476L	ENST00000217086.4	37	c.1427	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996370	0.74818	.	.	ENSG00000101115	ENST00000217086	T	0.12569	2.67	5.4	4.45	0.53987	.	0.333100	0.22094	N	0.064715	T	0.28830	0.0715	M	0.87456	2.885	0.80722	D	1	P	0.47106	0.89	P	0.46076	0.503	T	0.27536	-1.0071	10	0.72032	D	0.01	-7.0667	13.8451	0.63463	0.0736:0.0:0.9264:0.0	.	476	Q9UJQ4	SALL4_HUMAN	L	476	ENSP00000217086:P476L	ENSP00000217086:P476L	P	-	2	0	SALL4	49841002	1.000000	0.71417	0.947000	0.38551	0.995000	0.86356	7.961000	0.87903	1.269000	0.44280	0.650000	0.86243	CCT	SALL4	-	NULL	ENSG00000101115		0.557	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	99	0.00	0	G			50407595	50407595	-1	no_errors	ENST00000217086	ensembl	human	known	69_37n	missense	77	19.79	19	SNP	1.000	A
SAP130	79595	genome.wustl.edu	37	2	128767866	128767866	+	Silent	SNP	C	C	A	rs146397339	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:128767866C>A	ENST00000259235.3	-	7	1053	c.924G>T	c.(922-924)gcG>gcT	p.A308A	SAP130_ENST00000357702.5_Silent_p.A308A|SAP130_ENST00000259234.6_Silent_p.A282A	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	308					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGTAGCATGCGCCGCTGTCG	0.512																																						dbGAP											0													121.0	105.0	110.0					2																	128767866		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.924G>T	2.37:g.128767866C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.A308	ENST00000259235.3	37	c.924	CCDS2153.1	2																																																																																			SAP130	-	NULL	ENSG00000136715		0.512	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	77	0.00	0	C	NM_024545		128767866	128767866	-1	no_errors	ENST00000357702	ensembl	human	known	69_37n	silent	71	32.38	34	SNP	0.987	A
SAV1	60485	genome.wustl.edu	37	14	51101903	51101903	+	Stop_Codon_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:51101903delA	ENST00000324679.4	-	0	1513				RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1						hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAATCAGCTCAAAAATTTTTT	0.323																																						dbGAP											0													63.0	63.0	63.0					14																	51101903		2203	4300	6503	-	-	-	SO:0001567	stop_retained_variant	0			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"""WW domain-containing adaptor 45"""	607203	"""salvador homolog 1 (Drosophila)"""			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	Exception_encountered	14.37:g.51101903delA	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Frame_Shift_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_SARAH,pfscan_WW_Rsp5_WWP	p.*384fs	ENST00000324679.4	37	c.1150	CCDS9701.1	14																																																																																			SAV1	-	NULL	ENSG00000151748		0.323	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAV1	HGNC	protein_coding	OTTHUMT00000276879.1	89	0.00	0	A			51101903	51101903	-1	no_errors	ENST00000324679	ensembl	human	known	69_37n	frame_shift_del	78	10.34	9	DEL	1.000	-
SBNO1	55206	genome.wustl.edu	37	12	123813396	123813396	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:123813396delT	ENST00000602398.1	-	10	1308	c.1181delA	c.(1180-1182)aagfs	p.K394fs	SBNO1_ENST00000420886.2_Frame_Shift_Del_p.K394fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.K393fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.K393fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	394					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AATAACACCCTTTTTCACACT	0.338																																						dbGAP											0													115.0	110.0	111.0					12																	123813396		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1181delA	12.37:g.123813396delT	ENSP00000473665:p.Lys394fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.K394fs	ENST00000602398.1	37	c.1181	CCDS53844.1	12																																																																																			SBNO1	-	pfam_Helicase/UvrB_dom	ENSG00000139697		0.338	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	104	0.00	0	T	NM_018183		123813396	123813396	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	frame_shift_del	112	19.15	27	DEL	1.000	-
SCAI	286205	genome.wustl.edu	37	9	127828280	127828280	+	Intron	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:127828280A>C	ENST00000336505.6	-	3	157				SCAI_ENST00000373549.4_Missense_Mutation_p.H52Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						tttcagtgaaatgttgatatc	0.308																																						dbGAP											0													76.0	73.0	74.0					9																	127828280		1804	4056	5860	-	-	-	SO:0001627	intron_variant	0			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.99-9994T>G	9.37:g.127828280A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.H52Q	ENST00000336505.6	37	c.156	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	A	11.12	1.544335	0.27563	.	.	ENSG00000173611	ENST00000373549	T	0.42131	0.98	0.502	0.502	0.16932	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.09310	N	1	P	0.37500	0.597	B	0.42916	0.402	T	0.35126	-0.9801	7	0.87932	D	0	.	.	.	.	.	52	Q8N9R8-2	.	Q	52	ENSP00000362650:H52Q	ENSP00000362650:H52Q	H	-	3	2	SCAI	126868101	0.147000	0.22687	0.104000	0.21259	0.553000	0.35397	0.530000	0.23036	0.454000	0.26884	0.102000	0.15555	CAT	SCAI	-	pirsf_UCP013022	ENSG00000173611		0.308	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	111	0.00	0	A	NM_173690		127828280	127828280	-1	no_errors	ENST00000373549	ensembl	human	known	69_37n	missense	67	42.74	50	SNP	0.155	C
ZBED9	114821	genome.wustl.edu	37	6	28540692	28540692	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:28540692G>A	ENST00000452236.2	-	4	3591	c.2974C>T	c.(2974-2976)Cca>Tca	p.P992S		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ttacattctggcgcaagttcc	0.343																																						dbGAP											0													96.0	97.0	97.0					6																	28540692		2201	4300	6501	-	-	-	SO:0001583	missense	0																														ENST00000452236.2:c.2974C>T	6.37:g.28540692G>A	ENSP00000395259:p.Pro992Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.P992S	ENST00000452236.2	37	c.2974	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270319	0.40194	.	.	ENSG00000232040	ENST00000452236	T	0.02498	4.27	2.14	2.14	0.27477	Ribonuclease H-like (1);	0.094562	0.42294	D	0.000734	T	0.03305	0.0096	L	0.44542	1.39	0.26829	N	0.968613	D	0.57571	0.98	D	0.70227	0.968	T	0.38714	-0.9648	10	0.49607	T	0.09	.	7.8439	0.29414	0.0:0.0:1.0:0.0	.	992	Q6R2W3	SCND3_HUMAN	S	992	ENSP00000395259:P992S	ENSP00000395259:P992S	P	-	1	0	SCAND3	28648671	0.941000	0.31946	0.936000	0.37596	0.985000	0.73830	2.318000	0.43779	1.507000	0.48752	0.561000	0.74099	CCA	SCAND3	-	superfamily_RNaseH-like_dom	ENSG00000232040		0.343	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	147	0.00	0	G			28540692	28540692	-1	no_errors	ENST00000452236	ensembl	human	known	69_37n	missense	103	39.05	66	SNP	0.945	A
SCD5	79966	genome.wustl.edu	37	4	83626534	83626534	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:83626534C>T	ENST00000319540.4	-	2	584	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	SCD5_ENST00000273908.4_Missense_Mutation_p.V89M|SCD5_ENST00000282709.4_Missense_Mutation_p.V89M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	89					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAGCTGTCACACCCAGAGCG	0.567																																						dbGAP											0													64.0	59.0	60.0					4																	83626534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.265G>A	4.37:g.83626534C>T	ENSP00000316329:p.Val89Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.V89M	ENST00000319540.4	37	c.265	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063432	0.76187	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T;T	0.18960	2.18;2.18	5.12	5.12	0.69794	Fatty acid desaturase, type 1 (1);	0.124466	0.53938	D	0.000041	T	0.51941	0.1704	M	0.83384	2.64	0.42940	D	0.99434	D;D;D	0.76494	0.999;0.999;0.993	D;D;D	0.77557	0.982;0.99;0.977	T	0.57277	-0.7839	10	0.87932	D	0	-4.2892	18.7141	0.91668	0.0:1.0:0.0:0.0	.	89;89;89	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	M	89	ENSP00000316329:V89M;ENSP00000273908:V89M	ENSP00000273908:V89M	V	-	1	0	SCD5	83845558	0.879000	0.30193	1.000000	0.80357	0.996000	0.88848	1.738000	0.38207	2.826000	0.97356	0.491000	0.48974	GTG	SCD5	-	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	ENSG00000145284		0.567	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	40	0.00	0	C	NM_024906		83626534	83626534	-1	no_errors	ENST00000319540	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.994	T
SCEL	8796	genome.wustl.edu	37	13	78191973	78191973	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:78191973C>A	ENST00000349847.3	+	26	1631	c.1547C>A	c.(1546-1548)cCt>cAt	p.P516H	SCEL_ENST00000377246.3_Missense_Mutation_p.P496H|SCEL_ENST00000535157.1_Missense_Mutation_p.P474H	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	516	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAAGTAAATCCTGCAGTAATC	0.308																																						dbGAP											0													84.0	89.0	88.0					13																	78191973		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1547C>A	13.37:g.78191973C>A	ENSP00000302579:p.Pro516His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.P516H	ENST00000349847.3	37	c.1547	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563857	0.45694	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24908	1.83;1.83;1.83	5.93	3.3	0.37823	.	0.222263	0.32401	N	0.006143	T	0.46541	0.1398	M	0.78049	2.395	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.25152	-1.0140	10	0.49607	T	0.09	-3.8998	7.3903	0.26905	0.0:0.7428:0.0:0.2572	.	474;496;516	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	H	474;496;516	ENSP00000437895:P474H;ENSP00000366454:P496H;ENSP00000302579:P516H	ENSP00000302579:P516H	P	+	2	0	SCEL	77089974	0.015000	0.18098	0.084000	0.20598	0.790000	0.44656	1.283000	0.33237	0.872000	0.35775	-0.136000	0.14681	CCT	SCEL	-	NULL	ENSG00000136155		0.308	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	336	0.00	0	C	NM_144777		78191973	78191973	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	missense	354	18.06	78	SNP	0.003	A
SCGB2A1	4246	genome.wustl.edu	37	11	61976233	61976233	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:61976233G>A	ENST00000244930.4	+	1	94	c.30G>A	c.(28-30)gcG>gcA	p.A10A		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	10					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						TCATGCTGGCGGCCCTCCTCC	0.592																																						dbGAP											0													100.0	90.0	93.0					11																	61976233		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"""Secretoglobins"""	7051	protein-coding gene	gene with protein product	"""lipophilin C"", ""mammaglobin B"", ""lacryglobin"""	604398	"""mammaglobin 2"""	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.30G>A	11.37:g.61976233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.A10	ENST00000244930.4	37	c.30	CCDS8016.1	11																																																																																			SCGB2A1	-	pfam_Uteroglobin-like_superfam	ENSG00000124939		0.592	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A1	HGNC	protein_coding	OTTHUMT00000394857.1	153	0.00	0	G	NM_002407		61976233	61976233	+1	no_errors	ENST00000244930	ensembl	human	known	69_37n	silent	112	17.04	23	SNP	0.004	A
SCLT1	132320	genome.wustl.edu	37	4	129869675	129869675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:129869675delT	ENST00000281142.5	-	15	1772	c.1269delA	c.(1267-1269)aaafs	p.K423fs	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	423					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTCCACTGCTTTTTTTTCCT	0.328																																						dbGAP											0													163.0	148.0	153.0					4																	129869675		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1269delA	4.37:g.129869675delT	ENSP00000281142:p.Lys423fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	NULL	p.A424fs	ENST00000281142.5	37	c.1269	CCDS3740.1	4																																																																																			SCLT1	-	NULL	ENSG00000151466		0.328	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	94	0.00	0	T	NM_144643		129869675	129869675	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	frame_shift_del	85	26.05	31	DEL	1.000	-
SCN10A	6336	genome.wustl.edu	37	3	38748822	38748822	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:38748822G>A	ENST00000449082.2	-	25	4333	c.4334C>T	c.(4333-4335)gCc>gTc	p.A1445V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1445					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTCTTCATGGCATTGTAGTA	0.547																																						dbGAP											0													141.0	147.0	145.0					3																	38748822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4334C>T	3.37:g.38748822G>A	ENSP00000390600:p.Ala1445Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.A1445V	ENST00000449082.2	37	c.4334	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.550574	0.96501	.	.	ENSG00000185313	ENST00000449082	D	0.95918	-3.85	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.98623	0.9539	H	0.96805	3.885	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.99628	1.0985	10	0.87932	D	0	.	18.5244	0.90967	0.0:0.0:1.0:0.0	.	1445	Q9Y5Y9	SCNAA_HUMAN	V	1445	ENSP00000390600:A1445V	ENSP00000390600:A1445V	A	-	2	0	SCN10A	38723826	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.595000	0.98260	2.614000	0.88457	0.655000	0.94253	GCC	SCN10A	-	NULL	ENSG00000185313		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	95	0.00	0	G	NM_006514		38748822	38748822	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	23	53.85	28	SNP	1.000	A
SCN1B	6324	genome.wustl.edu	37	19	35530162	35530162	+	Splice_Site	SNP	C	C	T	rs554201948		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:35530162C>T	ENST00000262631.5	+	4	727	c.590C>T	c.(589-591)gCc>gTc	p.A197V	HPN_ENST00000392226.1_5'Flank|SCN1B_ENST00000595652.1_Splice_Site_p.A126V|HPN_ENST00000597419.1_5'Flank|CTD-2527I21.9_ENST00000601692.1_RNA|HPN_ENST00000262626.2_5'Flank	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	197					axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGGAGAATGCGTGAGTAGGG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19548	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	92.0	95.0					19																	35530162		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.590+1C>T	19.37:g.35530162C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZZ4|Q6TN97	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.A197V	ENST00000262631.5	37	c.590	CCDS12441.1	19	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938653	0.52972	.	.	ENSG00000105711	ENST00000262631	D	0.98135	-4.74	4.09	4.09	0.47781	.	0.074135	0.52532	D	0.000061	D	0.96543	0.8872	L	0.55834	1.745	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.49047	0.599;0.599	D	0.95881	0.8899	10	0.52906	T	0.07	.	11.6924	0.51523	0.0:1.0:0.0:0.0	.	126;197	B4DI92;Q07699	.;SCN1B_HUMAN	V	197	ENSP00000262631:A197V	ENSP00000262631:A197V	A	+	2	0	SCN1B	40222002	1.000000	0.71417	0.993000	0.49108	0.118000	0.20060	3.708000	0.54845	2.121000	0.65114	0.462000	0.41574	GCC	SCN1B	-	NULL	ENSG00000105711		0.612	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	72	0.00	0	C		Missense_Mutation	35530162	35530162	+1	no_errors	ENST00000262631	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	1.000	T
SCN3A	6328	genome.wustl.edu	37	2	166011045	166011045	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:166011045C>G	ENST00000360093.3	-	11	1788	c.1297G>C	c.(1297-1299)Gcc>Ccc	p.A433P	SCN3A_ENST00000409101.3_Missense_Mutation_p.A433P|SCN3A_ENST00000283254.7_Missense_Mutation_p.A433P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	433					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCAAGGTGGCCTGATTCTGC	0.433																																						dbGAP											0													112.0	107.0	108.0					2																	166011045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1297G>C	2.37:g.166011045C>G	ENSP00000353206:p.Ala433Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A433P	ENST00000360093.3	37	c.1297		2	.	.	.	.	.	.	.	.	.	.	C	35	5.413058	0.96072	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96885	-4.16;-4.16;-4.14;-3.99	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000010	D	0.98554	0.9517	M	0.90198	3.095	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.994;0.994;0.997;0.997;0.997	D	0.99174	1.0865	10	0.87932	D	0	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	433;433;433;433;433	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	P	433	ENSP00000353206:A433P;ENSP00000283254:A433P;ENSP00000386726:A433P;ENSP00000403348:A433P	ENSP00000283254:A433P	A	-	1	0	SCN3A	165719291	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.818000	0.86416	2.723000	0.93209	0.591000	0.81541	GCC	SCN3A	-	NULL	ENSG00000153253		0.433	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		156	0.00	0	C	NM_006922		166011045	166011045	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	156	22.00	44	SNP	1.000	G
SCN7A	6332	genome.wustl.edu	37	2	167273463	167273464	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:167273463_167273464insA	ENST00000409855.1	-	20	3293_3294	c.3167_3168insT	c.(3166-3168)ttafs	p.L1056fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1056					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCAAAGTGGGTAAGGTTGTTTT	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3168dupT	2.37:g.167273465_167273465dupA	ENSP00000386796:p.Leu1056fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1056fs	ENST00000409855.1	37	c.3168_3167	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.351	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	36	0.00	0	-			167273463	167273464	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	frame_shift_ins	41	16.33	8	INS	0.979:0.999	A
SCRN3	79634	genome.wustl.edu	37	2	175287696	175287696	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:175287696G>A	ENST00000272732.6	+	6	920	c.838G>A	c.(838-840)Gca>Aca	p.A280T	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.A273T	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	280							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CCTGACCACTGCAAGCATGGT	0.378																																						dbGAP											0													113.0	112.0	112.0					2																	175287696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.838G>A	2.37:g.175287696G>A	ENSP00000272732:p.Ala280Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	pfam_Peptidase_C69	p.A280T	ENST00000272732.6	37	c.838	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.333634	0.95758	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.11063	2.81;2.81	5.16	5.16	0.70880	.	0.051146	0.85682	D	0.000000	T	0.15609	0.0376	M	0.66297	2.02	0.50313	D	0.999861	B;B	0.32939	0.391;0.22	B;B	0.25140	0.058;0.039	T	0.02574	-1.1139	10	0.87932	D	0	-17.1647	18.6679	0.91499	0.0:0.0:1.0:0.0	.	273;280	B4DI11;Q0VDG4	.;SCRN3_HUMAN	T	273;280	ENSP00000387142:A273T;ENSP00000272732:A280T	ENSP00000272732:A280T	A	+	1	0	SCRN3	174995942	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.475000	0.73582	2.420000	0.82092	0.561000	0.74099	GCA	SCRN3	-	NULL	ENSG00000144306		0.378	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	107	0.00	0	G	NM_024583		175287696	175287696	+1	no_errors	ENST00000272732	ensembl	human	known	69_37n	missense	108	20.00	27	SNP	1.000	A
SCRN3	79634	genome.wustl.edu	37	2	175292623	175292623	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:175292623G>A	ENST00000272732.6	+	8	1357	c.1275G>A	c.(1273-1275)taG>taA	p.*425*	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Silent_p.*418*	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	0							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTAGTTCTTAGTGATCATATG	0.308																																						dbGAP											0													61.0	60.0	61.0					2																	175292623		2203	4292	6495	-	-	-	SO:0001819	synonymous_variant	0			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1275G>A	2.37:g.175292623G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	pfam_Peptidase_C69	p.*425	ENST00000272732.6	37	c.1275	CCDS2258.1	2																																																																																			SCRN3	-	NULL	ENSG00000144306		0.308	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	76	0.00	0	G	NM_024583		175292623	175292623	+1	no_errors	ENST00000272732	ensembl	human	known	69_37n	silent	47	33.80	24	SNP	0.002	A
SEC14L2	23541	genome.wustl.edu	37	22	30806647	30806649	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:30806647_30806649delAAG	ENST00000312932.9	+	8	903_905	c.643_645delAAG	c.(643-645)aagdel	p.K216del	SEC14L2_ENST00000402592.3_In_Frame_Del_p.K133del|SEC14L2_ENST00000405717.3_In_Frame_Del_p.K216del|SEC14L2_ENST00000403484.1_In_Frame_Del_p.K142del|RP4-539M6.19_ENST00000439838.1_In_Frame_Del_p.K50del	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	216	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GGACACTCGTAAGAAGATCATGG	0.527																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.643_645delAAG	22.37:g.30806650_30806652delAAG	ENSP00000316203:p.Lys216del	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	In_Frame_Del	DEL	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.K216in_frame_del	ENST00000312932.9	37	c.643_645	CCDS13876.1	22																																																																																			SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000100003		0.527	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	42	0.00	0	AAG	NM_012429		30806647	30806649	+1	no_errors	ENST00000312932	ensembl	human	known	69_37n	in_frame_del	40	20.00	10	DEL	0.949:0.986:1.000	-
SEC14L2	23541	genome.wustl.edu	37	22	30818390	30818390	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:30818390G>A	ENST00000312932.9	+	12	1466	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RP4-539M6.20_ENST00000608677.1_RNA|RNU6-564P_ENST00000410983.1_RNA|SEC14L2_ENST00000402592.3_Silent_p.P319P|SEC14L2_ENST00000403484.1_Silent_p.P328P|RP4-539M6.21_ENST00000608952.1_RNA|RP4-539M6.19_ENST00000439838.1_Intron	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	402					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAGGCACCCCGAAATAACACC	0.512																																						dbGAP											0													64.0	62.0	63.0					22																	30818390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.1206G>A	22.37:g.30818390G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.P402	ENST00000312932.9	37	c.1206	CCDS13876.1	22																																																																																			SEC14L2	-	NULL	ENSG00000100003		0.512	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	120	0.00	0	G	NM_012429		30818390	30818390	+1	no_errors	ENST00000312932	ensembl	human	known	69_37n	silent	66	22.09	19	SNP	0.724	A
SEC31B	25956	genome.wustl.edu	37	10	102265865	102265865	+	Missense_Mutation	SNP	C	C	A	rs375086611		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:102265865C>A	ENST00000370345.3	-	9	1073	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	SEC31B_ENST00000535773.1_Missense_Mutation_p.G169C|SEC31B_ENST00000370329.5_Missense_Mutation_p.G329C|SEC31B_ENST00000451524.1_Missense_Mutation_p.G326C	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	326					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTGATCCAGCCGTTGAAGGAG	0.517																																						dbGAP											0													156.0	149.0	151.0					10																	102265865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.976G>T	10.37:g.102265865C>A	ENSP00000359370:p.Gly326Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G326C	ENST00000370345.3	37	c.976	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879810	0.72294	.	.	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	T;T;T;T	0.79653	0.9;0.9;-1.29;0.9	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.094680	0.64402	D	0.000001	D	0.92708	0.7682	M	0.93898	3.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	D	0.93883	0.7173	10	0.87932	D	0	-18.224	19.0544	0.93058	0.0:1.0:0.0:0.0	.	326;329;325;326;326	A8KAL6;B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;.;SC31B_HUMAN	C	326;326;169;329	ENSP00000359370:G326C;ENSP00000391178:G326C;ENSP00000442621:G169C;ENSP00000359354:G329C	ENSP00000359354:G329C	G	-	1	0	SEC31B	102255855	1.000000	0.71417	0.969000	0.41365	0.213000	0.24496	4.931000	0.63469	2.826000	0.97356	0.561000	0.74099	GGC	SEC31B	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000075826		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	194	0.00	0	C	NM_015490		102265865	102265865	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	missense	136	24.86	45	SNP	1.000	A
SEC63	11231	genome.wustl.edu	37	6	108204320	108204322	+	In_Frame_Del	DEL	CTT	CTT	-	rs202062136|rs199837271		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:108204320_108204322delCTT	ENST00000369002.4	-	17	1882_1884	c.1703_1705delAAG	c.(1702-1707)gaagtt>gtt	p.E568del		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	568			Missing (in PCLD). {ECO:0000269|PubMed:15133510}.		liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTATCTGAAACTTCTTCTTCATC	0.389																																						dbGAP											0			GRCh37	CD041606	SEC63	D				1,4263		0,1,2131						5.2	1.0			117	20,8234		0,20,4107	no	coding	SEC63	NM_007214.4		0,21,6238	A1A1,A1R,RR		0.2423,0.0235,0.1678				21,12497				-	-	-	SO:0001651	inframe_deletion	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1703_1705delAAG	6.37:g.108204326_108204328delCTT	ENSP00000357998:p.Glu568del	Somatic		WXS	Illumina GAIIx	Phase_IV	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	In_Frame_Del	DEL	pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.E568in_frame_del	ENST00000369002.4	37	c.1705_1703	CCDS5061.1	6																																																																																			SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.389	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	85	0.00	0	CTT	NM_007214		108204320	108204322	-1	no_errors	ENST00000369002	ensembl	human	known	69_37n	in_frame_del	99	17.50	21	DEL	0.088:0.109:0.996	-
SEL1L	6400	genome.wustl.edu	37	14	81956740	81956740	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:81956740C>T	ENST00000336735.4	-	13	1440	c.1324G>A	c.(1324-1326)Gct>Act	p.A442T		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	442	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACCATGTCAGCAGCTTTCTTA	0.348																																						dbGAP											0													147.0	126.0	133.0					14																	81956740		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1324G>A	14.37:g.81956740C>T	ENSP00000337053:p.Ala442Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.A442T	ENST00000336735.4	37	c.1324	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848215	0.91277	.	.	ENSG00000071537	ENST00000336735	T	0.59083	0.29	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.053186	0.85682	D	0.000000	T	0.81616	0.4860	H	0.95151	3.63	0.80722	D	1	P	0.46656	0.882	P	0.54965	0.765	D	0.85497	0.1189	10	0.59425	D	0.04	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	442	Q9UBV2	SE1L1_HUMAN	T	442	ENSP00000337053:A442T	ENSP00000337053:A442T	A	-	1	0	SEL1L	81026493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.213000	0.58520	2.760000	0.94817	0.655000	0.94253	GCT	SEL1L	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000071537		0.348	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	142	0.00	0	C	NM_005065		81956740	81956740	-1	no_errors	ENST00000336735	ensembl	human	known	69_37n	missense	105	20.45	27	SNP	1.000	T
SEL1L3	23231	genome.wustl.edu	37	4	25836873	25836873	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:25836873C>A	ENST00000399878.3	-	3	928	c.806G>T	c.(805-807)aGg>aTg	p.R269M	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Missense_Mutation_p.R116M|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R234M	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	269						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTTCCGAAACCTCGGGAACTT	0.532																																						dbGAP											0													115.0	116.0	115.0					4																	25836873		1954	4143	6097	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.806G>T	4.37:g.25836873C>A	ENSP00000382767:p.Arg269Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.R269M	ENST00000399878.3	37	c.806	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794556	0.31777	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.17370	2.28;2.28;2.28	6.02	3.35	0.38373	.	0.485095	0.26731	N	0.022793	T	0.13970	0.0338	L	0.47716	1.5	0.29056	N	0.884178	P	0.50710	0.938	B	0.39876	0.312	T	0.10337	-1.0634	10	0.62326	D	0.03	-10.1621	7.4518	0.27242	0.0:0.66:0.0:0.34	.	269	Q68CR1	SE1L3_HUMAN	M	269;234;116	ENSP00000382767:R269M;ENSP00000264868:R234M;ENSP00000425438:R116M	ENSP00000264868:R234M	R	-	2	0	SEL1L3	25445971	0.420000	0.25457	0.822000	0.32727	0.298000	0.27526	0.246000	0.18160	0.427000	0.26145	0.655000	0.94253	AGG	SEL1L3	-	superfamily_ConA-like_lec_gl	ENSG00000091490		0.532	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	175	0.00	0	C	NM_015187		25836873	25836873	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	188	19.57	46	SNP	0.943	A
SEMA3C	10512	genome.wustl.edu	37	7	80427531	80427531	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:80427531G>A	ENST00000265361.3	-	11	1569	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	SEMA3C_ENST00000544525.1_Silent_p.A354A|SEMA3C_ENST00000419255.2_Silent_p.A336A|SEMA3C_ENST00000536800.1_Silent_p.A188A	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	336	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACACACACACGGCTGATCCTT	0.318																																						dbGAP											0													52.0	51.0	52.0					7																	80427531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1008C>T	7.37:g.80427531G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL8	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.A354	ENST00000265361.3	37	c.1062	CCDS5596.1	7																																																																																			SEMA3C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000075223		0.318	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	52	0.00	0	G	NM_006379		80427531	80427531	-1	no_errors	ENST00000544525	ensembl	human	known	69_37n	silent	48	20.00	12	SNP	0.828	A
SEMA4A	64218	genome.wustl.edu	37	1	156145219	156145219	+	Intron	SNP	G	G	A	rs116584820	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:156145219G>A	ENST00000368285.3	+	14	1859				SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000368282.1_Intron|SEMA4A_ENST00000355014.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCCATTCCGCGTTCCTCTC	0.542													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		19537	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1593-128G>A	1.37:g.156145219G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	RNA	SNP	-	NULL	ENST00000368285.3	37	NULL	CCDS1132.1	1																																																																																			SEMA4A	-	-	ENSG00000196189		0.542	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	174	0.00	0	G	NM_022367		156145219	156145219	+1	no_errors	ENST00000484155	ensembl	human	putative	69_37n	rna	148	29.19	61	SNP	0.041	A
SERINC1	57515	genome.wustl.edu	37	6	122777722	122777722	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:122777722C>T	ENST00000339697.4	-	3	359	c.275G>A	c.(274-276)cGt>cAt	p.R92H		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	92					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAAGCACAAACGATATACAGC	0.378																																						dbGAP											0													139.0	121.0	127.0					6																	122777722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.275G>A	6.37:g.122777722C>T	ENSP00000342962:p.Arg92His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	pfam_TMS_TDE	p.R92H	ENST00000339697.4	37	c.275	CCDS5125.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.566533	0.96540	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.33438	1.41;1.41	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72802	-0.4183	10	0.72032	D	0.01	-15.0022	20.1551	0.98106	0.0:1.0:0.0:0.0	.	92	Q9NRX5	SERC1_HUMAN	H	92	ENSP00000342962:R92H;ENSP00000357439:R92H	ENSP00000342962:R92H	R	-	2	0	SERINC1	122819421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	CGT	SERINC1	-	pfam_TMS_TDE	ENSG00000111897		0.378	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC1	HGNC	protein_coding	OTTHUMT00000042031.2	163	0.00	0	C	NM_020755		122777722	122777722	-1	no_errors	ENST00000339697	ensembl	human	known	69_37n	missense	170	16.26	33	SNP	1.000	T
SERPINB12	89777	genome.wustl.edu	37	18	61228376	61228376	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:61228376delA	ENST00000269491.1	+	4	443	c.443delA	c.(442-444)caafs	p.Q148fs	SERPINB12_ENST00000382768.1_Frame_Shift_Del_p.Q168fs	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	148					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GTTGATTTCCAAAAAAACCCT	0.383																																						dbGAP											0										7,4257		0,7,2125	91.0	88.0	89.0			3.8	0.2	18		91	0,8250		0,0,4125	no	frameshift	SERPINB12	NM_080474.1		0,7,6250	A1A1,A1R,RR		0.0,0.1642,0.0559			61228376	7,12507	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.443delA	18.37:g.61228376delA	ENSP00000269491:p.Gln148fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYB4	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.N150fs	ENST00000269491.1	37	c.443	CCDS11984.1	18																																																																																			SERPINB12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166634		0.383	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	130	0.00	0	A	NM_080474		61228376	61228376	+1	no_errors	ENST00000269491	ensembl	human	known	69_37n	frame_shift_del	72	30.56	33	DEL	0.009	-
SETMAR	6419	genome.wustl.edu	37	3	4354769	4354769	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:4354769delT	ENST00000358065.4	+	2	411	c.344delT	c.(343-345)gttfs	p.V115fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000462115.1_3'UTR|SETMAR_ENST00000430981.1_Frame_Shift_Del_p.V115fs|SETMAR_ENST00000425863.1_Frame_Shift_Del_p.V115fs	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	115	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GCAGAGCCTGTTTTTGAATGC	0.478								Chromatin Structure																														dbGAP											0													76.0	65.0	69.0					3																	4354769		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.344delT	3.37:g.4354769delT	ENSP00000373354:p.Val115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Frame_Shift_Del	DEL	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.F116fs	ENST00000358065.4	37	c.344	CCDS2563.2	3																																																																																			SETMAR	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000170364		0.478	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	103	0.00	0	T	NM_006515		4354769	4354769	+1	no_errors	ENST00000358065	ensembl	human	known	69_37n	frame_shift_del	57	13.24	9	DEL	0.952	-
SETX	23064	genome.wustl.edu	37	9	135221823	135221823	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:135221823A>T	ENST00000224140.5	-	4	395	c.213T>A	c.(211-213)aaT>aaA	p.N71K	SETX_ENST00000372169.2_Missense_Mutation_p.N71K|SETX_ENST00000393220.1_Missense_Mutation_p.N71K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	71					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTCAAAGTGATTTATGAGAC	0.358																																						dbGAP											0													72.0	69.0	70.0					9																	135221823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.213T>A	9.37:g.135221823A>T	ENSP00000224140:p.Asn71Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.N71K	ENST00000224140.5	37	c.213	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760902	0.49468	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.81739	-1.53;-1.53;-1.53	5.58	0.278	0.15673	.	0.433506	0.23051	N	0.052494	T	0.56659	0.2000	N	0.19112	0.55	0.23277	N	0.997991	P	0.34462	0.454	B	0.24974	0.057	T	0.50474	-0.8824	10	0.51188	T	0.08	.	1.8703	0.03207	0.3307:0.1523:0.3696:0.1474	.	71	Q7Z333	SETX_HUMAN	K	71	ENSP00000224140:N71K;ENSP00000361242:N71K;ENSP00000376913:N71K	ENSP00000224140:N71K	N	-	3	2	SETX	134211644	0.994000	0.37717	0.994000	0.49952	0.988000	0.76386	0.582000	0.23834	0.087000	0.17167	0.455000	0.32223	AAT	SETX	-	NULL	ENSG00000107290		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	54	0.00	0	A	NM_015046		135221823	135221823	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	0.793	T
SGMS2	166929	genome.wustl.edu	37	4	108829842	108829842	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:108829842C>T	ENST00000394684.4	+	6	1406	c.849C>T	c.(847-849)atC>atT	p.I283I	SGMS2_ENST00000359079.4_Silent_p.I283I|SGMS2_ENST00000394686.3_Silent_p.I283I|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	283					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		CTTATTATATCACAACACGAC	0.428																																						dbGAP											0													200.0	177.0	185.0					4																	108829842		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.849C>T	4.37:g.108829842C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S9|B2RA61	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase	p.I283	ENST00000394684.4	37	c.849	CCDS3677.1	4																																																																																			SGMS2	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000164023		0.428	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS2	HGNC	protein_coding	OTTHUMT00000254752.1	237	0.00	0	C	NM_152621		108829842	108829842	+1	no_errors	ENST00000359079	ensembl	human	known	69_37n	silent	147	19.67	36	SNP	1.000	T
SGOL1	151648	genome.wustl.edu	37	3	20225112	20225112	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:20225112T>C	ENST00000263753.4	-	3	466	c.327A>G	c.(325-327)gtA>gtG	p.V109V	SGOL1_ENST00000417364.1_Silent_p.V109V|SGOL1_ENST00000383774.1_Silent_p.V109V|SGOL1_ENST00000452020.1_Silent_p.V109V|SGOL1_ENST00000412868.1_Silent_p.V109V|SGOL1_ENST00000442720.1_Silent_p.V109V|SGOL1_ENST00000306698.2_Silent_p.V109V|SGOL1_ENST00000429446.3_Silent_p.V109V|SGOL1_ENST00000412997.1_Silent_p.V109V|SGOL1_ENST00000419233.2_Silent_p.V109V|SGOL1_ENST00000421451.1_Silent_p.V109V|SGOL1_ENST00000443724.1_Silent_p.V109V|SGOL1_ENST00000425061.1_Silent_p.V109V|SGOL1_ENST00000437051.1_Silent_p.V109V|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1-AS1_ENST00000448208.1_RNA	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	109	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GAGCAGGTTCTACTGTTTGTT	0.323																																						dbGAP											0													175.0	166.0	169.0					3																	20225112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.327A>G	3.37:g.20225112T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.V109	ENST00000263753.4	37	c.327	CCDS33716.1	3																																																																																			SGOL1	-	NULL	ENSG00000129810		0.323	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	244	0.00	0	T	NM_138484		20225112	20225112	-1	no_errors	ENST00000263753	ensembl	human	known	69_37n	silent	212	18.46	48	SNP	0.802	C
SH2B3	10019	genome.wustl.edu	37	12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:111885211G>A	ENST00000341259.2	+	6	1456	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	367	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CTGGTTCCACGGCCCCATCTC	0.622																																						dbGAP											0													67.0	72.0	70.0					12																	111885211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1099G>A	12.37:g.111885211G>A	ENSP00000345492:p.Gly367Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGG5|O95184	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.G165S	ENST00000341259.2	37	c.493	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.403533	0.96051	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.73363	-0.74;-0.74	5.0	5.0	0.66597	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.89639	0.3861	10	0.66056	D	0.02	-39.2809	18.6561	0.91455	0.0:0.0:1.0:0.0	.	165;231;367	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	S	367;177;165	ENSP00000345492:G367S;ENSP00000440597:G165S	ENSP00000345492:G367S	G	+	1	0	SH2B3	110369594	1.000000	0.71417	0.978000	0.43139	0.923000	0.55619	9.364000	0.97136	2.482000	0.83794	0.462000	0.41574	GGC	SH2B3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000111252		0.622	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	HGNC	protein_coding	OTTHUMT00000404779.1	92	0.00	0	G	NM_005475		111885211	111885211	+1	no_errors	ENST00000538307	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	1.000	A
SHMT1	6470	genome.wustl.edu	37	17	18238961	18238961	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:18238961G>A	ENST00000316694.3	-	8	977	c.843C>T	c.(841-843)ggC>ggT	p.G281G	SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron|SHMT1_ENST00000539052.1_Silent_p.G143G	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	281					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	GAATCTCTTTGCCAGTCTTGG	0.488																																						dbGAP											0													185.0	184.0	184.0					17																	18238961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.843C>T	17.37:g.18238961G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	p.G281	ENST00000316694.3	37	c.843	CCDS11196.1	17																																																																																			SHMT1	-	pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase	ENSG00000176974		0.488	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	133	0.00	0	G	NM_004169		18238961	18238961	-1	no_errors	ENST00000316694	ensembl	human	known	69_37n	silent	81	13.83	13	SNP	1.000	A
SIGLEC8	27181	genome.wustl.edu	37	19	51960770	51960770	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:51960770C>A	ENST00000321424.3	-	2	744	c.678G>T	c.(676-678)gtG>gtT	p.V226V	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	226	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGGCAAGGTCACCTGACAGG	0.657																																						dbGAP											0													55.0	51.0	52.0					19																	51960770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.678G>T	19.37:g.51960770C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z728	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V226	ENST00000321424.3	37	c.678	CCDS33086.1	19																																																																																			SIGLEC8	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000105366		0.657	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	85	0.00	0	C	NM_014442		51960770	51960770	-1	no_errors	ENST00000321424	ensembl	human	known	69_37n	silent	67	10.67	8	SNP	0.171	A
SIN3A	25942	genome.wustl.edu	37	15	75673981	75673983	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:75673981_75673983delCTC	ENST00000394947.3	-	18	3573_3575	c.3259_3261delGAG	c.(3259-3261)gagdel	p.E1087del	SIN3A_ENST00000394949.4_In_Frame_Del_p.E1087del|SIN3A_ENST00000360439.4_In_Frame_Del_p.E1087del	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATCCGAATTCTCCTCTTCTGTG	0.502																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3259_3261delGAG	15.37:g.75673984_75673986delCTC	ENSP00000378402:p.Glu1087del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.E1087in_frame_del	ENST00000394947.3	37	c.3261_3259	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.502	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	121	0.00	0	CTC	NM_015477		75673981	75673983	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	in_frame_del	76	13.48	12	DEL	0.997:1.000:1.000	-
SIPA1L3	23094	genome.wustl.edu	37	19	38632037	38632037	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:38632037A>G	ENST00000222345.6	+	11	3866	c.3357A>G	c.(3355-3357)atA>atG	p.I1119M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1119					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGACCCCCATAGTCCCCTTCC	0.652																																						dbGAP											0													51.0	58.0	56.0					19																	38632037		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.3357A>G	19.37:g.38632037A>G	ENSP00000222345:p.Ile1119Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.I1119M	ENST00000222345.6	37	c.3357	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636814	0.29068	.	.	ENSG00000105738	ENST00000222345	T	0.75589	-0.95	4.57	3.48	0.39840	.	0.821477	0.11265	N	0.582162	T	0.53094	0.1775	N	0.08118	0	0.23271	N	0.998006	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.33141	T	0.24	-12.1855	8.2129	0.31494	0.1872:0.0:0.8128:0.0	.	1119	O60292	SI1L3_HUMAN	M	1119	ENSP00000222345:I1119M	ENSP00000222345:I1119M	I	+	3	3	SIPA1L3	43323877	0.985000	0.35326	0.999000	0.59377	0.949000	0.60115	1.375000	0.34295	1.144000	0.42321	-0.637000	0.03976	ATA	SIPA1L3	-	NULL	ENSG00000105738		0.652	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	71	0.00	0	A	XM_032278		38632037	38632037	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	0.900	G
SLC10A6	345274	genome.wustl.edu	37	4	87746685	87746685	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:87746685C>G	ENST00000273905.6	-	5	954	c.807G>C	c.(805-807)atG>atC	p.M269I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	269					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TGGTGATGCACATCTGAATAT	0.418																																						dbGAP											0													89.0	80.0	83.0					4																	87746685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.807G>C	4.37:g.87746685C>G	ENSP00000273905:p.Met269Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.M269I	ENST00000273905.6	37	c.807	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695076	0.48202	.	.	ENSG00000145283	ENST00000273905	T	0.61980	0.06	5.35	5.35	0.76521	.	0.189614	0.47455	D	0.000238	T	0.52306	0.1726	L	0.28556	0.865	0.36271	D	0.855159	B	0.24533	0.105	B	0.20577	0.03	T	0.56817	-0.7916	10	0.45353	T	0.12	-24.5469	16.9122	0.86143	0.0:1.0:0.0:0.0	.	269	Q3KNW5	SOAT_HUMAN	I	269	ENSP00000273905:M269I	ENSP00000273905:M269I	M	-	3	0	SLC10A6	87965709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.886000	0.56190	2.668000	0.90789	0.655000	0.94253	ATG	SLC10A6	-	tigrfam_Bil_ac_transpt	ENSG00000145283		0.418	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	100	0.00	0	C	NM_197965		87746685	87746685	-1	no_errors	ENST00000273905	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	1.000	G
SLC12A7	10723	genome.wustl.edu	37	5	1065482	1065482	+	Missense_Mutation	SNP	C	C	T	rs559843361	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:1065482C>T	ENST00000264930.5	-	18	2396	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	785					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGCTTCAGGCCGCCCAGGCCG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		18053	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													62.0	64.0	63.0					5																	1065482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2353G>A	5.37:g.1065482C>T	ENSP00000264930:p.Gly785Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G785S	ENST00000264930.5	37	c.2353	CCDS34129.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	20.9|20.9	4.066781|4.066781	0.76301|0.76301	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.94793|.	-3.52|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.055536|.	0.64402|.	D|.	0.000001|.	T|T	0.74612|0.74612	0.3739|0.3739	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.46479|.	0.518|.	T|T	0.76350|0.76350	-0.2991|-0.2991	10|5	0.66056|.	D|.	0.02|.	.|.	15.7172|15.7172	0.77677|0.77677	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	785|.	Q9Y666|.	S12A7_HUMAN|.	S|Q	785|142	ENSP00000264930:G785S|.	ENSP00000264930:G785S|.	G|R	-|-	1|2	0|0	SLC12A7|SLC12A7	1118482|1118482	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.860000|0.860000	0.49131|0.49131	5.186000|5.186000	0.65082|0.65082	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	GGC|CGG	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.627	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	23	0.00	0	C	NM_006598		1065482	1065482	-1	no_errors	ENST00000264930	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	T
SLC12A2	6558	genome.wustl.edu	37	5	127510242	127510242	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:127510242T>C	ENST00000262461.2	+	20	3002	c.2813T>C	c.(2812-2814)tTg>tCg	p.L938S	SLC12A2_ENST00000343225.4_Missense_Mutation_p.L938S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	938					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GAAGAATTATTGTCATCACAA	0.294																																						dbGAP											0													44.0	46.0	45.0					5																	127510242		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2813T>C	5.37:g.127510242T>C	ENSP00000262461:p.Leu938Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L938S	ENST00000262461.2	37	c.2813	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286807	0.40494	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.85339	-1.97;-1.96	5.4	5.4	0.78164	.	0.175879	0.38720	N	0.001581	T	0.82144	0.4973	M	0.76328	2.33	0.58432	D	0.999999	P;P	0.41848	0.763;0.651	B;B	0.36608	0.229;0.115	T	0.80874	-0.1187	10	0.08179	T	0.78	.	15.2648	0.73651	0.0:0.0:0.0:1.0	.	938;938	P55011-3;P55011	.;S12A2_HUMAN	S	938	ENSP00000262461:L938S;ENSP00000340878:L938S	ENSP00000262461:L938S	L	+	2	0	SLC12A2	127538141	1.000000	0.71417	0.637000	0.29366	0.954000	0.61252	6.557000	0.73937	2.263000	0.75096	0.533000	0.62120	TTG	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.294	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	80	0.00	0	T	NM_001046		127510242	127510242	+1	no_errors	ENST00000262461	ensembl	human	known	69_37n	missense	37	51.95	40	SNP	0.998	C
SLC16A1	6566	genome.wustl.edu	37	1	113471890	113471890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:113471890delG	ENST00000538576.1	-	2	872	c.41delC	c.(40-42)ccafs	p.P14fs	SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Frame_Shift_Del_p.P14fs|SLC16A1_ENST00000369626.3_Frame_Shift_Del_p.P14fs	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	14					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	GCCTCCATCTGGGGGGGTGTA	0.423																																						dbGAP											0													39.0	41.0	40.0					1																	113471890		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.41delC	1.37:g.113471890delG	ENSP00000441065:p.Pro14fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A45|Q5T8R6|Q9NSJ9	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.P14fs	ENST00000538576.1	37	c.41	CCDS858.1	1																																																																																			SLC16A1	-	tigrfam_Monocarb_transpt	ENSG00000155380		0.423	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	69	0.00	0	G	NM_003051		113471890	113471890	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	frame_shift_del	64	14.47	11	DEL	1.000	-
SLC16A2	6567	genome.wustl.edu	37	X	73744262	73744262	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:73744262C>T	ENST00000587091.1	+	3	821	c.644C>T	c.(643-645)cCa>cTa	p.P215L	SLC16A2_ENST00000276033.5_Missense_Mutation_p.P289L	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	215					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GCCTTTCAGCCATCCCTCGTC	0.557																																						dbGAP											0													126.0	101.0	110.0					X																	73744262		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.644C>T	X.37:g.73744262C>T	ENSP00000465734:p.Pro215Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P289L	ENST00000587091.1	37	c.866	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773079	0.90108	.	.	ENSG00000147100	ENST00000276033	T	0.28255	1.62	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.87682	2.9	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.69555	-0.5114	10	0.87932	D	0	.	18.9389	0.92597	0.0:1.0:0.0:0.0	.	215	P36021	MOT8_HUMAN	L	289	ENSP00000276033:P289L	ENSP00000276033:P289L	P	+	2	0	SLC16A2	73660987	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.485000	0.81204	2.420000	0.82092	0.597000	0.82753	CCA	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000147100		0.557	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	79	0.00	0	C			73744262	73744262	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	missense	25	45.65	21	SNP	1.000	T
SLC18A1	6570	genome.wustl.edu	37	8	20028926	20028926	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:20028926T>C	ENST00000276373.5	-	7	1070	c.804A>G	c.(802-804)ctA>ctG	p.L268L	SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000519026.1_Silent_p.L268L|SLC18A1_ENST00000437980.1_Silent_p.L268L|SLC18A1_ENST00000381608.4_Silent_p.L268L|SLC18A1_ENST00000440926.1_Silent_p.L268L|SLC18A1_ENST00000265808.7_Silent_p.L268L	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	268					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CTCCATCCAGTAGTGCCAGGA	0.522																																						dbGAP											0													149.0	134.0	139.0					8																	20028926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.804A>G	8.37:g.20028926T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.L268	ENST00000276373.5	37	c.804	CCDS6013.1	8																																																																																			SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	ENSG00000036565		0.522	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	195	0.51	1	T			20028926	20028926	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	silent	80	49.37	78	SNP	0.080	C
SLC25A6	293	genome.wustl.edu	37	X	1508427	1508427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:1508427delC	ENST00000381401.5	-	2	1019	c.305delG	c.(304-306)ggcfs	p.G102fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	102					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGTCCACGCCCCCCAGGAA	0.607																																						dbGAP											0													206.0	203.0	204.0					X																	1508427		2203	4296	6499	-	-	-	SO:0001589	frameshift_variant	0			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.305delG	X.37:g.1508427delC	ENSP00000370808:p.Gly102fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C49	Frame_Shift_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.G102fs	ENST00000381401.5	37	c.305	CCDS14114.1	X																																																																																			SLC25A6	-	superfamily_Mt_carrier_dom	ENSG00000169100		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	88	0.00	0	C	NM_001636		1508427	1508427	-1	no_errors	ENST00000381401	ensembl	human	known	69_37n	frame_shift_del	27	36.36	16	DEL	0.982	-
SLC25A14	9016	genome.wustl.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:129480618G>A	ENST00000218197.5	+	3	497	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000543953.1_Silent_p.A55A	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													G|||	1	0.000264901	0.0	0.0	3775	,	,		14623	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													154.0	140.0	145.0					X																	129480618		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.270G>A	X.37:g.129480618G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A87	ENST00000218197.5	37	c.261	CCDS14623.1	X																																																																																			SLC25A14	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000102078		0.423	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	318	0.00	0	G	NM_022810, NM_003951		129480618	129480618	+1	no_errors	ENST00000339231	ensembl	human	known	69_37n	silent	142	31.73	66	SNP	0.158	A
SLC30A4	7782	genome.wustl.edu	37	15	45814234	45814234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:45814234G>A	ENST00000261867.4	-	2	633	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	107					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		ACCTTTCTCTGCTTCAGTATC	0.463																																						dbGAP											0													214.0	182.0	193.0					15																	45814234		2198	4298	6496	-	-	-	SO:0001587	stop_gained	0				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.319C>T	15.37:g.45814234G>A	ENSP00000261867:p.Gln107*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC39	Nonsense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.Q107*	ENST00000261867.4	37	c.319	CCDS10125.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.785197	0.98489	.	.	ENSG00000104154	ENST00000261867	.	.	.	5.34	4.41	0.53225	.	0.518053	0.22199	N	0.063267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-3.2092	13.1942	0.59728	0.0796:0.0:0.9204:0.0	.	.	.	.	X	107	.	ENSP00000261867:Q107X	Q	-	1	0	SLC30A4	43601526	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.952000	0.70282	2.508000	0.84585	0.655000	0.94253	CAG	SLC30A4	-	NULL	ENSG00000104154		0.463	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1	124	0.00	0	G			45814234	45814234	-1	no_errors	ENST00000261867	ensembl	human	known	69_37n	nonsense	54	23.94	17	SNP	1.000	A
SLC30A5	64924	genome.wustl.edu	37	5	68425349	68425349	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:68425349A>G	ENST00000396591.3	+	16	2813	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	735					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTCAACATATGTCTGGCCT	0.338																																						dbGAP											0													114.0	112.0	112.0					5																	68425349		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2203A>G	5.37:g.68425349A>G	ENSP00000379836:p.Met735Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.M735V	ENST00000396591.3	37	c.2203	CCDS3996.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.283116|3.283116	0.59867|0.59867	.|.	.|.	ENSG00000145740|ENSG00000145740	ENST00000511158|ENST00000396591;ENST00000438236	.|T	.|0.63744	.|-0.06	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66577|0.66577	0.2803|0.2803	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40332	.|0.713;0.713	.|P;P	.|0.54815	.|0.678;0.761	T|T	0.63576|0.63576	-0.6606|-0.6606	5|10	.|0.30854	.|T	.|0.27	.|.	15.5476|15.5476	0.76118|0.76118	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|564;735	.|Q9H9X0;Q8TAD4	.|.;ZNT5_HUMAN	M|V	53|735;330	.|ENSP00000379836:M735V	.|ENSP00000379836:M735V	I|M	+|+	3|1	3|0	SLC30A5|SLC30A5	68461105|68461105	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.301000|7.301000	0.78850|0.78850	2.140000|2.140000	0.66376|0.66376	0.460000|0.460000	0.39030|0.39030	ATA|ATG	SLC30A5	-	NULL	ENSG00000145740		0.338	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	98	0.00	0	A			68425349	68425349	+1	no_errors	ENST00000396591	ensembl	human	known	69_37n	missense	67	27.17	25	SNP	1.000	G
SLC35C1	55343	genome.wustl.edu	37	11	45832724	45832724	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:45832724C>T	ENST00000314134.3	+	2	2329	c.933C>T	c.(931-933)gcC>gcT	p.A311A	SLC35C1_ENST00000442528.2_Silent_p.A298A|SLC35C1_ENST00000456334.1_Silent_p.A298A|CTD-2210P24.6_ENST00000534128.1_lincRNA	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	311					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAGTGCTGGCCGTGCTCTACT	0.617																																						dbGAP											0													48.0	49.0	49.0					11																	45832724		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.933C>T	11.37:g.45832724C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	pfam_DUF250,pfam_UAA,pfam_DMT	p.A311	ENST00000314134.3	37	c.933	CCDS7914.1	11																																																																																			SLC35C1	-	pfam_DUF250,pfam_UAA	ENSG00000181830		0.617	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	17	0.00	0	C	NM_018389		45832724	45832724	+1	no_errors	ENST00000314134	ensembl	human	known	69_37n	silent	13	23.53	4	SNP	0.707	T
SLC36A2	153201	genome.wustl.edu	37	5	150704982	150704982	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:150704982G>A	ENST00000335244.4	-	8	1004	c.875C>T	c.(874-876)gCc>gTc	p.A292V	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A16V|SLC36A2_ENST00000521967.1_Missense_Mutation_p.A292V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GAAGTGGCGGGCATTCTTCAT	0.463																																						dbGAP											0													91.0	83.0	86.0					5																	150704982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.875C>T	5.37:g.150704982G>A	ENSP00000334223:p.Ala292Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A292V	ENST00000335244.4	37	c.875	CCDS4315.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.78|18.78	3.697637|3.697637	0.68386|0.68386	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967|ENST00000523044	T;T;T|.	0.02280|.	4.36;4.36;4.36|.	4.82|4.82	3.88|3.88	0.44766|0.44766	.|.	0.355560|.	0.31461|.	N|.	0.007609|.	T|T	0.60958|0.60958	0.2309|0.2309	L|L	0.44542|0.44542	1.39|1.39	0.36967|0.36967	D|D	0.893627|0.893627	B;B|.	0.20780|.	0.048;0.017|.	B;B|.	0.33121|.	0.158;0.071|.	T|T	0.63488|0.63488	-0.6626|-0.6626	10|5	0.87932|.	D|.	0|.	-6.7194|-6.7194	15.84|15.84	0.78837|0.78837	0.0:0.136:0.864:0.0|0.0:0.136:0.864:0.0	.|.	292;292|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	V|S	292;16;292|45	ENSP00000334223:A292V;ENSP00000399479:A16V;ENSP00000430535:A292V|.	ENSP00000334223:A292V|.	A|P	-|-	2|1	0|0	SLC36A2|SLC36A2	150685175|150685175	0.994000|0.994000	0.37717|0.37717	0.978000|0.978000	0.43139|0.43139	0.801000|0.801000	0.45260|0.45260	7.277000|7.277000	0.78572|0.78572	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	GCC|CCC	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.463	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	106	0.00	0	G			150704982	150704982	-1	no_errors	ENST00000335244	ensembl	human	known	69_37n	missense	70	11.39	9	SNP	0.931	A
SLC38A7	55238	genome.wustl.edu	37	16	58705111	58705111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:58705111delC	ENST00000570101.1	-	9	1952	c.1069delG	c.(1069-1071)gtgfs	p.V357fs	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.V357fs|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.V268fs			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	357					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TCCACTGGCACCCCCTGGTAG	0.677																																						dbGAP											0													29.0	34.0	33.0					16																	58705111		2195	4300	6495	-	-	-	SO:0001589	frameshift_variant	0			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1069delG	16.37:g.58705111delC	ENSP00000454646:p.Val357fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GJ9|Q9H9I5	Frame_Shift_Del	DEL	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.V357fs	ENST00000570101.1	37	c.1069	CCDS10800.1	16																																																																																			SLC38A7	-	pfam_AA_transpt_TM	ENSG00000103042		0.677	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	25	0.00	0	C	NM_018231		58705111	58705111	-1	no_errors	ENST00000219320	ensembl	human	known	69_37n	frame_shift_del	9	40.00	6	DEL	0.001	-
SLC46A2	57864	genome.wustl.edu	37	9	115652996	115652996	+	5'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:115652996G>A	ENST00000374228.4	-	0	197					NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2						negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGGCTTTCTGGCTGCAGTGAC	0.647																																						dbGAP											0													14.0	17.0	16.0					9																	115652996		2183	4273	6456	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.-35C>T	9.37:g.115652996G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALK1|Q86VT0|Q96NE2	RNA	SNP	-	NULL	ENST00000374228.4	37	NULL	CCDS6786.1	9																																																																																			SLC46A2	-	-	ENSG00000119457		0.647	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	17	0.00	0	G	NM_033051		115652996	115652996	-1	no_errors	ENST00000491462	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	0.000	A
SLC4A1	6521	genome.wustl.edu	37	17	42327840	42327840	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:42327840C>T	ENST00000262418.6	-	20	2877	c.2722G>A	c.(2722-2724)Gcc>Acc	p.A908T	AC003102.1_ENST00000399246.2_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	908	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGGCATGGCCACTTCGTCG	0.592																																						dbGAP											0													102.0	71.0	82.0					17																	42327840		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.2722G>A	17.37:g.42327840C>T	ENSP00000262418:p.Ala908Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.A908T	ENST00000262418.6	37	c.2722	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.550435	0.00926	.	.	ENSG00000004939	ENST00000262418	T	0.74002	-0.8	4.91	-6.27	0.02026	.	1.428110	0.04356	N	0.356588	T	0.46833	0.1413	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.42616	-0.9441	10	0.16420	T	0.52	.	12.7301	0.57193	0.0:0.4957:0.2216:0.2827	.	908	P02730	B3AT_HUMAN	T	908	ENSP00000262418:A908T	ENSP00000262418:A908T	A	-	1	0	SLC4A1	39683366	0.176000	0.23096	0.002000	0.10522	0.005000	0.04900	0.618000	0.24373	-1.155000	0.02822	-1.303000	0.01326	GCC	SLC4A1	-	tigrfam_HCO3_transpt_euk	ENSG00000004939		0.592	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	51	0.00	0	C	NM_000342		42327840	42327840	-1	no_errors	ENST00000262418	ensembl	human	known	69_37n	missense	13	50.00	13	SNP	0.130	T
SLC4A2	6522	genome.wustl.edu	37	7	150771315	150771315	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:150771315G>A	ENST00000485713.1	+	17	3765	c.2725G>A	c.(2725-2727)Gcc>Acc	p.A909T	RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A909T|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A895T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A900T|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A827T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	909	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGCTCATGGCCGGCACCTT	0.657																																						dbGAP											0													32.0	37.0	35.0					7																	150771315		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2725G>A	7.37:g.150771315G>A	ENSP00000419412:p.Ala909Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.A909T	ENST00000485713.1	37	c.2725	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416332	0.83449	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.54	4.65	0.58169	Bicarbonate transporter, C-terminal (1);	0.060882	0.64402	D	0.000004	D	0.83285	0.5221	M	0.75777	2.31	0.47094	D	0.999311	P;P;P	0.39157	0.611;0.611;0.662	B;P;P	0.50537	0.408;0.511;0.643	D	0.84770	0.0767	10	0.66056	D	0.02	.	12.5463	0.56201	0.0808:0.0:0.9192:0.0	.	900;895;909	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	T	909;909;827;900;895	ENSP00000419412:A909T;ENSP00000405600:A909T;ENSP00000311402:A827T;ENSP00000376571:A900T;ENSP00000419164:A895T	ENSP00000311402:A827T	A	+	1	0	SLC4A2	150402248	0.911000	0.30947	0.998000	0.56505	0.977000	0.68977	1.249000	0.32839	2.607000	0.88179	0.561000	0.74099	GCC	SLC4A2	-	pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.657	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	26	0.00	0	G	NM_003040		150771315	150771315	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	A
SLC5A10	125206	genome.wustl.edu	37	17	18922757	18922757	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:18922757C>T	ENST00000395645.3	+	12	1281	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	SLC5A10_ENST00000395647.2_Silent_p.I437I|SLC5A10_ENST00000395643.2_Silent_p.I394I|SLC5A10_ENST00000395642.1_Silent_p.I391I|SLC5A10_ENST00000417251.2_Silent_p.I385I|SLC5A10_ENST00000317977.6_Silent_p.I391I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	421					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGGCACTCATCGGCGTGAGTG	0.622																																						dbGAP											0													57.0	48.0	51.0					17																	18922757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1263C>T	17.37:g.18922757C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I437	ENST00000395645.3	37	c.1311	CCDS42275.1	17																																																																																			SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.622	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	24	0.00	0	C	NM_152351		18922757	18922757	+1	no_errors	ENST00000395647	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.995	T
SLC5A9	200010	genome.wustl.edu	37	1	48699340	48699340	+	Silent	SNP	C	C	T	rs201757852		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:48699340C>T	ENST00000438567.2	+	9	1099	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	SLC5A9_ENST00000236495.5_Silent_p.C374C|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.C370C	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	349					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGTGGGCTGCGTGGACCCTG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17500	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													151.0	115.0	127.0					1																	48699340		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1047C>T	1.37:g.48699340C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R281C	ENST00000438567.2	37	c.841	CCDS30709.2	1																																																																																			SLC5A9	-	NULL	ENSG00000117834		0.517	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	69	0.00	0	C	XM_117174		48699340	48699340	+1	no_errors	ENST00000425816	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	0.947	T
SLC6A15	55117	genome.wustl.edu	37	12	85285703	85285703	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:85285703C>T	ENST00000266682.5	-	2	738	c.197G>A	c.(196-198)aGt>aAt	p.S66N	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.S66N	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	66					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTGTAGTTTACTGTTCCAAGC	0.413																																						dbGAP											0													148.0	133.0	138.0					12																	85285703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.197G>A	12.37:g.85285703C>T	ENSP00000266682:p.Ser66Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	p.S66N	ENST00000266682.5	37	c.197	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	C	4.389	0.071837	0.08436	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.78126	-1.15;-1.15;-1.15	5.53	1.71	0.24356	.	0.075202	0.85682	N	0.000000	T	0.54806	0.1881	N	0.11789	0.175	0.47094	D	0.999318	B;B	0.13145	0.005;0.007	B;B	0.26969	0.075;0.024	T	0.45948	-0.9226	10	0.02654	T	1	.	9.8614	0.41116	0.0:0.7281:0.0:0.2719	.	66;66	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	N	66	ENSP00000266682:S66N;ENSP00000390706:S66N;ENSP00000448308:S66N	ENSP00000266682:S66N	S	-	2	0	SLC6A15	83809834	1.000000	0.71417	0.990000	0.47175	0.831000	0.47069	1.340000	0.33896	0.398000	0.25338	0.655000	0.94253	AGT	SLC6A15	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000072041		0.413	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	208	0.00	0	C	NM_018057, NM_182767		85285703	85285703	-1	no_errors	ENST00000266682	ensembl	human	known	69_37n	missense	220	17.78	48	SNP	1.000	T
SLC6A3	6531	genome.wustl.edu	37	5	1432721	1432721	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:1432721A>G	ENST00000270349.9	-	4	638	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.F171L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	171					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCGTGGTGAAGGAGGAGAAG	0.587																																						dbGAP											0													152.0	135.0	140.0					5																	1432721		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.511T>C	5.37:g.1432721A>G	ENSP00000270349:p.Phe171Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.F171L	ENST00000270349.9	37	c.511	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	A	15.63	2.891620	0.52014	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.75050	-0.9;-0.9;-0.9	4.34	4.34	0.51931	.	0.128903	0.56097	D	0.000027	T	0.71005	0.3289	L	0.55213	1.73	0.58432	D	0.999999	B	0.20052	0.041	B	0.30716	0.119	T	0.70226	-0.4930	10	0.51188	T	0.08	.	11.5301	0.50604	1.0:0.0:0.0:0.0	.	171	Q01959	SC6A3_HUMAN	L	171;171;97	ENSP00000270349:F171L;ENSP00000399806:F171L;ENSP00000429101:F97L	ENSP00000270349:F171L	F	-	1	0	SLC6A3	1485721	1.000000	0.71417	0.994000	0.49952	0.590000	0.36582	4.457000	0.60088	1.815000	0.52974	0.482000	0.46254	TTC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.587	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	35	0.00	0	A	NM_001044		1432721	1432721	-1	no_errors	ENST00000270349	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170244694	170244694	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:170244694C>T	ENST00000231706.5	-	2	347	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	11					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTGCACCCGCCGGGGGTCCAG	0.587																																						dbGAP											0													44.0	42.0	42.0					3																	170244694		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.32G>A	3.37:g.170244694C>T	ENSP00000231706:p.Arg11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.R11Q	ENST00000231706.5	37	c.32	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977461	0.74360	.	.	ENSG00000013293	ENST00000231706	D	0.88975	-2.45	5.26	4.36	0.52297	.	0.066131	0.64402	D	0.000008	D	0.86594	0.5970	L	0.27053	0.805	0.47153	D	0.999337	D	0.69078	0.997	P	0.49887	0.625	D	0.88288	0.2941	10	0.72032	D	0.01	.	15.8927	0.79312	0.0:0.8642:0.1358:0.0	.	11	Q8TBB6	S7A14_HUMAN	Q	11	ENSP00000231706:R11Q	ENSP00000231706:R11Q	R	-	2	0	SLC7A14	171727388	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	5.618000	0.67722	1.296000	0.44742	0.561000	0.74099	CGG	SLC7A14	-	NULL	ENSG00000013293		0.587	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	57	0.00	0	C	NM_020949		170244694	170244694	-1	no_errors	ENST00000231706	ensembl	human	known	69_37n	missense	56	17.14	12	SNP	1.000	T
SLC7A7	9056	genome.wustl.edu	37	14	23243598	23243598	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:23243598G>A	ENST00000397532.3	-	8	1735	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SLC7A7_ENST00000555702.1_Missense_Mutation_p.R404C|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R138C|SLC7A7_ENST00000285850.7_Missense_Mutation_p.R404C|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R404C|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R404C			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	404					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TCCTTCCAGCGCAGATAAAGC	0.502																																						dbGAP											0													182.0	171.0	175.0					14																	23243598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1210C>T	14.37:g.23243598G>A	ENSP00000380666:p.Arg404Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.R404C	ENST00000397532.3	37	c.1210	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827397	0.90955	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	6.17	5.28	0.74379	.	0.046417	0.85682	N	0.000000	D	0.98018	0.9347	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99232	1.0882	10	0.87932	D	0	.	14.6862	0.69052	0.0703:0.0:0.9297:0.0	.	404	Q9UM01	YLAT1_HUMAN	C	404;404;404;377;404;404;138	ENSP00000285850:R404C;ENSP00000451881:R404C;ENSP00000380666:R404C;ENSP00000380663:R404C;ENSP00000380662:R404C;ENSP00000452083:R138C	ENSP00000285850:R404C	R	-	1	0	SLC7A7	22313438	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	7.493000	0.81493	1.626000	0.50381	0.655000	0.94253	CGC	SLC7A7	-	pirsf_AA/rel_permease1	ENSG00000155465		0.502	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	378	0.00	0	G			23243598	23243598	-1	no_errors	ENST00000285850	ensembl	human	known	69_37n	missense	240	27.05	89	SNP	1.000	A
SLC7A9	11136	genome.wustl.edu	37	19	33353088	33353088	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:33353088C>T	ENST00000023064.4	-	6	831	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	SLC7A9_ENST00000590341.1_Missense_Mutation_p.A214T|SLC7A9_ENST00000587772.1_Missense_Mutation_p.A214T|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	214					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GACAGCTGGGCGCCCTCGAAA	0.537																																					GBM(181;1335 2108 9644 44178 46689)	dbGAP											0													84.0	81.0	82.0					19																	33353088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.640G>A	19.37:g.33353088C>T	ENSP00000023064:p.Ala214Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A6	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.A214T	ENST00000023064.4	37	c.640	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.417804	0.01136	.	.	ENSG00000021488	ENST00000023064	D	0.89746	-2.56	5.12	-10.2	0.00374	Amino acid permease domain (1);	0.648563	0.16644	N	0.205504	T	0.52191	0.1719	N	0.01091	-1.02	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64630	-0.6362	10	0.02654	T	1	.	2.5291	0.04698	0.254:0.1875:0.0839:0.4746	.	214	P82251	BAT1_HUMAN	T	214	ENSP00000023064:A214T	ENSP00000023064:A214T	A	-	1	0	SLC7A9	38044928	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-3.723000	0.00383	-2.637000	0.00431	-0.254000	0.11334	GCC	SLC7A9	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.537	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	103	0.00	0	C			33353088	33353088	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	missense	107	13.71	17	SNP	0.000	T
SLC9A2	6549	genome.wustl.edu	37	2	103324829	103324829	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:103324829G>A	ENST00000233969.2	+	12	2462	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	774					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGACCAGTCTGGCTCAGAGAG	0.602																																						dbGAP											0													109.0	116.0	114.0					2																	103324829		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2320G>A	2.37:g.103324829G>A	ENSP00000233969:p.Gly774Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G774S	ENST00000233969.2	37	c.2320	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263666	0.23136	.	.	ENSG00000115616	ENST00000233969	T	0.57595	0.39	5.36	3.55	0.40652	.	0.919970	0.09179	N	0.837719	T	0.34658	0.0905	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20438	-1.0275	10	0.05721	T	0.95	.	9.7501	0.40470	0.1611:0.0:0.8389:0.0	.	774	Q9UBY0	SL9A2_HUMAN	S	774	ENSP00000233969:G774S	ENSP00000233969:G774S	G	+	1	0	SLC9A2	102691261	0.676000	0.27567	0.001000	0.08648	0.008000	0.06430	2.251000	0.43187	0.631000	0.30412	0.650000	0.86243	GGC	SLC9A2	-	NULL	ENSG00000115616		0.602	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	260	0.38	1	G			103324829	103324829	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	missense	174	19.72	43	SNP	0.008	A
SLC9A8	23315	genome.wustl.edu	37	20	48500497	48500497	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:48500497T>C	ENST00000361573.2	+	14	1427	c.1385T>C	c.(1384-1386)cTg>cCg	p.L462P	SLC9A8_ENST00000541138.1_Missense_Mutation_p.L162P|SLC9A8_ENST00000539601.1_Missense_Mutation_p.L243P|SLC9A8_ENST00000417961.1_Missense_Mutation_p.L478P			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	462					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ACCATCCTGCTGCTGGGCGGC	0.607																																						dbGAP											0													192.0	141.0	158.0					20																	48500497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1385T>C	20.37:g.48500497T>C	ENSP00000354966:p.Leu462Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L478P	ENST00000361573.2	37	c.1433	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208845	0.58343	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.07	5.07	0.68467	Cation/H+ exchanger (1);	0.143965	0.48286	D	0.000194	T	0.22898	0.0553	M	0.68952	2.095	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.15870	0.008;0.006;0.014	T	0.03278	-1.1053	10	0.87932	D	0	.	14.8166	0.70039	0.0:0.0:0.0:1.0	.	162;243;462	B4DIV9;B4DIX7;Q9Y2E8	.;.;SL9A8_HUMAN	P	478;462;162;243	ENSP00000416418:L478P;ENSP00000354966:L462P;ENSP00000441615:L162P;ENSP00000441716:L243P	ENSP00000354966:L462P	L	+	2	0	SLC9A8	47933904	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.511000	0.81718	1.909000	0.55274	0.459000	0.35465	CTG	SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.607	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	90	0.00	0	T	XM_030524		48500497	48500497	+1	no_errors	ENST00000417961	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	C
SLC9C1	285335	genome.wustl.edu	37	3	111940058	111940059	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:111940058_111940059delTC	ENST00000305815.5	-	14	1838_1839	c.1586_1587delGA	c.(1585-1587)agafs	p.R529fs	SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.R481fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	529					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TCCTGTATTGTCTCTGGTAGCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1586_1587delGA	3.37:g.111940060_111940061delTC	ENSP00000306627:p.Arg529fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R529fs	ENST00000305815.5	37	c.1587_1586	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.366	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	108	0.00	0	TC	NM_183061		111940058	111940059	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	frame_shift_del	91	27.20	34	DEL	1.000:1.000	-
SLC9C1	285335	genome.wustl.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:111999618C>A	ENST00000305815.5	-	3	353	c.101G>T	c.(100-102)cGg>cTg	p.R34L	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						dbGAP											0													60.0	63.0	62.0					3																	111999618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>T	3.37:g.111999618C>A	ENSP00000306627:p.Arg34Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R34L	ENST00000305815.5	37	c.101	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.528154	0.04112	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.14	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.45135	0.1327	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33752	-0.9856	10	0.11182	T	0.66	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	34	ENSP00000306627:R34L;ENSP00000420688:R34L	ENSP00000306627:R34L	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	69	0.00	0	C	NM_183061		111999618	111999618	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.006	A
SLCO1A2	6579	genome.wustl.edu	37	12	21457362	21457362	+	Splice_Site	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:21457362A>G	ENST00000307378.6	-	7	1308	c.588T>C	c.(586-588)atT>atC	p.I196I	SLCO1A2_ENST00000537524.1_Splice_Site_p.I64I|SLCO1A2_ENST00000458504.1_Splice_Site_p.I64I|SLCO1A2_ENST00000390670.3_Splice_Site_p.I194I|SLCO1A2_ENST00000452078.1_Splice_Site_p.I196I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	196					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CATACTTACCAATATATAAAG	0.338																																						dbGAP											0													45.0	49.0	48.0					12																	21457362		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.589+1T>C	12.37:g.21457362A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UGP7|Q9UL38	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.I196	ENST00000307378.6	37	c.588	CCDS8686.1	12																																																																																			SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.338	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	136	0.73	1	A	NM_021094	Silent	21457362	21457362	-1	no_errors	ENST00000307378	ensembl	human	known	69_37n	silent	138	19.19	33	SNP	1.000	G
SLCO1A2	6579	genome.wustl.edu	37	12	21457423	21457423	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:21457423A>G	ENST00000307378.6	-	7	1247	c.527T>C	c.(526-528)cTg>cCg	p.L176P	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L44P|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L44P|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L174P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L176P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	176					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACCCAAAGGCAGGATGGGAGT	0.353																																						dbGAP											0													84.0	82.0	83.0					12																	21457423		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.527T>C	12.37:g.21457423A>G	ENSP00000305974:p.Leu176Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L176P	ENST00000307378.6	37	c.527	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316030	0.40996	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	4.75	3.54	0.40534	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.237498	0.48286	D	0.000187	T	0.44307	0.1287	L	0.34521	1.04	0.43304	D	0.995309	P;P;B	0.43633	0.753;0.813;0.187	B;B;B	0.43754	0.26;0.43;0.233	T	0.42015	-0.9476	10	0.51188	T	0.08	.	4.4183	0.11468	0.674:0.0:0.1633:0.1627	.	156;174;176	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	P	176;176;44;44;174	ENSP00000305974:L176P;ENSP00000393973:L176P;ENSP00000394854:L44P;ENSP00000439401:L44P;ENSP00000375088:L174P	ENSP00000305974:L176P	L	-	2	0	SLCO1A2	21348690	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.266000	0.43320	1.995000	0.58328	0.482000	0.46254	CTG	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.353	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	169	0.00	0	A	NM_021094		21457423	21457423	-1	no_errors	ENST00000307378	ensembl	human	known	69_37n	missense	148	18.68	34	SNP	0.979	G
SLCO3A1	28232	genome.wustl.edu	37	15	92706541	92706541	+	3'UTR	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:92706541G>A	ENST00000318445.6	+	0	2523				RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Intron	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GAGCCAGACAGGATTCAGAAT	0.507																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.*176G>A	15.37:g.92706541G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	RNA	SNP	-	NULL	ENST00000318445.6	37	NULL	CCDS10371.1	15																																																																																			SLCO3A1	-	-	ENSG00000176463		0.507	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	52	0.00	0	G	NM_013272		92706541	92706541	+1	no_errors	ENST00000555439	ensembl	human	known	69_37n	rna	26	16.13	5	SNP	1.000	A
SLCO5A1	81796	genome.wustl.edu	37	8	70585379	70585379	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:70585379A>G	ENST00000260126.4	-	10	2978	c.2272T>C	c.(2272-2274)Tac>Cac	p.Y758H	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.Y703H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	758						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y758N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTATGGAGTACCAGGCCAGA	0.498																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											74.0	73.0	73.0					8																	70585379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2272T>C	8.37:g.70585379A>G	ENSP00000260126:p.Tyr758His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.Y758H	ENST00000260126.4	37	c.2272	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016778	0.75161	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.80824	-1.42;-1.42	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	L	0.54323	1.7	0.52501	D	0.999956	D;D	0.69078	0.996;0.997	P;P	0.62089	0.859;0.898	D	0.85967	0.1474	10	0.45353	T	0.12	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	703;758	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	H	758;703	ENSP00000260126:Y758H;ENSP00000431611:Y703H	ENSP00000260126:Y758H	Y	-	1	0	SLCO5A1	70747933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	2.281000	0.76405	0.533000	0.62120	TAC	SLCO5A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.498	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	162	0.00	0	A	NM_030958		70585379	70585379	-1	no_errors	ENST00000260126	ensembl	human	known	69_37n	missense	62	57.82	85	SNP	1.000	G
SLFN11	91607	genome.wustl.edu	37	17	33680924	33680924	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:33680924C>T	ENST00000394566.1	-	6	1625	c.1353G>A	c.(1351-1353)ttG>ttA	p.L451L	SLFN11_ENST00000308377.4_Silent_p.L451L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	451					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTTCTCCTGCAAGTTCAGGT	0.488																																						dbGAP											0													73.0	71.0	71.0					17																	33680924		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1353G>A	17.37:g.33680924C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.L451	ENST00000394566.1	37	c.1353	CCDS11294.1	17																																																																																			SLFN11	-	NULL	ENSG00000172716		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	154	0.00	0	C	NM_152270		33680924	33680924	-1	no_errors	ENST00000308377	ensembl	human	known	69_37n	silent	110	33.73	56	SNP	0.059	T
SLIT2	9353	genome.wustl.edu	37	4	20255442	20255442	+	Missense_Mutation	SNP	C	C	T	rs200224686	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:20255442C>T	ENST00000504154.1	+	1	256	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R2C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R2C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R2C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	2					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGGAAAGATGCGCGGCGTTGG	0.677													C|||	2	0.000399361	0.0	0.0	5008	,	,		14468	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													81.0	67.0	72.0					4																	20255442		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4C>T	4.37:g.20255442C>T	ENSP00000422591:p.Arg2Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R2C	ENST00000504154.1	37	c.4	CCDS3426.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.48	3.401330	0.62288	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;T;D	0.81908	-1.54;-1.55;-1.47;-1.52	3.99	1.13	0.20643	.	0.640592	0.14703	N	0.303455	T	0.65491	0.2696	N	0.19112	0.55	0.28294	N	0.923419	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53641	-0.8410	10	0.40728	T	0.16	.	2.5413	0.04726	0.3914:0.2827:0.0:0.3259	.	2;2	O94813-3;O94813	.;SLIT2_HUMAN	C	2	ENSP00000427548:R2C;ENSP00000422591:R2C;ENSP00000273739:R2C;ENSP00000422261:R2C	ENSP00000273739:R2C	R	+	1	0	SLIT2	19864540	0.571000	0.26659	0.998000	0.56505	0.836000	0.47400	-0.278000	0.08490	0.404000	0.25506	0.313000	0.20887	CGC	SLIT2	-	NULL	ENSG00000145147		0.677	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	10	0.00	0	C			20255442	20255442	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.990	T
SLIT2	9353	genome.wustl.edu	37	4	20618688	20618688	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:20618688C>T	ENST00000504154.1	+	35	4255	c.4003C>T	c.(4003-4005)Cca>Tca	p.P1335S	SLIT2_ENST00000273739.5_Missense_Mutation_p.P1348S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1331S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1327S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1335	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCTGTGAGCCATGCCACAA	0.587																																						dbGAP											0													61.0	59.0	60.0					4																	20618688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4003C>T	4.37:g.20618688C>T	ENSP00000422591:p.Pro1335Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1335S	ENST00000504154.1	37	c.4003	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173670	0.57584	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81247	-1.45;-1.47;-1.42;-1.43	6.06	5.22	0.72569	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	L	0.41415	1.275	0.80722	D	1	B;P	0.35124	0.028;0.485	B;B	0.36666	0.053;0.23	T	0.69289	-0.5184	10	0.12103	T	0.63	.	15.566	0.76294	0.0:0.934:0.0:0.066	.	1327;1335	O94813-3;O94813	.;SLIT2_HUMAN	S	1327;1335;1348;1331;1331	ENSP00000427548:P1327S;ENSP00000422591:P1335S;ENSP00000273739:P1348S;ENSP00000422261:P1331S	ENSP00000273739:P1348S	P	+	1	0	SLIT2	20227786	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	7.803000	0.85983	1.573000	0.49748	0.650000	0.86243	CCA	SLIT2	-	smart_EGF-like	ENSG00000145147		0.587	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	49	0.00	0	C			20618688	20618688	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	1.000	T
SMAD9	4093	genome.wustl.edu	37	13	37453453	37453453	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:37453453C>T	ENST00000399275.2	-	1	513	c.374G>A	c.(373-375)tGc>tAc	p.C125Y	SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000379826.4_Missense_Mutation_p.C125Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.C125Y			O15198	SMAD9_HUMAN	SMAD family member 9	125	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGGTTAATGCACACTTCTTT	0.557																																						dbGAP											0													38.0	41.0	40.0					13																	37453453		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.374G>A	13.37:g.37453453C>T	ENSP00000382216:p.Cys125Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.C125Y	ENST00000399275.2	37	c.374	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699333	0.88830	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.97994	-4.65;-4.65;-4.65	5.47	5.47	0.80525	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99091	1.0840	10	0.87932	D	0	.	18.3033	0.90171	0.0:1.0:0.0:0.0	.	125;125	O15198-2;O15198	.;SMAD9_HUMAN	Y	125	ENSP00000382216:C125Y;ENSP00000239885:C125Y;ENSP00000369154:C125Y	ENSP00000239885:C125Y	C	-	2	0	SMAD9	36351453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.762000	0.85270	2.565000	0.86533	0.514000	0.50259	TGC	SMAD9	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000120693		0.557	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	49	0.00	0	C	NM_005905		37453453	37453453	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	1.000	T
SMAP2	64744	genome.wustl.edu	37	1	40879826	40879826	+	3'UTR	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:40879826C>A	ENST00000487871.1	+	0	178				SMAP2_ENST00000539317.1_Intron			Q8WU79	SMAP2_HUMAN	small ArfGAP2						regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ATATTTTCACCTTAGCCACAG	0.463																																						dbGAP											0													70.0	71.0	70.0					1																	40879826		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000487871.1:c.*175C>A	1.37:g.40879826C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	RNA	SNP	-	NULL	ENST00000487871.1	37	NULL		1																																																																																			SMAP2	-	-	ENSG00000084070		0.463	SMAP2-004	KNOWN	mRNA_end_NF|basic	processed_transcript	SMAP2	HGNC	protein_coding	OTTHUMT00000019077.1	138	0.00	0	C	NM_022733		40879826	40879826	+1	no_errors	ENST00000487871	ensembl	human	known	69_37n	rna	97	28.15	38	SNP	0.028	A
SMC5	23137	genome.wustl.edu	37	9	72933477	72933477	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:72933477G>T	ENST00000361138.5	+	14	1912	c.1854G>T	c.(1852-1854)aaG>aaT	p.K618N		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	618	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CAGAAGAAAAGTATGTGGTGA	0.308																																						dbGAP											0													59.0	70.0	66.0					9																	72933477		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1854G>T	9.37:g.72933477G>T	ENSP00000354957:p.Lys618Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC	p.K618N	ENST00000361138.5	37	c.1854	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411350	0.62399	.	.	ENSG00000198887	ENST00000361138	T	0.18174	2.23	5.8	2.99	0.34606	RecF/RecN/SMC (1);	0.094335	0.64402	D	0.000001	T	0.28200	0.0696	L	0.46157	1.445	0.53688	D	0.999972	D	0.76494	0.999	D	0.70935	0.971	T	0.01460	-1.1349	10	0.24483	T	0.36	-16.1333	9.0253	0.36224	0.3478:0.0:0.6522:0.0	.	618	Q8IY18	SMC5_HUMAN	N	618	ENSP00000354957:K618N	ENSP00000354957:K618N	K	+	3	2	SMC5	72123297	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.256000	0.32921	0.372000	0.24591	-0.145000	0.13849	AAG	SMC5	-	pfam_RecF/RecN/SMC	ENSG00000198887		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	115	0.00	0	G	NM_015110		72933477	72933477	+1	no_errors	ENST00000361138	ensembl	human	known	69_37n	missense	140	10.83	17	SNP	1.000	T
SMC2	10592	genome.wustl.edu	37	9	106896847	106896847	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:106896847G>A	ENST00000286398.7	+	23	3548	c.3260G>A	c.(3259-3261)gGt>gAt	p.G1087D	SMC2_ENST00000374787.3_Missense_Mutation_p.G1087D|SMC2_ENST00000374793.3_Missense_Mutation_p.G1087D|SMC2_ENST00000303219.8_Missense_Mutation_p.G1087D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1087	Ala/Asp-rich (DA-box).				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAACTTAGTGGTGGTCAGAGG	0.383																																						dbGAP											0													100.0	103.0	102.0					9																	106896847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3260G>A	9.37:g.106896847G>A	ENSP00000286398:p.Gly1087Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.G1087D	ENST00000286398.7	37	c.3260	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969816	0.92855	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71391	-0.4607	10	0.87932	D	0	-14.8124	18.908	0.92471	0.0:0.0:1.0:0.0	.	1087	O95347	SMC2_HUMAN	D	1087	ENSP00000286398:G1087D;ENSP00000363925:G1087D;ENSP00000306152:G1087D;ENSP00000363919:G1087D	ENSP00000286398:G1087D	G	+	2	0	SMC2	105936668	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	GGT	SMC2	-	pfam_RecF/RecN/SMC	ENSG00000136824		0.383	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	111	0.00	0	G			106896847	106896847	+1	no_errors	ENST00000286398	ensembl	human	known	69_37n	missense	96	12.73	14	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57289068	57289068	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:57289068T>C	ENST00000543872.2	+	2	1920	c.1656T>C	c.(1654-1656)caT>caC	p.H552H	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.H552H|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.H552H			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	552					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGCAGTTACATGAGGACTGCT	0.438																																						dbGAP											0													99.0	90.0	93.0					17																	57289068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1656T>C	17.37:g.57289068T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.H552	ENST00000543872.2	37	c.1656	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.438	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	70	0.00	0	T	NM_018149		57289068	57289068	+1	no_errors	ENST00000300917	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	0.948	C
SMPDL3A	10924	genome.wustl.edu	37	6	123124876	123124876	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:123124876G>A	ENST00000368440.4	+	5	813	c.636G>A	c.(634-636)ttG>ttA	p.L212L	SMPDL3A_ENST00000539041.1_Silent_p.L81L	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	212					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		ACACAAACTTGTACTACGGCC	0.353																																						dbGAP											0													145.0	141.0	143.0					6																	123124876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.636G>A	6.37:g.123124876G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z729|Q8WV13	Silent	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.L212	ENST00000368440.4	37	c.636	CCDS5128.1	6																																																																																			SMPDL3A	-	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.353	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	204	0.00	0	G	NM_006714		123124876	123124876	+1	no_errors	ENST00000368440	ensembl	human	known	69_37n	silent	208	20.61	54	SNP	0.994	A
SMYD4	114826	genome.wustl.edu	37	17	1687721	1687721	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:1687721delC	ENST00000305513.7	-	8	2086	c.1919delG	c.(1918-1920)tgtfs	p.C640fs		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	640							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGATTCTGCACAAGATCTGCT	0.537											OREG0024075	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													145.0	134.0	138.0					17																	1687721		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1919delG	17.37:g.1687721delC	ENSP00000304360:p.Cys640fs	Somatic	597	WXS	Illumina GAIIx	Phase_IV	Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.C640fs	ENST00000305513.7	37	c.1919	CCDS11013.1	17																																																																																			SMYD4	-	NULL	ENSG00000186532		0.537	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	93	0.00	0	C	XM_056082		1687721	1687721	-1	no_errors	ENST00000305513	ensembl	human	known	69_37n	frame_shift_del	104	18.32	24	DEL	0.840	-
SNCAIP	9627	genome.wustl.edu	37	5	121776431	121776431	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:121776431C>T	ENST00000261368.8	+	7	1666	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G	SNCAIP_ENST00000379533.2_Silent_p.G515G|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.G70G|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.G102G|SNCAIP_ENST00000503116.2_Silent_p.G515G|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.G408G|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.G515G|SNCAIP_ENST00000542191.1_Silent_p.G26G	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	468					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACAGCATGGCTACCTTGGAT	0.423																																						dbGAP											0													127.0	119.0	122.0					5																	121776431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1404C>T	5.37:g.121776431C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G515	ENST00000261368.8	37	c.1545	CCDS4131.1	5																																																																																			SNCAIP	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064692		0.423	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	130	0.00	0	C			121776431	121776431	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	silent	88	12.00	12	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	241989376	241989376	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:241989376C>T	ENST00000310397.8	+	12	1735				SNED1_ENST00000469006.1_Intron|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Intron|SNED1_ENST00000401884.1_Intron|SNED1_ENST00000405547.3_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCGTCCGGGCCGGCGTCAGCA	0.662																																						dbGAP											0													21.0	24.0	23.0					2																	241989376		2028	4147	6175	-	-	-	SO:0001627	intron_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1735+26C>T	2.37:g.241989376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P245L	ENST00000310397.8	37	c.734	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	3.558	-0.090320	0.07053	.	.	ENSG00000162804	ENST00000431690	.	.	.	1.29	-0.987	0.10249	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.29912	-0.9996	4	.	.	.	.	6.8481	0.24000	0.0:0.4267:0.5733:0.0	.	.	.	.	L	245	.	.	P	+	2	0	SNED1	241638049	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.623000	0.00876	-0.326000	0.08564	-0.440000	0.05779	CCG	SNED1	-	NULL	ENSG00000162804		0.662	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	18	0.00	0	C	XM_059482		241989376	241989376	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000431690	ensembl	human	novel	69_37n	missense	8	52.94	9	SNP	0.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25310193	25310193	+	RNA	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:25310193delA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-5_ENST00000384462.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAGTCCTCCAAAAAAAACAT	0.473																																						dbGAP											0										166,2296		70,26,1135	169.0	153.0	158.0			0.2	0.0	15		156	381,4487		179,23,2232	no	intergenic				249,49,3367	A1A1,A1R,RR		7.8266,6.7425,7.4625			25310193	547,6783	876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310193delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-6	-	-	ENSG00000207442		0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-6	HGNC	processed_transcript	OTTHUMT00000408278.2	214	0.00	0	A			25310193	25310193	+1	no_errors	ENST00000384711	ensembl	human	known	69_37n	rna	105	21.83	31	DEL	0.001	-
SNRPB	6628	genome.wustl.edu	37	20	2443662	2443662	+	Intron	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:2443662G>T	ENST00000438552.2	-	5	722				SNRPB_ENST00000339610.6_Intron|SNRPB_ENST00000381342.2_Intron|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1						gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTCAGTCAAGGTTATATCTC	0.483																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.559+72C>A	20.37:g.2443662G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15490|Q6IB35|Q9UIS5	RNA	SNP	-	NULL	ENST00000438552.2	37	NULL	CCDS13026.1	20																																																																																			SNORD119	-	-	ENSG00000251806		0.483	SNRPB-002	KNOWN	basic|CCDS	protein_coding	SNORD119	HGNC	protein_coding	OTTHUMT00000077585.2	177	0.56	1	G			2443662	2443662	-1	no_errors	ENST00000515997	ensembl	human	known	69_37n	rna	186	17.33	39	SNP	0.332	T
SNRNP40	9410	genome.wustl.edu	37	1	31732678	31732678	+	3'UTR	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:31732678delA	ENST00000263694.4	-	0	1333				SNRNP40_ENST00000373720.3_3'UTR|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						aaagaaaaagaaaaaaaaaaa	0.373																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.*241T>-	1.37:g.31732678delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQJ1|O75938|O95320	RNA	DEL	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.373	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	12	0.00	0	A	NM_004814		31732678	31732678	-1	no_errors	ENST00000486941	ensembl	human	known	69_37n	rna	12	29.41	5	DEL	0.040	-
SNTG1	54212	genome.wustl.edu	37	8	51705323	51705323	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:51705323C>T	ENST00000522124.1	+	19	2149	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	SNTG1_ENST00000517473.1_Silent_p.G459G|SNTG1_ENST00000518864.1_Silent_p.G496G|SNTG1_ENST00000276467.5_Silent_p.G459G	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	496					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TATTTTTAGGCAATCAAGCTA	0.423																																						dbGAP											0													181.0	168.0	172.0					8																	51705323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1488C>T	8.37:g.51705323C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3Q0|Q9NY98	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.G496	ENST00000522124.1	37	c.1488	CCDS6147.1	8																																																																																			SNTG1	-	NULL	ENSG00000147481		0.423	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	200	0.50	1	C			51705323	51705323	+1	no_errors	ENST00000518864	ensembl	human	known	69_37n	silent	175	17.06	36	SNP	0.991	T
SNX25	83891	genome.wustl.edu	37	4	186283088	186283088	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:186283088G>A	ENST00000504273.1	+	17	2464	c.2170G>A	c.(2170-2172)Gac>Aac	p.D724N	SNX25_ENST00000264694.8_Missense_Mutation_p.D724N|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	724					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		ACAAATCCGGGACACAGTCAG	0.383																																						dbGAP											0													79.0	83.0	82.0					4																	186283088		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2170G>A	4.37:g.186283088G>A	ENSP00000426255:p.Asp724Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D724N	ENST00000504273.1	37	c.2170	CCDS34116.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.223276	0.95139	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.32988	1.43;1.43	5.15	5.15	0.70609	Sorting nexin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.81112	2.525	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.998;0.934;0.999	T	0.58864	-0.7561	10	0.37606	T	0.19	-21.7198	18.9876	0.92779	0.0:0.0:1.0:0.0	.	440;257;724	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	N	724;724;257	ENSP00000426255:D724N;ENSP00000264694:D724N	ENSP00000264693:D257N	D	+	1	0	SNX25	186520082	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.411000	0.97342	2.566000	0.86566	0.542000	0.68232	GAC	SNX25	-	pfam_Sorting_nexin_C	ENSG00000109762		0.383	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	87	0.00	0	G	NM_031953		186283088	186283088	+1	no_errors	ENST00000264694	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	1.000	A
SNX3	8724	genome.wustl.edu	37	6	108544180	108544180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:108544180G>A	ENST00000230085.8	-	2	570	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SNX3_ENST00000349379.5_Nonsense_Mutation_p.R56*|SNX3_ENST00000368982.4_Nonsense_Mutation_p.R78*|SNX3_ENST00000426155.2_Intron	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	78	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		AATTCACTTCGCAGCCATTCA	0.308																																						dbGAP											0													90.0	81.0	84.0					6																	108544180		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"""Sorting nexins"""	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.232C>T	6.37:g.108544180G>A	ENSP00000230085:p.Arg78*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Nonsense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R78*	ENST00000230085.8	37	c.232	CCDS5064.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.875818	0.97055	.	.	ENSG00000112335	ENST00000230085;ENST00000349379;ENST00000368982	.	.	.	6.08	4.17	0.49024	.	0.049682	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.7053	15.2585	0.73603	0.0:0.0:0.4157:0.5843	.	.	.	.	X	78;56;78	.	ENSP00000230085:R78X	R	-	1	2	SNX3	108650873	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	2.131000	0.42074	0.715000	0.32103	-0.274000	0.10170	CGA	SNX3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000112335		0.308	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX3	HGNC	protein_coding	OTTHUMT00000041717.1	58	0.00	0	G			108544180	108544180	-1	no_errors	ENST00000230085	ensembl	human	known	69_37n	nonsense	54	19.40	13	SNP	0.531	A
SON	6651	genome.wustl.edu	37	21	34922033	34922033	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:34922033G>A	ENST00000356577.4	+	3	971	c.496G>A	c.(496-498)Gcg>Acg	p.A166T	SON_ENST00000381679.4_Missense_Mutation_p.A166T|SON_ENST00000300278.4_Missense_Mutation_p.A166T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.A166T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	166					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCAGCTGTGGCGCTGGAGCT	0.443																																						dbGAP											0													73.0	76.0	75.0					21																	34922033		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.496G>A	21.37:g.34922033G>A	ENSP00000348984:p.Ala166Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.A166T	ENST00000356577.4	37	c.496	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609106	0.46527	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.29397	2.54;1.57;2.53;1.57	5.77	3.96	0.45880	.	0.231960	0.30809	N	0.008834	T	0.34803	0.0910	N	0.24115	0.695	0.24846	N	0.992437	D;D;D	0.76494	0.997;0.999;0.996	P;D;P	0.64410	0.843;0.925;0.893	T	0.08330	-1.0727	10	0.72032	D	0.01	.	7.6918	0.28571	0.0826:0.0:0.7555:0.1619	.	166;166;166	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	T	166	ENSP00000348984:A166T;ENSP00000290239:A166T;ENSP00000300278:A166T;ENSP00000371095:A166T	ENSP00000290239:A166T	A	+	1	0	SON	33843903	1.000000	0.71417	0.934000	0.37439	0.159000	0.22180	4.431000	0.59915	0.891000	0.36235	-0.181000	0.13052	GCG	SON	-	NULL	ENSG00000159140		0.443	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	92	0.00	0	G	NM_138927		34922033	34922033	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.969	A
SON	6651	genome.wustl.edu	37	21	34931975	34931975	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:34931975G>A	ENST00000356577.4	+	6	7026	c.6551G>A	c.(6550-6552)cGg>cAg	p.R2184Q	SON_ENST00000300278.4_Missense_Mutation_p.R2184Q|SON_ENST00000381692.2_Missense_Mutation_p.R212Q|SON_ENST00000290239.6_Missense_Mutation_p.R2184Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2184					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTCAACATCGGAAAAAAGAA	0.373																																						dbGAP											0													91.0	94.0	93.0					21																	34931975		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6551G>A	21.37:g.34931975G>A	ENSP00000348984:p.Arg2184Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.R2184Q	ENST00000356577.4	37	c.6551	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.23|17.23	3.335743|3.335743	0.60853|0.60853	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	.|T;T;T	.|0.18502	.|2.33;2.35;2.21	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.45361	.|D	.|0.000375	T|T	0.44787|0.44787	0.1310|0.1310	M|M	0.75615|0.75615	2.305|2.305	0.45194|0.45194	D|D	0.998202|0.998202	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;P;D;D;D	.|0.85130	.|0.997;0.837;0.994;0.997;0.997	T|T	0.17992|0.17992	-1.0351|-1.0351	5|10	.|0.40728	.|T	.|0.16	.|.	19.5384|19.5384	0.95264|0.95264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2184;212;2184;1865;2184	.|P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.|.;.;SON_HUMAN;.;.	R|Q	1179|2184;2184;212;2184;245	.|ENSP00000348984:R2184Q;ENSP00000290239:R2184Q;ENSP00000300278:R2184Q	.|ENSP00000290239:R2184Q	G|R	+|+	1|2	0|0	SON|SON	33853845|33853845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.756000|5.756000	0.68757|0.68757	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GGA|CGG	SON	-	NULL	ENSG00000159140		0.373	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	134	0.00	0	G	NM_138927		34931975	34931975	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	missense	83	18.63	19	SNP	1.000	A
SORCS1	114815	genome.wustl.edu	37	10	108536424	108536424	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:108536424A>G	ENST00000263054.6	-	4	760	c.753T>C	c.(751-753)atT>atC	p.I251I	SORCS1_ENST00000344440.6_Silent_p.I251I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	251					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.I251I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACTGCTCTCAATCTCCGGGT	0.373																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											105.0	100.0	102.0					10																	108536424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.753T>C	10.37:g.108536424A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.I251	ENST00000263054.6	37	c.753	CCDS7559.1	10																																																																																			SORCS1	-	smart_VPS10	ENSG00000108018		0.373	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	118	0.00	0	A	NM_052918		108536424	108536424	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	silent	108	24.48	35	SNP	1.000	G
SOX6	55553	genome.wustl.edu	37	11	16068212	16068213	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:16068212_16068213insA	ENST00000352083.6	-	12	1547_1548	c.1470_1471insT	c.(1468-1473)tttgggfs	p.G491fs	SOX6_ENST00000527619.1_Frame_Shift_Ins_p.G467fs|SOX6_ENST00000528252.1_Frame_Shift_Ins_p.G464fs|SOX6_ENST00000528429.1_Frame_Shift_Ins_p.G491fs|SOX6_ENST00000396356.3_Frame_Shift_Ins_p.G491fs|SOX6_ENST00000316399.6_Frame_Shift_Ins_p.G491fs			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	491					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCCTGATCCCCAAAAAGGGCAG	0.49																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1471dupT	11.37:g.16068217_16068217dupA	ENSP00000339876:p.Gly491fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G490fs	ENST00000352083.6	37	c.1471_1470		11																																																																																			SOX6	-	NULL	ENSG00000110693		0.490	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	103	0.00	0	-	NM_033326		16068212	16068213	-1	no_errors	ENST00000352083	ensembl	human	known	69_37n	frame_shift_ins	96	14.29	16	INS	1.000:1.000	A
SOX7	83595	genome.wustl.edu	37	8	10583475	10583475	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:10583475C>T	ENST00000304501.1	-	2	1018	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	SOX7_ENST00000554914.1_Missense_Mutation_p.A366T|SOX7_ENST00000553390.1_Missense_Mutation_p.A366T	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	314	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGATCCAGGGCGTCGAAGCCA	0.612																																						dbGAP											0													59.0	57.0	58.0					8																	10583475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.940G>A	8.37:g.10583475C>T	ENSP00000301921:p.Ala314Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKV0|Q53YD0	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.A366T	ENST00000304501.1	37	c.1096	CCDS5977.1	8	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.120440	0.01785	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.75589	-0.95;-0.95;-0.95	4.52	1.71	0.24356	.	0.437559	0.24735	N	0.036029	T	0.39809	0.1092	N	0.02539	-0.55	0.24276	N	0.995222	B;B	0.24651	0.108;0.003	B;B	0.16289	0.015;0.006	T	0.36089	-0.9762	10	0.06494	T	0.89	.	7.4495	0.27229	0.0:0.5935:0.0:0.4065	.	366;314	B4DKV0;Q9BT81	.;SOX7_HUMAN	T	314;366;366	ENSP00000301921:A314T;ENSP00000452017:A366T;ENSP00000451145:A366T	ENSP00000346908:A366T	A	-	1	0	SOX7;CTD-2135J3.4	10620885	0.985000	0.35326	0.080000	0.20451	0.059000	0.15707	1.649000	0.37281	0.149000	0.19098	-0.379000	0.06801	GCC	SOX7	-	pfam_Sox_C_TAD	ENSG00000171056		0.612	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	40	0.00	0	C			10583475	10583475	-1	no_errors	ENST00000553390	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.579	T
SPAG1	6674	genome.wustl.edu	37	8	101237470	101237470	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:101237470G>A	ENST00000388798.2	+	14	1949	c.1758G>A	c.(1756-1758)gtG>gtA	p.V586V	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Silent_p.V586V	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	586					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTCCTGCTGTGCCTGCTTCTG	0.493																																						dbGAP											0													66.0	61.0	62.0					8																	101237470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1758G>A	8.37:g.101237470G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V586	ENST00000388798.2	37	c.1758	CCDS34930.1	8																																																																																			SPAG1	-	NULL	ENSG00000104450		0.493	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	53	0.00	0	G	NM_172218		101237470	101237470	+1	no_errors	ENST00000251809	ensembl	human	known	69_37n	silent	29	62.34	48	SNP	1.000	A
NPR2	4882	genome.wustl.edu	37	9	35810295	35810295	+	IGR	SNP	G	G	T	rs200361561		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:35810295G>T	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.Y404*|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Intron|SPAG8_ENST00000396638.2_Nonsense_Mutation_p.Y404*	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCTCCTGGCGGTAGTCGTGAG	0.607																																						dbGAP											0													163.0	160.0	161.0					9																	35810295		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810295G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	prints_Antifreeze_1	p.Y404*	ENST00000342694.2	37	c.1212	CCDS6590.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.556023|3.556023	0.65425|0.65425	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000396638	.|.	.|.	.|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	.|0.000000	.|0.51477	.|D	.|0.000099	T|.	0.32376|.	0.0827|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15206|.	-1.0445|.	4|.	.|0.02654	.|T	.|1	-14.758|-14.758	11.2087|11.2087	0.48784|0.48784	0.085:0.0:0.915:0.0|0.085:0.0:0.915:0.0	.|.	.|.	.|.	.|.	N|X	402|404	.|.	.|ENSP00000340982:Y404X	T|Y	-|-	2|3	0|2	SPAG8|SPAG8	35800295|35800295	1.000000|1.000000	0.71417|0.71417	0.865000|0.865000	0.33974|0.33974	0.788000|0.788000	0.44548|0.44548	2.965000|2.965000	0.49200|0.49200	1.295000|1.295000	0.44724|0.44724	0.655000|0.655000	0.94253|0.94253	ACC|TAC	SPAG8	-	NULL	ENSG00000137098		0.607	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	200	0.50	1	G			35810295	35810295	-1	no_errors	ENST00000340291	ensembl	human	known	69_37n	nonsense	76	12.64	11	SNP	0.959	T
SPARCL1	8404	genome.wustl.edu	37	4	88411522	88411522	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:88411522G>T	ENST00000282470.6	-	7	1904	c.1434C>A	c.(1432-1434)acC>acA	p.T478T	SPARCL1_ENST00000503414.1_Silent_p.T353T|SPARCL1_ENST00000418378.1_Silent_p.T478T	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	478	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.T478T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AACTAGCATAGGTCTGATTGT	0.438																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											245.0	257.0	253.0					4																	88411522		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1434C>A	4.37:g.88411522G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z0|E7ESU2|Q14800	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.T478	ENST00000282470.6	37	c.1434	CCDS3622.1	4																																																																																			SPARCL1	-	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1	ENSG00000152583		0.438	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	458	0.00	0	G			88411522	88411522	-1	no_errors	ENST00000282470	ensembl	human	known	69_37n	silent	382	16.78	77	SNP	1.000	T
SPCS3	60559	genome.wustl.edu	37	4	177248342	177248342	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:177248342G>T	ENST00000503362.1	+	4	437	c.324G>T	c.(322-324)aaG>aaT	p.K108N	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TATGGGACAAGATTGTTTTGA	0.318																																						dbGAP											0													45.0	43.0	44.0					4																	177248342		1811	4064	5875	-	-	-	SO:0001583	missense	0			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.324G>T	4.37:g.177248342G>T	ENSP00000427463:p.Lys108Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P12280|Q9H0S7	Missense_Mutation	SNP	pfam_SPC22,pirsf_SPC22	p.K108N	ENST00000503362.1	37	c.324	CCDS54823.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043656	0.75732	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.56	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.75064	0.3799	M	0.79011	2.435	0.80722	D	1	P	0.50710	0.938	D	0.64877	0.93	T	0.73401	-0.3994	9	0.54805	T	0.06	-5.598	9.7855	0.40673	0.2795:0.0:0.7205:0.0	.	108	P61009	SPCS3_HUMAN	N	108	.	ENSP00000427463:K108N	K	+	3	2	SPCS3	177485336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.649000	0.46656	0.301000	0.22738	0.655000	0.94253	AAG	SPCS3	-	pfam_SPC22,pirsf_SPC22	ENSG00000129128		0.318	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPCS3	HGNC	protein_coding	OTTHUMT00000362329.1	11	0.00	0	G	NM_021928		177248342	177248342	+1	no_errors	ENST00000503362	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R806fs	ENST00000375759.3	37	c.2407_2408	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	332	0.30	1	GA	NM_015001		16255142	16255143	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	233	19.52	57	DEL	0.999:1.000	-
SPEN	23013	genome.wustl.edu	37	1	16258664	16258664	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:16258664C>T	ENST00000375759.3	+	11	6133	c.5929C>T	c.(5929-5931)Cca>Tca	p.P1977S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1977					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AACACTCAAGCCACCTGAGGG	0.592																																						dbGAP											0													30.0	32.0	31.0					1																	16258664		2198	4296	6494	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5929C>T	1.37:g.16258664C>T	ENSP00000364912:p.Pro1977Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P1977S	ENST00000375759.3	37	c.5929	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155137	0.21371	.	.	ENSG00000065526	ENST00000375759	T	0.08008	3.14	4.73	1.48	0.22813	.	.	.	.	.	T	0.16642	0.0400	L	0.45137	1.4	0.09310	N	1	D	0.63880	0.993	D	0.72982	0.979	T	0.19877	-1.0292	9	0.21540	T	0.41	-9.9697	9.2837	0.37744	0.0:0.6485:0.2747:0.0768	.	1977	Q96T58	MINT_HUMAN	S	1977	ENSP00000364912:P1977S	ENSP00000364912:P1977S	P	+	1	0	SPEN	16131251	0.891000	0.30450	0.265000	0.24526	0.662000	0.39071	0.717000	0.25851	0.496000	0.27904	0.462000	0.41574	CCA	SPEN	-	NULL	ENSG00000065526		0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	113	0.00	0	C	NM_015001		16258664	16258664	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	69	23.91	22	SNP	0.007	T
SPEN	23013	genome.wustl.edu	37	1	16260194	16260194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:16260194delG	ENST00000375759.3	+	11	7663	c.7459delG	c.(7459-7461)gggfs	p.G2488fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2488	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTCGCCTCTGGGGGGATCCC	0.597																																						dbGAP											0													86.0	77.0	80.0					1																	16260194		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7459delG	1.37:g.16260194delG	ENSP00000364912:p.Gly2488fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.I2489fs	ENST00000375759.3	37	c.7459	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	342	0.00	0	G	NM_015001		16260194	16260194	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	195	22.48	58	DEL	0.464	-
SPEN	23013	genome.wustl.edu	37	1	16260214	16260214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:16260214delC	ENST00000375759.3	+	11	7683	c.7479delC	c.(7477-7479)agcfs	p.S2493fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2493	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACACCAGAGCCCCCCTACTA	0.597																																						dbGAP											0													81.0	77.0	78.0					1																	16260214		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7479delC	1.37:g.16260214delC	ENSP00000364912:p.Ser2493fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2495fs	ENST00000375759.3	37	c.7479	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	372	0.00	0	C	NM_015001		16260214	16260214	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	159	44.26	131	DEL	0.001	-
SPG21	51324	genome.wustl.edu	37	15	65268875	65268875	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:65268875A>G	ENST00000204566.2	-	4	539	c.244T>C	c.(244-246)Tgg>Cgg	p.W82R	SPG21_ENST00000416889.2_Intron|SPG21_ENST00000433215.2_Missense_Mutation_p.W82R|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000560564.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	82					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGGTCCCAATAAACTGGA	0.289																																						dbGAP											0													48.0	49.0	49.0					15																	65268875		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.244T>C	15.37:g.65268875A>G	ENSP00000204566:p.Trp82Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW44|Q6ZMB6	Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.W82R	ENST00000204566.2	37	c.244	CCDS10198.1	15	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630888	0.87660	.	.	ENSG00000090487	ENST00000204566;ENST00000433215	T;T	0.66280	-0.2;-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.64404	1.975	0.80722	D	1	D	0.57257	0.979	P	0.61533	0.89	T	0.70288	-0.4913	10	0.26408	T	0.33	-11.9065	15.6462	0.77055	1.0:0.0:0.0:0.0	.	82	Q9NZD8	SPG21_HUMAN	R	82	ENSP00000204566:W82R;ENSP00000404111:W82R	ENSP00000204566:W82R	W	-	1	0	SPG21	63055928	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.881000	0.92415	2.371000	0.80710	0.533000	0.62120	TGG	SPG21	-	NULL	ENSG00000090487		0.289	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG21	HGNC	protein_coding	OTTHUMT00000256758.3	74	0.00	0	A	NM_016630		65268875	65268875	-1	no_errors	ENST00000204566	ensembl	human	known	69_37n	missense	30	50.82	31	SNP	1.000	G
SPG7	6687	genome.wustl.edu	37	16	89623346	89623346	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:89623346G>A	ENST00000268704.2	+	17	2248	c.2233G>A	c.(2233-2235)Gct>Act	p.A745T	SPG7_ENST00000565891.1_3'UTR	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	745					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGACATTGAGGCTCTCATTGG	0.567																																						dbGAP											0													101.0	100.0	100.0					16																	89623346		2198	4300	6498	-	-	-	SO:0001583	missense	0			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.2233G>A	16.37:g.89623346G>A	ENSP00000268704:p.Ala745Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.A745T	ENST00000268704.2	37	c.2233	CCDS10977.1	16	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533572	0.64972	.	.	ENSG00000197912	ENST00000268704	D	0.85702	-2.02	5.59	4.64	0.57946	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.227180	0.45606	D	0.000360	T	0.80059	0.4554	L	0.28054	0.825	0.80722	D	1	P	0.37688	0.605	P	0.45712	0.491	T	0.77635	-0.2514	10	0.37606	T	0.19	.	9.5771	0.39465	0.0741:0.1431:0.7827:0.0	.	745	Q9UQ90	SPG7_HUMAN	T	745	ENSP00000268704:A745T	ENSP00000268704:A745T	A	+	1	0	SPG7	88150847	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	5.537000	0.67186	2.622000	0.88805	0.563000	0.77884	GCT	SPG7	-	pfam_Peptidase_M41,tigrfam_FtsH	ENSG00000197912		0.567	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	24	0.00	0	G	NM_003119		89623346	89623346	+1	no_errors	ENST00000268704	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	1.000	A
SPICE1	152185	genome.wustl.edu	37	3	113187049	113187049	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:113187049A>G	ENST00000295872.4	-	10	1351	c.1092T>C	c.(1090-1092)ggT>ggC	p.G364G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	364					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGCCTGTAAGACCCTGACTGC	0.493																																						dbGAP											0													174.0	165.0	168.0					3																	113187049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1092T>C	3.37:g.113187049A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Silent	SNP	NULL	p.G364	ENST00000295872.4	37	c.1092	CCDS2973.1	3																																																																																			SPICE1	-	NULL	ENSG00000163611		0.493	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	118	0.00	0	A	NM_144718		113187049	113187049	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	silent	135	19.64	33	SNP	0.384	G
SPIN2B	474343	genome.wustl.edu	37	X	57146946	57146946	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:57146946G>A	ENST00000333933.3	-	2	427	c.117C>T	c.(115-117)ggC>ggT	p.G39G	SPIN2B_ENST00000275988.5_Silent_p.G39G|SPIN2B_ENST00000374910.3_Silent_p.G39G|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374912.5_Silent_p.G39G|SPIN2B_ENST00000460948.1_5'UTR	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	39					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						ATGAAGGTCGGCCTCTCTGCT	0.552																																						dbGAP											0													2.0	2.0	2.0					X																	57146946		881	1879	2760	-	-	-	SO:0001819	synonymous_variant	0			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.117C>T	X.37:g.57146946G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2M0	Silent	SNP	pfam_Spin_Ssty	p.G39	ENST00000333933.3	37	c.117	CCDS35311.1	X																																																																																			SPIN2B	-	NULL	ENSG00000186787		0.552	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2B	HGNC	protein_coding	OTTHUMT00000056912.1	127	0.00	0	G	NM_001006681		57146946	57146946	-1	no_errors	ENST00000275988	ensembl	human	known	69_37n	silent	71	21.98	20	SNP	0.523	A
SPOCK2	9806	genome.wustl.edu	37	10	73822556	73822556	+	Missense_Mutation	SNP	C	C	T	rs201093728		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:73822556C>T	ENST00000373109.2	-	11	1681	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	SPOCK2_ENST00000317376.4_Missense_Mutation_p.E413K|SPOCK2_ENST00000460053.1_5'Flank|SPOCK2_ENST00000536168.1_Missense_Mutation_p.E413K	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	413	Glu-rich.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCGCCTGCCTCGCcctcctcc	0.677																																						dbGAP											0													58.0	47.0	51.0					10																	73822556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.1237G>A	10.37:g.73822556C>T	ENSP00000362201:p.Glu413Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J767|Q6UW87	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.E413K	ENST00000373109.2	37	c.1237	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623359	0.87460	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T;T	0.55760	0.56;0.5;0.5	5.31	5.31	0.75309	.	0.000000	0.45126	U	0.000394	T	0.55673	0.1935	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.67043	-0.5770	10	0.87932	D	0	.	18.5773	0.91159	0.0:1.0:0.0:0.0	.	413	Q92563	TICN2_HUMAN	K	410;413;413	ENSP00000362201:E410K;ENSP00000321108:E413K;ENSP00000439445:E413K	ENSP00000321108:E413K	E	-	1	0	SPOCK2	73492562	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.238000	0.78173	2.485000	0.83878	0.561000	0.74099	GAG	SPOCK2	-	NULL	ENSG00000107742		0.677	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	61	0.00	0	C			73822556	73822556	-1	no_errors	ENST00000317376	ensembl	human	known	69_37n	missense	30	41.18	21	SNP	1.000	T
SPRY1	10252	genome.wustl.edu	37	4	124323339	124323339	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:124323339T>C	ENST00000394339.2	+	2	933	c.593T>C	c.(592-594)cTa>cCa	p.L198P	SPRY1_ENST00000339241.1_Missense_Mutation_p.L198P	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	198	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CCCAGGACCCTACCATCCTGT	0.512																																						dbGAP											0													184.0	153.0	164.0					4																	124323339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.593T>C	4.37:g.124323339T>C	ENSP00000377871:p.Leu198Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.L198P	ENST00000394339.2	37	c.593	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735431	0.69189	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.69435	-0.4;-0.17;-0.4	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000010	T	0.81866	0.4913	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83578	0.0116	9	.	.	.	-11.2191	14.6626	0.68882	0.0:0.0:0.0:1.0	.	198	O43609	SPY1_HUMAN	P	198	ENSP00000343785:L198P;ENSP00000421036:L198P;ENSP00000377871:L198P	.	L	+	2	0	SPRY1	124542789	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.204000	0.77872	2.120000	0.65058	0.459000	0.35465	CTA	SPRY1	-	pfam_Sprouty	ENSG00000164056		0.512	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	147	0.00	0	T			124323339	124323339	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	1.000	C
SRGAP2B	647135	genome.wustl.edu	37	1	206516354	206516355	+	IGR	DEL	TT	TT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:206516354_206516355delTT								CTSE (184250 upstream) : SRGAP2-AS1 (35863 downstream)																							AGGAAGACTCTTTAAAAAGGTA	0.411																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.206516354_206516355delTT		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.*53fs		37	c.155_156		1																																																																																			SRGAP2	-	NULL	ENSG00000163486	0	0.411					SRGAP2	HGNC			179	0.00	0	TT			206516354	206516355	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000295713	ensembl	human	known	69_37n	frame_shift_del	118	28.48	47	DEL	1.000:1.000	-
SRGAP3	9901	genome.wustl.edu	37	3	9055516	9055516	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:9055516G>A	ENST00000383836.3	-	16	2251	c.1824C>T	c.(1822-1824)aaC>aaT	p.N608N	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Silent_p.N584N|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	608	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTCGGCTGGGTTCTCCAGTT	0.517			T	RAF1	pilocytic astrocytoma																																	dbGAP		Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													114.0	109.0	111.0					3																	9055516		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1824C>T	3.37:g.9055516G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IX13|Q8IZV8	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.N608	ENST00000383836.3	37	c.1824	CCDS2572.1	3																																																																																			SRGAP3	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000196220		0.517	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	153	0.00	0	G			9055516	9055516	-1	no_errors	ENST00000383836	ensembl	human	known	69_37n	silent	121	10.37	14	SNP	0.985	A
SRPK2	6733	genome.wustl.edu	37	7	104809657	104809657	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:104809657A>G	ENST00000393651.3	-	4	372	c.285T>C	c.(283-285)atT>atC	p.I95I	SRPK2_ENST00000489828.1_Silent_p.I84I|SRPK2_ENST00000357311.3_Silent_p.I84I	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAAGCTTTCTAATAACATGAT	0.378																																						dbGAP											0													123.0	113.0	117.0					7																	104809657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.285T>C	7.37:g.104809657A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I95	ENST00000393651.3	37	c.285	CCDS34724.1	7																																																																																			SRPK2	-	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	ENSG00000135250		0.378	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	98	0.00	0	A	NM_182691		104809657	104809657	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	silent	86	18.87	20	SNP	0.985	G
SRPRB	58477	genome.wustl.edu	37	3	133526669	133526669	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:133526669T>C	ENST00000466490.2	+	4	612		c.e4+2			NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AATAACAGGGTAAGATGTTTG	0.398																																						dbGAP											0													151.0	146.0	148.0					3																	133526669		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.327+2T>C	3.37:g.133526669T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P595|Q8N2D8	Splice_Site	SNP	-	e3+2	ENST00000466490.2	37	c.327+2	CCDS3081.1	3	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219961	0.79464	.	.	ENSG00000144867	ENST00000466490	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7133	0.69249	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRPRB	135009359	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.111000	0.71541	2.153000	0.67306	0.528000	0.53228	.	SRPRB	-	-	ENSG00000144867		0.398	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPRB	HGNC	protein_coding	OTTHUMT00000357170.2	78	0.00	0	T		Intron	133526669	133526669	+1	no_errors	ENST00000466490	ensembl	human	known	69_37n	splice_site	79	16.84	16	SNP	1.000	C
SRPX	8406	genome.wustl.edu	37	X	38024061	38024061	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:38024061G>A	ENST00000378533.3	-	5	720	c.614C>T	c.(613-615)aCa>aTa	p.T205I	SRPX_ENST00000343800.6_Missense_Mutation_p.T192I|SRPX_ENST00000538295.1_Missense_Mutation_p.T205I|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.T185I|SRPX_ENST00000432886.2_Missense_Mutation_p.T146I	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	205	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCCTTCGGGTGTCTCCCAGGA	0.438																																						dbGAP											0													129.0	108.0	115.0					X																	38024061		2202	4300	6502	-	-	-	SO:0001583	missense	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.614C>T	X.37:g.38024061G>A	ENSP00000367794:p.Thr205Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.T205I	ENST00000378533.3	37	c.614	CCDS14245.1	X	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799571	0.70567	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.79	4.92	0.64577	Hyalin (2);	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;P	0.89917	0.997;0.965;1.0;0.83	D;P;D;P	0.83275	0.947;0.891;0.996;0.792	T	0.09640	-1.0665	10	0.29301	T	0.29	-23.1892	16.1502	0.81611	0.0:0.1296:0.8704:0.0	.	205;146;185;205	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	I	185;146;205;205;192	ENSP00000440758:T185I;ENSP00000411165:T146I;ENSP00000445034:T205I;ENSP00000367794:T205I;ENSP00000339211:T192I	ENSP00000339211:T192I	T	-	2	0	SRPX	37909005	1.000000	0.71417	0.928000	0.36995	0.693000	0.40251	7.628000	0.83189	1.176000	0.42840	0.506000	0.49869	ACA	SRPX	-	pfam_Hyalin,pfscan_Hyalin	ENSG00000101955		0.438	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	72	0.00	0	G	NM_006307		38024061	38024061	-1	no_errors	ENST00000378533	ensembl	human	known	69_37n	missense	52	44.68	42	SNP	0.999	A
SRRM2	23524	genome.wustl.edu	37	16	2816577	2816577	+	Silent	SNP	C	C	T	rs557333774		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:2816577C>T	ENST00000301740.8	+	11	6597	c.6048C>T	c.(6046-6048)cgC>cgT	p.R2016R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2016	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGACACGCCGCCGCTCTAGGT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17537	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													61.0	66.0	65.0					16																	2816577		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6048C>T	16.37:g.2816577C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.R2016	ENST00000301740.8	37	c.6048	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	226	0.00	0	C			2816577	2816577	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	silent	157	19.49	38	SNP	0.997	T
SS18	6760	genome.wustl.edu	37	18	23637702	23637702	+	Missense_Mutation	SNP	G	G	T	rs553873019		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:23637702G>T	ENST00000415083.2	-	4	291	c.236C>A	c.(235-237)cCc>cAc	p.P79H	SS18_ENST00000539849.1_5'UTR|SS18_ENST00000269137.7_Missense_Mutation_p.P79H|SS18_ENST00000545952.1_Missense_Mutation_p.P27H|SS18_ENST00000542420.2_Missense_Mutation_p.P56H|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_Missense_Mutation_p.P27H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	79	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATTCTGTGTGGGTGGCTGAAA	0.458			T	"""SSX1,  SSX2"""	synovial sarcoma																																	dbGAP		Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0													83.0	86.0	85.0					18																	23637702		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.236C>A	18.37:g.23637702G>T	ENSP00000414516:p.Pro79His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	pfam_SSXT	p.P79H	ENST00000415083.2	37	c.236	CCDS32807.1	18	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402046	0.42613	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000545952	T;T;T;T	0.51071	1.37;1.36;0.72;0.72	5.17	5.17	0.71159	.	0.047161	0.85682	D	0.000000	T	0.65995	0.2745	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.969	T	0.61574	-0.7035	10	0.34782	T	0.22	-2.9648	18.8737	0.92327	0.0:0.0:1.0:0.0	.	27;79;79	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	H	82;79;79;56;27;27	ENSP00000269137:P79H;ENSP00000438066:P56H;ENSP00000444551:P27H;ENSP00000443097:P27H	ENSP00000269137:P79H	P	-	2	0	SS18	21891700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.242000	0.95408	2.703000	0.92315	0.655000	0.94253	CCC	SS18	-	NULL	ENSG00000141380		0.458	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SS18	HGNC	protein_coding	OTTHUMT00000446226.1	55	0.00	0	G			23637702	23637702	-1	no_errors	ENST00000415083	ensembl	human	known	69_37n	missense	69	18.82	16	SNP	1.000	T
SSH1	54434	genome.wustl.edu	37	12	109201438	109201438	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:109201438C>T	ENST00000326495.5	-	8	795	c.702G>A	c.(700-702)cgG>cgA	p.R234R	SSH1_ENST00000551165.1_Silent_p.R234R|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.R245R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	234					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGAGTCGGGCCGCGTAGACT	0.612																																						dbGAP											0													91.0	95.0	93.0					12																	109201438		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.702G>A	12.37:g.109201438C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_DEK_C	p.G10D	ENST00000326495.5	37	c.29	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.612	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	73	0.00	0	C	NM_018984		109201438	109201438	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000546433	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	T
ST3GAL6	10402	genome.wustl.edu	37	3	98512545	98512545	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:98512545G>A	ENST00000483910.1	+	10	1225	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ST3GAL6_ENST00000394162.1_Silent_p.E312E|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Silent_p.E194E	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	312					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGACTGCAGAGCAGCTCTTTT	0.358																																						dbGAP											0													113.0	118.0	116.0					3																	98512545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.936G>A	3.37:g.98512545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH2|B3KMI1|D3DN39|F8W6U0	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E312	ENST00000483910.1	37	c.936	CCDS2933.1	3																																																																																			ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000064225		0.358	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	163	0.00	0	G	NM_006100		98512545	98512545	+1	no_errors	ENST00000394162	ensembl	human	known	69_37n	silent	92	41.77	66	SNP	0.956	A
SSR3	6747	genome.wustl.edu	37	3	156260929	156260929	+	3'UTR	SNP	C	C	T	rs59212885		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:156260929C>T	ENST00000265044.2	-	0	715				SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000476217.1_3'UTR|SSR3_ENST00000467789.1_3'UTR|SSR3_ENST00000463503.1_Intron	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACCACCCTGCTACTTTTCCA	0.453																																						dbGAP											0													35.0	29.0	31.0					3																	156260929		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.*63G>A	3.37:g.156260929C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7D0|B4E2P2|D3DNK5|Q549M4	RNA	SNP	-	NULL	ENST00000265044.2	37	NULL	CCDS3176.1	3																																																																																			SSR3	-	-	ENSG00000114850		0.453	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR3	HGNC	protein_coding	OTTHUMT00000351521.1	59	0.00	0	C	NM_007107		156260929	156260929	-1	no_errors	ENST00000478842	ensembl	human	known	69_37n	rna	52	20.00	13	SNP	0.056	T
ST6GAL1	6480	genome.wustl.edu	37	3	186760990	186760990	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:186760990G>T	ENST00000169298.3	+	4	1173	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G167C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	167					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGAATGGGAGGGTTATCTGCC	0.557																																						dbGAP											0													103.0	100.0	101.0					3																	186760990		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.499G>T	3.37:g.186760990G>T	ENSP00000169298:p.Gly167Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.G167C	ENST00000169298.3	37	c.499	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680384	0.68042	.	.	ENSG00000073849	ENST00000169298;ENST00000448044	T;T	0.29917	1.55;1.55	5.58	4.49	0.54785	.	0.588368	0.19947	N	0.102502	T	0.42765	0.1217	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	T	0.22452	-1.0216	10	0.59425	D	0.04	-7.2971	7.2578	0.26187	0.1411:0.0:0.8589:0.0	.	167	P15907	SIAT1_HUMAN	C	167	ENSP00000169298:G167C;ENSP00000389337:G167C	ENSP00000169298:G167C	G	+	1	0	ST6GAL1	188243684	0.998000	0.40836	1.000000	0.80357	0.919000	0.55068	2.518000	0.45537	2.793000	0.96121	0.655000	0.94253	GGT	ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000073849		0.557	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	129	0.00	0	G	NM_173216		186760990	186760990	+1	no_errors	ENST00000169298	ensembl	human	known	69_37n	missense	107	17.69	23	SNP	1.000	T
ST6GAL1	6480	genome.wustl.edu	37	3	186790685	186790685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:186790685G>T	ENST00000169298.3	+	6	1428	c.754G>T	c.(754-756)Gga>Tga	p.G252*	ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.G21*|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.G252*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	252					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GTACAATGAAGGAATCCTAAT	0.433																																						dbGAP											0													142.0	139.0	140.0					3																	186790685		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.754G>T	3.37:g.186790685G>T	ENSP00000169298:p.Gly252*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA14|B2R513|D3DNV3	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.G252*	ENST00000169298.3	37	c.754	CCDS3285.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.239364	0.98722	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000455441;ENST00000427315;ENST00000448044;ENST00000442023	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-18.3343	12.8522	0.57864	0.0:0.0:1.0:0.0	.	.	.	.	X	252;21;21;21;252;21	.	ENSP00000169298:G252X	G	+	1	0	ST6GAL1	188273379	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.049000	0.76613	2.756000	0.94617	0.655000	0.94253	GGA	ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000073849		0.433	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	226	0.00	0	G	NM_173216		186790685	186790685	+1	no_errors	ENST00000169298	ensembl	human	known	69_37n	nonsense	134	22.99	40	SNP	1.000	T
ST6GALNAC1	55808	genome.wustl.edu	37	17	74622472	74622472	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:74622472G>A	ENST00000156626.7	-	6	1513	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	438					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGTAGCGGACGTCCTGAGGAC	0.557																																						dbGAP											0													73.0	61.0	65.0					17																	74622472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1314C>T	17.37:g.74622472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW90|Q9NSC6	Missense_Mutation	SNP	NULL	p.T1M	ENST00000156626.7	37	c.2	CCDS11748.1	17																																																																																			ST6GALNAC1	-	NULL	ENSG00000070526		0.557	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	168	0.00	0	G	NM_018414		74622472	74622472	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000585633	ensembl	human	known	69_37n	missense	96	15.04	17	SNP	0.120	A
ST6GALNAC5	81849	genome.wustl.edu	37	1	77510159	77510159	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:77510159C>T	ENST00000477717.1	+	3	767	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	178					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCTACATGCGGCGGGACGG	0.617																																						dbGAP											0													77.0	74.0	75.0					1																	77510159		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.532C>T	1.37:g.77510159C>T	ENSP00000417583:p.Arg178Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK82	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R178W	ENST00000477717.1	37	c.532	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159640	0.78226	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31510	1.49	5.72	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57602	-0.7783	10	0.42905	T	0.14	-9.8678	14.0271	0.64592	0.3297:0.6703:0.0:0.0	.	178	Q9BVH7	SIA7E_HUMAN	W	178;88	ENSP00000417583:R178W	ENSP00000436263:R178W	R	+	1	2	ST6GALNAC5	77282747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.031000	0.41117	1.389000	0.46526	0.655000	0.94253	CGG	ST6GALNAC5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000117069		0.617	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2	127	0.00	0	C	NM_030965		77510159	77510159	+1	no_errors	ENST00000477717	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	T
ST8SIA3	51046	genome.wustl.edu	37	18	55024628	55024628	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:55024628delT	ENST00000324000.3	+	3	2821	c.787delT	c.(787-789)tttfs	p.F264fs		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	264					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F263I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTAGTTGACTTTTTTGTTGA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	64.0	63.0					18																	55024628		2127	4120	6247	-	-	-	SO:0001589	frameshift_variant	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.787delT	18.37:g.55024628delT	ENSP00000320431:p.Phe264fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0F2|Q6B085|Q9NS41	Frame_Shift_Del	DEL	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.F264fs	ENST00000324000.3	37	c.787	CCDS32834.1	18																																																																																			ST8SIA3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000177511		0.393	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	127	0.00	0	T	NM_015879		55024628	55024628	+1	no_errors	ENST00000324000	ensembl	human	known	69_37n	frame_shift_del	66	14.29	11	DEL	1.000	-
STAB2	55576	genome.wustl.edu	37	12	104155174	104155174	+	Frame_Shift_Del	DEL	C	C	-	rs141730395	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:104155174delC	ENST00000388887.2	+	66	7549	c.7345delC	c.(7345-7347)cccfs	p.P2450fs	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTAAAAGCACCCCCTGCCCC	0.552																																						dbGAP											0													128.0	110.0	116.0					12																	104155174		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7345delC	12.37:g.104155174delC	ENSP00000373539:p.Pro2450fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.P2450fs	ENST00000388887.2	37	c.7345	CCDS31888.1	12																																																																																			STAB2	-	superfamily_FAS1_domain	ENSG00000136011		0.552	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	61	0.00	0	C			104155174	104155174	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	frame_shift_del	78	10.23	9	DEL	1.000	-
STAT5B	6777	genome.wustl.edu	37	17	40369266	40369266	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:40369266C>T	ENST00000293328.3	-	11	1460	c.1292G>A	c.(1291-1293)gGg>gAg	p.G431E		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	431					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CGACTCTGCCCCACGACGGTC	0.418																																						dbGAP											0													106.0	93.0	98.0					17																	40369266		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1292G>A	17.37:g.40369266C>T	ENSP00000293328:p.Gly431Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.G431E	ENST00000293328.3	37	c.1292	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.205575	0.95033	.	.	ENSG00000173757	ENST00000293328	D	0.91521	-2.86	4.88	4.88	0.63580	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.95376	0.8469	10	0.87932	D	0	-2.6729	18.2148	0.89881	0.0:1.0:0.0:0.0	.	431	P51692	STA5B_HUMAN	E	431	ENSP00000293328:G431E	ENSP00000293328:G431E	G	-	2	0	STAT5B	37622792	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.539000	0.82063	2.532000	0.85374	0.561000	0.74099	GGG	STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000173757		0.418	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	109	0.91	1	C	NM_012448		40369266	40369266	-1	no_errors	ENST00000293328	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	1.000	T
STAT5A	6776	genome.wustl.edu	37	17	40458298	40458298	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:40458298C>T	ENST00000345506.4	+	14	2155	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S	STAT5A_ENST00000590949.1_Missense_Mutation_p.P505S|STAT5A_ENST00000588868.1_Missense_Mutation_p.P474S|STAT5A_ENST00000452307.2_Missense_Mutation_p.P505S|STAT5A_ENST00000546010.2_Missense_Mutation_p.P475S|STAT5A_ENST00000587646.1_5'UTR	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	505					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGTGCTGTGGCCGCAGCTGTG	0.547																																						dbGAP											0													99.0	87.0	91.0					17																	40458298		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1513C>T	17.37:g.40458298C>T	ENSP00000341208:p.Pro505Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.P505S	ENST00000345506.4	37	c.1513	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056161	0.36277	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.87103	-2.21;-2.21;-2.21	4.65	4.65	0.58169	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.055523	0.64402	D	0.000001	T	0.75917	0.3915	N	0.16708	0.43	0.58432	D	0.999999	B;B;B	0.18013	0.005;0.006;0.025	B;B;B	0.18871	0.005;0.023;0.02	T	0.69978	-0.4998	10	0.17369	T	0.5	-50.9262	12.3743	0.55271	0.0:0.9179:0.0:0.0821	.	475;476;505	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	S	505;475;476;505	ENSP00000341208:P505S;ENSP00000443107:P475S;ENSP00000400320:P505S	ENSP00000341208:P505S	P	+	1	0	STAT5A	37711824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.254000	0.51477	2.293000	0.77203	0.561000	0.74099	CCG	STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.547	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	59	0.00	0	C	NM_003152		40458298	40458298	+1	no_errors	ENST00000345506	ensembl	human	known	69_37n	missense	40	32.20	19	SNP	1.000	T
STK19	8859	genome.wustl.edu	37	6	31948532	31948532	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:31948532C>A	ENST00000375333.2	+	7	1068	c.1015C>A	c.(1015-1017)Ctc>Atc	p.L339I	C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.L335I|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000428956.2_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	339					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGGCTTGGCCTCACCTACCA	0.612																																						dbGAP											0													23.0	26.0	25.0					6																	31948532		1506	2707	4213	-	-	-	SO:0001583	missense	0			X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.1015C>A	6.37:g.31948532C>A	ENSP00000364482:p.Leu339Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	pfam_Ser/Thr_kinase_19	p.L339I	ENST00000375333.2	37	c.1015	CCDS4733.1	6	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492340	0.26774	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.34859	1.34;1.34	4.65	3.78	0.43462	.	0.114749	0.56097	D	0.000038	T	0.20780	0.0500	L	0.36672	1.1	0.36469	D	0.867136	P;P;P;P	0.48089	0.775;0.607;0.905;0.659	B;B;P;B	0.47786	0.306;0.223;0.557;0.332	T	0.02766	-1.1113	10	0.44086	T	0.13	-17.0528	10.6145	0.45443	0.4762:0.5238:0.0:0.0	.	292;335;339;292	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	I	335;339	ENSP00000364480:L335I;ENSP00000364482:L339I	ENSP00000364480:L335I	L	+	1	0	STK19	32056511	1.000000	0.71417	0.820000	0.32676	0.105000	0.19272	2.671000	0.46842	1.173000	0.42796	0.555000	0.69702	CTC	STK19	-	pfam_Ser/Thr_kinase_19	ENSG00000204344		0.612	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STK19	HGNC	protein_coding	OTTHUMT00000076484.3	56	0.00	0	C			31948532	31948532	+1	no_errors	ENST00000375333	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	0.993	A
STK32B	55351	genome.wustl.edu	37	4	5468441	5468441	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:5468441G>A	ENST00000282908.5	+	10	1343	c.921G>A	c.(919-921)ttG>ttA	p.L307L	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.L230L|STK32B_ENST00000510398.1_Silent_p.L260L	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AAGGGAGGTTGAACTGCGATC	0.413																																						dbGAP											0													81.0	69.0	73.0					4																	5468441		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.921G>A	4.37:g.5468441G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L307	ENST00000282908.5	37	c.921	CCDS3380.1	4																																																																																			STK32B	-	superfamily_Kinase-like_dom	ENSG00000152953		0.413	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	66	0.00	0	G	NM_018401		5468441	5468441	+1	no_errors	ENST00000282908	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	1.000	A
STK33	65975	genome.wustl.edu	37	11	8462223	8462225	+	Splice_Site	DEL	ACA	ACA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:8462223_8462225delACA	ENST00000447869.1	-	8	1865_1866	c.947_948delTGT	c.(946-948)ttg>t	p.L317del	STK33_ENST00000358872.3_Splice_Site_p.L130del|STK33_ENST00000315204.1_Splice_Site_p.L317del|STK33_ENST00000396673.1_Splice_Site_p.L317del|STK33_ENST00000396672.1_Splice_Site_p.L317del|STK33_ENST00000534493.1_Splice_Site_p.L276del|STK33_ENST00000473980.1_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CAGGCTACTTACAACATGTACAT	0.355																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.947+1TGT>-	11.37:g.8462226_8462228delACA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658S6|Q8NEF5	Splice_Site	DEL	-	e9-1	ENST00000447869.1	37	c.947+2_947+1	CCDS7789.1	11																																																																																			STK33	-	-	ENSG00000130413		0.355	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	13	0.00	0	ACA	NM_030906	In_Frame_Del	8462223	8462225	-1	no_errors	ENST00000315204	ensembl	human	known	69_37n	splice_site_del	12	33.33	6	DEL	1.000:1.000:1.000	-
STXBP2	6813	genome.wustl.edu	37	19	7709526	7709526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:7709526delG	ENST00000221283.5	+	14	1165	c.1134delG	c.(1132-1134)gagfs	p.E378fs	STXBP2_ENST00000602355.1_5'Flank|STXBP2_ENST00000414284.2_Frame_Shift_Del_p.E375fs|STXBP2_ENST00000441779.2_Frame_Shift_Del_p.E389fs	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	378					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCGACGCAGAGGGGGAGAAGA	0.657																																						dbGAP											0													61.0	44.0	50.0					19																	7709526		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1134delG	19.37:g.7709526delG	ENSP00000221283:p.Glu378fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E175|E7EQD5|Q9BU65	Frame_Shift_Del	DEL	pfam_Sec1-like,superfamily_Sec1-like	p.E391fs	ENST00000221283.5	37	c.1167	CCDS12181.1	19																																																																																			STXBP2	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000076944		0.657	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	HGNC	protein_coding	OTTHUMT00000460963.1	37	0.00	0	G	NM_006949		7709526	7709526	+1	no_errors	ENST00000441779	ensembl	human	known	69_37n	frame_shift_del	17	28.00	7	DEL	1.000	-
SUPT5H	6829	genome.wustl.edu	37	19	39959803	39959804	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:39959803_39959804delGA	ENST00000599117.1	+	16	1595_1596	c.1228_1229delGA	c.(1228-1230)gagfs	p.E410fs	SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.E410fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.E406fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.E410fs|SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.E406fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	410	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGGTGACTGAGAGCACAGGT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1228_1229delGA	19.37:g.39959805_39959806delGA	ENSP00000470252:p.Glu410fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Frame_Shift_Del	DEL	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.S411fs	ENST00000599117.1	37	c.1228_1229	CCDS12536.1	19																																																																																			SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.604	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	65	0.00	0	GA	NM_003169		39959803	39959804	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	frame_shift_del	52	23.53	16	DEL	1.000:1.000	-
SUPT5H	6829	genome.wustl.edu	37	19	39960834	39960834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:39960834C>T	ENST00000599117.1	+	18	1817	c.1450C>T	c.(1450-1452)Cga>Tga	p.R484*	SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.R484*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.R480*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.R484*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.R480*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	484	KOW 3.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATTGCTGGCCGATTCGAGGG	0.542																																						dbGAP											0													152.0	135.0	141.0					19																	39960834		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1450C>T	19.37:g.39960834C>T	ENSP00000470252:p.Arg484*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.R484*	ENST00000599117.1	37	c.1450	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.994013	0.97987	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.78	4.74	0.60224	.	0.114071	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.6626	15.1187	0.72426	0.143:0.857:0.0:0.0	.	.	.	.	X	484;480;462;484	.	.	R	+	1	2	SUPT5H	44652674	1.000000	0.71417	0.993000	0.49108	0.318000	0.28184	2.496000	0.45346	1.437000	0.47472	-0.538000	0.04264	CGA	SUPT5H	-	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,pirsf_TF_Spt5	ENSG00000196235		0.542	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	268	0.00	0	C	NM_003169		39960834	39960834	+1	no_errors	ENST00000359191	ensembl	human	known	69_37n	nonsense	216	16.60	43	SNP	1.000	T
SUSD5	26032	genome.wustl.edu	37	3	33194344	33194345	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:33194344_33194345insC	ENST00000309558.3	-	5	2196_2197	c.1779_1780insG	c.(1777-1782)gggatgfs	p.M594fs		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	594					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCACACCATCCCCACACCTG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1780dupG	3.37:g.33194348_33194348dupC	ENSP00000308727:p.Met594fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.M593fs	ENST00000309558.3	37	c.1780_1779	CCDS46787.1	3																																																																																			SUSD5	-	NULL	ENSG00000173705		0.614	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	80	0.00	0	-	XM_171054		33194344	33194345	-1	no_errors	ENST00000309558	ensembl	human	known	69_37n	frame_shift_ins	40	34.43	21	INS	0.128:0.087	C
SUZ12	23512	genome.wustl.edu	37	17	30310055	30310055	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:30310055A>C	ENST00000322652.5	+	9	1184	c.955A>C	c.(955-957)Atg>Ctg	p.M319L	SUZ12_ENST00000580398.1_Missense_Mutation_p.M296L	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	319					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGAAGTAGCCATGCAGGAAAT	0.373			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													87.0	86.0	86.0					17																	30310055		2203	4297	6500	-	-	-	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.955A>C	17.37:g.30310055A>C	ENSP00000316578:p.Met319Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BD9	Missense_Mutation	SNP	pfam_Polycomb_protein_VEFS-Box	p.M319L	ENST00000322652.5	37	c.955	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593570	0.46214	.	.	ENSG00000178691	ENST00000322652	T	0.33654	1.4	4.59	4.59	0.56863	.	0.040380	0.85682	D	0.000000	T	0.24812	0.0602	L	0.33137	0.985	0.58432	D	0.999991	B;B	0.17038	0.02;0.008	B;B	0.17722	0.019;0.008	T	0.07195	-1.0785	10	0.02654	T	1	-1.7469	14.0294	0.64606	1.0:0.0:0.0:0.0	.	319;319	A8K1U9;Q15022	.;SUZ12_HUMAN	L	319	ENSP00000316578:M319L	ENSP00000316578:M319L	M	+	1	0	SUZ12	27334168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	1.708000	0.51301	0.487000	0.48397	ATG	SUZ12	-	NULL	ENSG00000178691		0.373	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	182	0.00	0	A	NM_015355		30310055	30310055	+1	no_errors	ENST00000322652	ensembl	human	known	69_37n	missense	129	39.81	86	SNP	1.000	C
SVIP	258010	genome.wustl.edu	37	11	22848802	22848803	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:22848802_22848803insT	ENST00000354193.4	-	3	285_286	c.169_170insA	c.(169-171)atafs	p.I57fs	RP11-17A1.3_ENST00000499625.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA|SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	57					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTGTTTTTCTATTTTTTCCTTT	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.170dupA	11.37:g.22848808_22848808dupT	ENSP00000346130:p.Ile57fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.I57fs	ENST00000354193.4	37	c.170_169	CCDS41627.1	11																																																																																			SVIP	-	NULL	ENSG00000198168		0.337	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SVIP	HGNC	protein_coding	OTTHUMT00000387725.2	156	0.00	0	-	NM_148893		22848802	22848803	-1	no_errors	ENST00000354193	ensembl	human	known	69_37n	frame_shift_ins	112	30.86	50	INS	0.996:0.987	T
SYAP1	94056	genome.wustl.edu	37	X	16753435	16753437	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:16753435_16753437delAGA	ENST00000380155.3	+	2	354_356	c.261_263delAGA	c.(259-264)gtagaa>gta	p.E89del	SYAP1_ENST00000495743.1_3'UTR	NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	89						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAAATCCGTAGAAGAAGGAAAA	0.305																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.261_263delAGA	X.37:g.16753438_16753440delAGA	ENSP00000369500:p.Glu89del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CP1|Q96C60|Q96JQ6|Q96T20	In_Frame_Del	DEL	pfam_BSD,smart_BSD,pfscan_BSD	p.E89in_frame_del	ENST00000380155.3	37	c.261_263	CCDS14177.1	X																																																																																			SYAP1	-	NULL	ENSG00000169895		0.305	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYAP1	HGNC	protein_coding	OTTHUMT00000055904.1	165	0.00	0	AGA	NM_032796		16753435	16753437	+1	no_errors	ENST00000380155	ensembl	human	known	69_37n	in_frame_del	94	34.03	49	DEL	0.994:1.000:1.000	-
SYBU	55638	genome.wustl.edu	37	8	110631211	110631211	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:110631211G>A	ENST00000422135.1	-	4	802	c.287C>T	c.(286-288)gCt>gTt	p.A96V	SYBU_ENST00000446070.2_Missense_Mutation_p.A95V|SYBU_ENST00000528331.1_5'UTR|SYBU_ENST00000419099.1_Missense_Mutation_p.A95V|SYBU_ENST00000533895.1_Missense_Mutation_p.A95V|SYBU_ENST00000408908.2_Missense_Mutation_p.A96V|SYBU_ENST00000424158.2_Missense_Mutation_p.A101V|SYBU_ENST00000533171.1_Missense_Mutation_p.A96V|SYBU_ENST00000408889.3_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.A28V|SYBU_ENST00000533065.1_5'UTR|SYBU_ENST00000440310.1_Missense_Mutation_p.A96V|SYBU_ENST00000528647.1_Missense_Mutation_p.A95V|SYBU_ENST00000399066.3_Missense_Mutation_p.A93V|SYBU_ENST00000276646.9_Missense_Mutation_p.A96V|SYBU_ENST00000433638.1_Missense_Mutation_p.A96V	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	96	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTGTTTCCAGCATCTGAGGG	0.473																																						dbGAP											0													87.0	86.0	86.0					8																	110631211		1909	4127	6036	-	-	-	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.287C>T	8.37:g.110631211G>A	ENSP00000407118:p.Ala96Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.A96V	ENST00000422135.1	37	c.287	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641665	0.87859	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184	.	.	.	5.91	5.91	0.95273	.	0.389095	0.30890	N	0.008661	T	0.57770	0.2076	L	0.53249	1.67	0.80722	D	1	P;P;B;P	0.38827	0.51;0.51;0.421;0.649	B;B;B;B	0.37601	0.185;0.185;0.254;0.254	T	0.61821	-0.6984	9	0.72032	D	0.01	-1.7988	19.2777	0.94039	0.0:0.0:1.0:0.0	.	28;95;96;93	Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;SYBU_HUMAN;.	V	95;101;28;93;95;96;95;96;95;96;96;96;96;95;95;96;96;95	.	ENSP00000276646:A96V	A	-	2	0	SYBU	110700387	0.985000	0.35326	0.905000	0.35620	0.984000	0.73092	7.523000	0.81856	2.794000	0.96219	0.655000	0.94253	GCT	SYBU	-	NULL	ENSG00000147642		0.473	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	135	0.00	0	G	NM_017786		110631211	110631211	-1	no_errors	ENST00000276646	ensembl	human	known	69_37n	missense	180	17.05	37	SNP	0.992	A
SYNCRIP	10492	genome.wustl.edu	37	6	86324791	86324791	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:86324791C>T	ENST00000369622.3	-	11	2055	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G519S|RP11-321N4.5_ENST00000503906.1_Silent_p.A54A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	519	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCGGCTCTACCGCGGGGAGGA	0.587																																						dbGAP											0													89.0	93.0	92.0					6																	86324791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1555G>A	6.37:g.86324791C>T	ENSP00000358635:p.Gly519Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G519S	ENST00000369622.3	37	c.1555	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305856	0.60305	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.32272	1.51;1.46	5.18	5.18	0.71444	.	0.045811	0.85682	D	0.000000	T	0.47284	0.1437	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.80764	0.987;0.994;0.987;0.994;0.994;0.994;0.987	T	0.47459	-0.9116	10	0.59425	D	0.04	.	18.6907	0.91582	0.0:1.0:0.0:0.0	.	519;484;421;367;484;519;519	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	S	519	ENSP00000347380:G519S;ENSP00000358635:G519S	ENSP00000347380:G519S	G	-	1	0	SYNCRIP	86381510	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.956000	0.70315	2.410000	0.81850	0.563000	0.77884	GGT	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.587	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	220	0.00	0	C	NM_006372		86324791	86324791	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	missense	189	21.58	52	SNP	1.000	T
SYNCRIP	10492	genome.wustl.edu	37	6	86332354	86332354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:86332354delT	ENST00000369622.3	-	8	1354	c.854delA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Del_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAGCCTCTGTTTTTTTTCTT	0.413																																						dbGAP											0													116.0	119.0	118.0					6																	86332354		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.854delA	6.37:g.86332354delT	ENSP00000358635:p.Asn285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.N285fs	ENST00000369622.3	37	c.854	CCDS5005.1	6																																																																																			SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.413	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	275	0.36	1	T	NM_006372		86332354	86332354	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	frame_shift_del	239	34.06	125	DEL	1.000	-
SYNE2	23224	genome.wustl.edu	37	14	64443312	64443312	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:64443312C>T	ENST00000344113.4	+	12	1372	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.A387V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A387V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	387					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTAAATTATGCCTTGCCCCCA	0.383																																						dbGAP											0													140.0	137.0	138.0					14																	64443312		1845	4092	5937	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1160C>T	14.37:g.64443312C>T	ENSP00000341781:p.Ala387Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A387V	ENST00000344113.4	37	c.1160	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777652	0.31502	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57273	0.78;0.78;0.41	5.14	-2.83	0.05769	.	0.566096	0.15960	N	0.236304	T	0.21267	0.0512	N	0.05383	-0.06	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.15636	-1.0430	10	0.14656	T	0.56	.	3.3873	0.07276	0.4412:0.1776:0.0:0.3812	.	387;387	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	387	ENSP00000350719:A387V;ENSP00000341781:A387V;ENSP00000452570:A387V	ENSP00000261678:A387V	A	+	2	0	SYNE2	63513065	0.000000	0.05858	0.024000	0.17045	0.422000	0.31414	-0.430000	0.06973	-0.383000	0.07858	0.491000	0.48974	GCC	SYNE2	-	NULL	ENSG00000054654		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	294	0.67	2	C	NM_182914		64443312	64443312	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	263	21.49	72	SNP	0.008	T
SYNE3	161176	genome.wustl.edu	37	14	95932278	95932278	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:95932278G>A	ENST00000334258.5	-	3	631	c.617C>T	c.(616-618)gCc>gTc	p.A206V	SYNE3_ENST00000553340.1_Missense_Mutation_p.A206V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A206V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	206					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTGGGCCTTGGCCTTCACTGC	0.572																																						dbGAP											0													131.0	103.0	112.0					14																	95932278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.617C>T	14.37:g.95932278G>A	ENSP00000334308:p.Ala206Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.A206V	ENST00000334258.5	37	c.617	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	g	7.495	0.651540	0.14516	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.10960	3.4;3.4;2.82	4.06	3.11	0.35812	.	0.650161	0.12624	N	0.452739	T	0.12305	0.0299	M	0.70595	2.14	0.24811	N	0.992645	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.14023	0.01;0.01;0.004	T	0.30090	-0.9990	10	0.30854	T	0.27	-6.1328	4.8069	0.13325	0.1257:0.0:0.4941:0.3802	.	206;206;206	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	V	206	ENSP00000334308:A206V;ENSP00000450562:A206V;ENSP00000450774:A206V	ENSP00000334308:A206V	A	-	2	0	C14orf49	95002031	0.956000	0.32656	0.998000	0.56505	0.322000	0.28314	1.765000	0.38481	0.607000	0.29982	0.298000	0.19748	GCC	SYNE3	-	NULL	ENSG00000176438		0.572	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	39	0.00	0	G	NM_152592		95932278	95932278	-1	no_errors	ENST00000334258	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.999	A
SYT13	57586	genome.wustl.edu	37	11	45274267	45274267	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:45274267G>A	ENST00000020926.3	-	4	662	c.551C>T	c.(550-552)aCc>aTc	p.T184I	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	184	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTGGTTGCTGGTCACAGCTGC	0.592											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													64.0	61.0	62.0					11																	45274267		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.551C>T	11.37:g.45274267G>A	ENSP00000020926:p.Thr184Ile	Somatic	930	WXS	Illumina GAIIx	Phase_IV	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T184I	ENST00000020926.3	37	c.551	CCDS31470.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.42|13.42	2.232615|2.232615	0.39498|0.39498	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000528101|ENST00000020926	.|T	.|0.08193	.|3.12	5.85|5.85	4.95|4.95	0.65309|0.65309	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.177761	.|0.48767	.|D	.|0.000161	T|T	0.12603|0.12603	0.0306|0.0306	L|L	0.47716|0.47716	1.5|1.5	0.34219|0.34219	D|D	0.675254|0.675254	.|P	.|0.43973	.|0.823	.|P	.|0.49502	.|0.613	T|T	0.14337|0.14337	-1.0476|-1.0476	5|10	.|0.72032	.|D	.|0.01	.|.	6.8155|6.8155	0.23829|0.23829	0.0707:0.1266:0.6717:0.131|0.0707:0.1266:0.6717:0.131	.|.	.|184	.|Q7L8C5	.|SYT13_HUMAN	S|I	144|184	.|ENSP00000020926:T184I	.|ENSP00000020926:T184I	P|T	-|-	1|2	0|0	SYT13|SYT13	45230843|45230843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.033000|0.033000	0.12548|0.12548	1.624000|1.624000	0.37018|0.37018	1.490000|1.490000	0.48466|0.48466	0.561000|0.561000	0.74099|0.74099	CCA|ACC	SYT13	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000019505		0.592	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	99	0.00	0	G	NM_020826		45274267	45274267	-1	no_errors	ENST00000020926	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43888866	43888866	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:43888866delG	ENST00000562955.1	+	15	2134	c.2134delG	c.(2134-2136)gggfs	p.G713fs	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	713					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AAAAGGGCTAGGGGGTGCTGG	0.632																																						dbGAP											0													22.0	22.0	22.0					1																	43888866		876	1989	2865	-	-	-	SO:0001589	frameshift_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2134delG	1.37:g.43888866delG	ENSP00000457168:p.Gly713fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	NULL	p.G713fs	ENST00000562955.1	37	c.2134	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.632	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	28	0.00	0	G	NM_015284		43888866	43888866	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	frame_shift_del	7	56.52	13	DEL	0.946	-
SZT2	23334	genome.wustl.edu	37	1	43895456	43895456	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:43895456C>A	ENST00000562955.1	+	28	4078	c.4078C>A	c.(4078-4080)Ctg>Atg	p.L1360M	SZT2_ENST00000372442.1_Missense_Mutation_p.L518M	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1417					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAGATCTCTCTGACAGATGT	0.567																																						dbGAP											0													79.0	76.0	77.0					1																	43895456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4078C>A	1.37:g.43895456C>A	ENSP00000457168:p.Leu1360Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.L1360M	ENST00000562955.1	37	c.4078	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464417	0.63513	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.7	4.8	0.61643	.	0.364393	0.21628	N	0.071529	T	0.54029	0.1833	L	0.43152	1.355	0.23063	N	0.998351	D	0.76494	0.999	D	0.66979	0.948	T	0.47983	-0.9074	9	0.59425	D	0.04	.	12.5749	0.56357	0.0:0.9227:0.0:0.0773	.	1360	Q5T011-5	.	M	518	.	ENSP00000361519:L518M	L	+	1	2	SZT2	43668043	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.905000	0.39878	1.417000	0.47077	0.655000	0.94253	CTG	SZT2	-	NULL	ENSG00000198198		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	149	0.00	0	C	NM_015284		43895456	43895456	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	61	24.69	20	SNP	1.000	A
SZT2	23334	genome.wustl.edu	37	1	43906183	43906183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:43906183delC	ENST00000562955.1	+	51	7099	c.7099delC	c.(7099-7101)cccfs	p.P2368fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P1526fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2425					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.P1525S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TAGCACCTTTCCCCCTGCCCC	0.567																																						dbGAP											2	Substitution - Missense(2)	skin(2)											106.0	103.0	104.0					1																	43906183		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7099delC	1.37:g.43906183delC	ENSP00000457168:p.Pro2368fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	NULL	p.P2368fs	ENST00000562955.1	37	c.7099	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	183	0.00	0	C	NM_015284		43906183	43906183	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	frame_shift_del	72	14.12	12	DEL	0.999	-
SYT6	148281	genome.wustl.edu	37	1	114682359	114682359	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:114682359C>T	ENST00000610222.1	-	2	536	c.390G>A	c.(388-390)gcG>gcA	p.A130A	SYT6_ENST00000609117.1_Silent_p.A45A|SYT6_ENST00000393296.1_Silent_p.A130A|SYT6_ENST00000369547.1_Silent_p.A45A|SYT6_ENST00000607941.1_Silent_p.A45A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	130					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTCACGGCCGCCTCCAGGA	0.612																																						dbGAP											0													87.0	82.0	84.0					1																	114682359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.390G>A	1.37:g.114682359C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMB8|B3KPK1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.A130	ENST00000610222.1	37	c.390		1																																																																																			SYT6	-	NULL	ENSG00000134207		0.612	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	51	0.00	0	C	NM_205848		114682359	114682359	-1	no_errors	ENST00000369545	ensembl	human	known	69_37n	silent	25	35.90	14	SNP	0.895	T
TAAR2	9287	genome.wustl.edu	37	6	132938709	132938709	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:132938709G>T	ENST00000367931.1	-	2	635	c.636C>A	c.(634-636)acC>acA	p.T212T	TAAR2_ENST00000537809.1_Silent_p.T167T|TAAR2_ENST00000275191.2_Silent_p.T167T			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	212					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCATAAACAAGGTGGTCCCCC	0.453																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.636C>A	6.37:g.132938709G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.T212	ENST00000367931.1	37	c.636	CCDS34541.1	6																																																																																			TAAR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000146378		0.453	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	254	0.00	0	G	NM_014626		132938709	132938709	-1	no_errors	ENST00000367931	ensembl	human	known	69_37n	silent	192	16.52	38	SNP	0.875	T
TAF1L	138474	genome.wustl.edu	37	9	32633582	32633582	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:32633582C>T	ENST00000242310.4	-	1	2085	c.1996G>A	c.(1996-1998)Gcc>Acc	p.A666T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	666					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCATCTTGGCCTTTTTTTTG	0.473																																						dbGAP											0													153.0	143.0	147.0					9																	32633582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1996G>A	9.37:g.32633582C>T	ENSP00000418379:p.Ala666Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.A666T	ENST00000242310.4	37	c.1996	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976183	0.53720	.	.	ENSG00000122728	ENST00000242310	T	0.14144	2.53	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	M	0.64567	1.98	0.58432	D	0.999991	D	0.53885	0.963	P	0.56216	0.794	T	0.01894	-1.1252	10	0.59425	D	0.04	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	666	Q8IZX4	TAF1L_HUMAN	T	666	ENSP00000418379:A666T	ENSP00000418379:A666T	A	-	1	0	TAF1L	32623582	1.000000	0.71417	0.994000	0.49952	0.654000	0.38779	3.378000	0.52432	0.632000	0.30432	0.195000	0.17529	GCC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	290	0.00	0	C			32633582	32633582	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	192	24.90	64	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)aagfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											151.0	142.0	145.0					9																	32633584		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1994delA	9.37:g.32633584delT	ENSP00000418379:p.Lys665fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Frame_Shift_Del	DEL	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.K665fs	ENST00000242310.4	37	c.1994	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	283	0.00	0	T			32633584	32633584	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	frame_shift_del	191	24.61	63	DEL	1.000	-
TANC2	26115	genome.wustl.edu	37	17	61432175	61432175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:61432175delT	ENST00000424789.2	+	12	1788	c.1784delT	c.(1783-1785)attfs	p.I595fs	TANC2_ENST00000389520.4_Frame_Shift_Del_p.I595fs	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	595					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCCATAGGATTTTTTTGGAT	0.428																																						dbGAP											0													83.0	79.0	80.0					17																	61432175		1866	4101	5967	-	-	-	SO:0001589	frameshift_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1784delT	17.37:g.61432175delT	ENSP00000387593:p.Ile595fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L597fs	ENST00000424789.2	37	c.1784	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.428	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	402	0.25	1	T			61432175	61432175	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	frame_shift_del	331	33.40	169	DEL	1.000	-
TAS2R19	259294	genome.wustl.edu	37	12	11174586	11174586	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:11174586delA	ENST00000390673.2	-	1	633	c.585delT	c.(583-585)tttfs	p.F195fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	195					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTAACAGCAGAAAACATATTA	0.403																																						dbGAP											0													149.0	144.0	146.0					12																	11174586		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.585delT	12.37:g.11174586delA	ENSP00000375091:p.Phe195fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIJ4|Q645X8	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.L196fs	ENST00000390673.2	37	c.585	CCDS8640.1	12																																																																																			TAS2R19	-	pfam_TAS2_rcpt	ENSG00000212124		0.403	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	337	0.00	0	A	NM_176888		11174586	11174586	-1	no_errors	ENST00000390673	ensembl	human	known	69_37n	frame_shift_del	298	15.92	57	DEL	0.003	-
TAS2R3	50831	genome.wustl.edu	37	7	141464825	141464825	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:141464825T>C	ENST00000247879.2	+	1	929	c.867T>C	c.(865-867)agT>agC	p.S289S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	289					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TGGGGAACAGTAAGCTGAAGC	0.443																																						dbGAP											0													135.0	127.0	129.0					7																	141464825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.867T>C	7.37:g.141464825T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1U2|Q645W2|Q75MV6	Silent	SNP	pfam_TAS2_rcpt	p.S289	ENST00000247879.2	37	c.867	CCDS5867.1	7																																																																																			TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.443	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	324	0.00	0	T			141464825	141464825	+1	no_errors	ENST00000247879	ensembl	human	known	69_37n	silent	216	31.86	101	SNP	0.001	C
TAS2R31	259290	genome.wustl.edu	37	12	11183780	11183780	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:11183780G>A	ENST00000390675.2	-	1	226	c.155C>T	c.(154-156)gCg>gTg	p.A52V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	52					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						TCTGGAGACCGCCAGAGCAGT	0.378																																						dbGAP											0													73.0	79.0	77.0					12																	11183780		1990	4243	6233	-	-	-	SO:0001583	missense	0			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.155C>T	12.37:g.11183780G>A	ENSP00000375093:p.Ala52Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.A52V	ENST00000390675.2	37	c.155	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138544	0.37728	.	.	ENSG00000256436	ENST00000390675	T	0.56275	0.47	2.45	2.45	0.29901	.	.	.	.	.	T	0.50069	0.1594	L	0.58428	1.81	0.09310	N	1	P	0.46621	0.881	P	0.44477	0.451	T	0.40496	-0.9560	9	0.51188	T	0.08	.	8.4256	0.32727	0.0:0.0:1.0:0.0	.	52	P59538	T2R31_HUMAN	V	52	ENSP00000375093:A52V	ENSP00000375093:A52V	A	-	2	0	TAS2R31	11075047	0.005000	0.15991	0.003000	0.11579	0.087000	0.18053	-0.032000	0.12266	1.379000	0.46325	0.194000	0.17425	GCG	TAS2R31	-	pfam_TAS2_rcpt	ENSG00000256436		0.378	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	326	0.00	0	G	NM_176885		11183780	11183780	-1	no_errors	ENST00000390675	ensembl	human	known	69_37n	missense	326	18.09	72	SNP	0.009	A
TAX1BP1	8887	genome.wustl.edu	37	7	27827107	27827107	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:27827107A>T	ENST00000396319.2	+	8	1011	c.923A>T	c.(922-924)gAt>gTt	p.D308V	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.D308V|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.D151V|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.D308V|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.D308V	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	308					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAAAATTTAGATGGGAACAAA	0.348																																						dbGAP											0													76.0	81.0	79.0					7																	27827107		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.923A>T	7.37:g.27827107A>T	ENSP00000379612:p.Asp308Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	pfam_CoCoA	p.D308V	ENST00000396319.2	37	c.923	CCDS5415.1	7	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537481	0.85917	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.34072	2.82;2.82;2.82;1.38;2.84	5.98	5.98	0.97165	.	0.000000	0.56097	D	0.000036	T	0.56352	0.1979	L	0.55743	1.74	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.995	D;D;D	0.75020	0.98;0.985;0.975	T	0.56559	-0.7959	10	0.59425	D	0.04	-27.5898	16.4781	0.84144	1.0:0.0:0.0:0.0	.	151;308;308	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	V	308;308;308;151;308	ENSP00000444811:D308V;ENSP00000265393:D308V;ENSP00000386515:D308V;ENSP00000391907:D151V;ENSP00000379612:D308V	ENSP00000265393:D308V	D	+	2	0	TAX1BP1	27793632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.265000	0.89869	2.288000	0.76882	0.528000	0.53228	GAT	TAX1BP1	-	pfam_CoCoA	ENSG00000106052		0.348	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	HGNC	protein_coding	OTTHUMT00000214142.1	126	0.00	0	A	NM_006024		27827107	27827107	+1	no_errors	ENST00000396319	ensembl	human	known	69_37n	missense	109	12.10	15	SNP	1.000	T
TBC1D12	23232	genome.wustl.edu	37	10	96253157	96253157	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:96253157G>A	ENST00000225235.4	+	4	1357	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	416							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GAAGCTTTACGTCACCGACAA	0.313																																						dbGAP											0													87.0	90.0	89.0					10																	96253157		1809	4083	5892	-	-	-	SO:0001583	missense	0			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1247G>A	10.37:g.96253157G>A	ENSP00000225235:p.Arg416His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R416H	ENST00000225235.4	37	c.1247	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943118	0.73672	.	.	ENSG00000108239	ENST00000225235	T	0.58506	0.33	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.48642	1.525	0.47994	D	0.999565	P	0.42973	0.796	B	0.35073	0.195	T	0.58267	-0.7666	10	0.62326	D	0.03	-8.52	16.3825	0.83473	0.0:0.0:1.0:0.0	.	416	O60347	TBC12_HUMAN	H	416	ENSP00000225235:R416H	ENSP00000225235:R416H	R	+	2	0	TBC1D12	96243147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.545000	0.60698	2.809000	0.96659	0.655000	0.94253	CGT	TBC1D12	-	NULL	ENSG00000108239		0.313	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	HGNC	protein_coding	OTTHUMT00000049482.2	133	0.00	0	G			96253157	96253157	+1	no_errors	ENST00000225235	ensembl	human	known	69_37n	missense	104	21.80	29	SNP	1.000	A
TBC1D2	55357	genome.wustl.edu	37	9	100962587	100962587	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100962587G>A	ENST00000375064.1	-	12	2565	c.2527C>T	c.(2527-2529)Ctg>Ttg	p.L843L	TBC1D2_ENST00000375066.5_Silent_p.L832L|TBC1D2_ENST00000342112.5_Silent_p.L625L|TBC1D2_ENST00000375063.1_Silent_p.L383L	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	843					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TAGATTTCCAGGCCATTCTGT	0.567																																						dbGAP											0													108.0	85.0	93.0					9																	100962587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2527C>T	9.37:g.100962587G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L832	ENST00000375064.1	37	c.2494		9																																																																																			TBC1D2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000095383		0.567	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	55	0.00	0	G	NM_018421		100962587	100962587	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	0.915	A
TBC1D22B	55633	genome.wustl.edu	37	6	37281638	37281638	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:37281638C>T	ENST00000373491.3	+	10	1282	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	379	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGGTGAAGGCACTGGAAGAG	0.473																																						dbGAP											0													208.0	185.0	193.0					6																	37281638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1136C>T	6.37:g.37281638C>T	ENSP00000362590:p.Ala379Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A379V	ENST00000373491.3	37	c.1136	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024622	0.75390	.	.	ENSG00000065491	ENST00000373491	T	0.09817	2.94	5.61	5.61	0.85477	Rab-GAP/TBC domain (5);	0.051537	0.85682	N	0.000000	T	0.11239	0.0274	L	0.52573	1.65	0.80722	D	1	B;B	0.27229	0.172;0.172	B;B	0.39971	0.315;0.315	T	0.06391	-1.0829	10	0.44086	T	0.13	.	18.3963	0.90499	0.0:1.0:0.0:0.0	.	379;379	A8KA28;Q9NU19	.;TB22B_HUMAN	V	379	ENSP00000362590:A379V	ENSP00000362590:A379V	A	+	2	0	TBC1D22B	37389616	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	5.513000	0.67037	2.631000	0.89168	0.655000	0.94253	GCA	TBC1D22B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000065491		0.473	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	170	0.00	0	C	NM_017772		37281638	37281638	+1	no_errors	ENST00000373491	ensembl	human	known	69_37n	missense	166	11.70	22	SNP	1.000	T
TBC1D25	4943	genome.wustl.edu	37	X	48419226	48419226	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:48419226G>A	ENST00000376771.4	+	6	2271	c.1930G>A	c.(1930-1932)Gcc>Acc	p.A644T	TBC1D25_ENST00000537536.1_Missense_Mutation_p.A390T|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	644					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TAATGAGCTGGCCATGCACTT	0.597																																						dbGAP											0													65.0	56.0	59.0					X																	48419226		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1930G>A	X.37:g.48419226G>A	ENSP00000365962:p.Ala644Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A644T	ENST00000376771.4	37	c.1930	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947613	0.73787	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.22539	1.95;1.95	5.05	5.05	0.67936	Rab-GAP/TBC domain (1);	0.313395	0.33591	N	0.004741	T	0.45895	0.1365	M	0.73217	2.22	0.48830	D	0.999714	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.47289	-0.9129	10	0.72032	D	0.01	-14.7687	14.8872	0.70579	0.0:0.0:1.0:0.0	.	648;586;644	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	T	644;390	ENSP00000365962:A644T;ENSP00000444091:A390T	ENSP00000365962:A644T	A	+	1	0	TBC1D25	48304170	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	9.137000	0.94496	2.100000	0.63781	0.436000	0.28706	GCC	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	77	0.00	0	G	NM_002536		48419226	48419226	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	31	44.64	25	SNP	1.000	A
TBC1D4	9882	genome.wustl.edu	37	13	75933922	75933922	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:75933922T>A	ENST00000377636.3	-	3	1499	c.1153A>T	c.(1153-1155)Atc>Ttc	p.I385F	TBC1D4_ENST00000377625.2_Missense_Mutation_p.I385F|TBC1D4_ENST00000431480.2_Missense_Mutation_p.I385F|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	385	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CAAGAGGAGATATCTTTAAAA	0.328																																						dbGAP											0													70.0	69.0	69.0					13																	75933922		1804	4068	5872	-	-	-	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1153A>T	13.37:g.75933922T>A	ENSP00000366863:p.Ile385Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.I385F	ENST00000377636.3	37	c.1153	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789039	0.90367	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.33438	1.41;1.41;1.41	5.8	5.8	0.92144	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.57533	0.2060	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61317	-0.7087	10	0.87932	D	0	-26.9561	16.4401	0.83898	0.0:0.0:0.0:1.0	.	385;385;385	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	F	385	ENSP00000366863:I385F;ENSP00000395986:I385F;ENSP00000366852:I385F	ENSP00000366852:I385F	I	-	1	0	TBC1D4	74831923	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	5.078000	0.64425	2.340000	0.79590	0.528000	0.53228	ATC	TBC1D4	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000136111		0.328	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	103	0.00	0	T	NM_014832		75933922	75933922	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	missense	111	19.42	27	SNP	1.000	A
TBC1D5	9779	genome.wustl.edu	37	3	17469985	17469987	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:17469985_17469987delTTC	ENST00000253692.7	-	4	1786_1788	c.122_124delGAA	c.(121-126)agaaca>aca	p.R41del	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_In_Frame_Del_p.R41del|TBC1D5_ENST00000429383.4_In_Frame_Del_p.R41del	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	41						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GTAGAACTTGTTCTTCTTCCATT	0.296																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.122_124delGAA	3.37:g.17469991_17469993delTTC	ENSP00000253692:p.Arg41del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP25|C9JP52	In_Frame_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R41in_frame_del	ENST00000253692.7	37	c.124_122	CCDS33714.1	3																																																																																			TBC1D5	-	NULL	ENSG00000131374		0.296	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	49	0.00	0	TTC	NM_014744		17469985	17469987	-1	no_errors	ENST00000253692	ensembl	human	known	69_37n	in_frame_del	31	22.50	9	DEL	0.987:1.000:1.000	-
TBC1D5	9779	genome.wustl.edu	37	3	17469996	17469996	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:17469996T>C	ENST00000253692.7	-	4	1777	c.113A>G	c.(112-114)aAt>aGt	p.N38S	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N38S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.N38S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	38						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCTTCTTCCATTTTTATTTGA	0.294																																						dbGAP											0													34.0	38.0	37.0					3																	17469996		2200	4285	6485	-	-	-	SO:0001583	missense	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.113A>G	3.37:g.17469996T>C	ENSP00000253692:p.Asn38Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N38S	ENST00000253692.7	37	c.113	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154663	0.57259	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420	T;T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.71	5.71	0.89125	.	0.474613	0.24130	N	0.041277	T	0.15176	0.0366	L	0.29908	0.895	0.80722	D	1	B;B	0.19445	0.036;0.017	B;B	0.17979	0.02;0.015	T	0.03863	-1.0997	10	0.36615	T	0.2	-14.855	15.6499	0.77084	0.0:0.0:0.0:1.0	.	38;38	C9JP52;Q92609	.;TBCD5_HUMAN	S	38	ENSP00000253692:N38S;ENSP00000398127:N38S;ENSP00000402935:N38S;ENSP00000396239:N38S;ENSP00000387395:N38S;ENSP00000399967:N38S;ENSP00000410596:N38S;ENSP00000393882:N38S;ENSP00000424998:N38S;ENSP00000415379:N38S;ENSP00000414159:N38S	ENSP00000253692:N38S	N	-	2	0	TBC1D5	17445000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.226000	0.65299	2.175000	0.68902	0.477000	0.44152	AAT	TBC1D5	-	NULL	ENSG00000131374		0.294	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	55	0.00	0	T	NM_014744		17469996	17469996	-1	no_errors	ENST00000253692	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	C
TBC1D9B	23061	genome.wustl.edu	37	5	179297324	179297324	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:179297324G>A	ENST00000356834.3	-	16	2693	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62C|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886C|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44C	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAACATGCGCCCTGCCAGC	0.597																																						dbGAP											0													101.0	106.0	104.0					5																	179297324		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2656C>T	5.37:g.179297324G>A	ENSP00000349291:p.Arg886Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.R886C	ENST00000356834.3	37	c.2656	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732208	0.48939	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.93	4.93	0.64822	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;0.996;0.999	T	0.72144	-0.4379	10	0.87932	D	0	-25.2038	13.9476	0.64094	0.0:0.0:0.8476:0.1524	.	62;230;886;886;886;102	B4E3K0;B3KQE0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;.;TBC9B_HUMAN;.	C	886;886;62;44	ENSP00000349291:R886C;ENSP00000347375:R886C;ENSP00000430293:R62C;ENSP00000401585:R44C	ENSP00000347375:R886C	R	-	1	0	TBC1D9B	179229930	1.000000	0.71417	0.937000	0.37676	0.009000	0.06853	6.388000	0.73195	2.283000	0.76528	0.555000	0.69702	CGC	TBC1D9B	-	pfscan_EF_HAND_2	ENSG00000197226		0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	29	0.00	0	G	NM_015043		179297324	179297324	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	missense	7	53.33	8	SNP	0.993	A
TBC1D9B	23061	genome.wustl.edu	37	5	179318453	179318453	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:179318453A>G	ENST00000356834.3	-	6	1007	c.970T>C	c.(970-972)Ttc>Ctc	p.F324L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.F324L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	324	GRAM 2.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGAGATGAACATCTGGCCA	0.602																																						dbGAP											0													141.0	133.0	136.0					5																	179318453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.970T>C	5.37:g.179318453A>G	ENSP00000349291:p.Phe324Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.F324L	ENST00000356834.3	37	c.970	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	A	32	5.113071	0.94339	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	D;D	0.89810	-2.57;-2.57	4.96	4.96	0.65561	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.78637	2.42	0.80722	D	1	P;P;P	0.43231	0.801;0.763;0.593	P;P;P	0.52031	0.688;0.482;0.5	D	0.93160	0.6557	10	0.62326	D	0.03	-24.0004	14.794	0.69865	1.0:0.0:0.0:0.0	.	324;324;324	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	L	324	ENSP00000349291:F324L;ENSP00000347375:F324L	ENSP00000347375:F324L	F	-	1	0	TBC1D9B	179251059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.047000	0.93823	2.089000	0.63090	0.459000	0.35465	TTC	TBC1D9B	-	pfam_GRAM,smart_GRAM	ENSG00000197226		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	55	0.00	0	A	NM_015043		179318453	179318453	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	missense	24	44.19	19	SNP	1.000	G
TBR1	10716	genome.wustl.edu	37	2	162273179	162273180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:162273179_162273180insT	ENST00000389554.3	+	1	575_576	c.258_259insT	c.(259-261)ttgfs	p.L87fs	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	87					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCTCTCCTGTCTTGGACGGGGT	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.260dupT	2.37:g.162273181_162273181dupT	ENSP00000374205:p.Leu87fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Frame_Shift_Ins	INS	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L86fs	ENST00000389554.3	37	c.258_259	CCDS33310.1	2																																																																																			TBR1	-	NULL	ENSG00000136535		0.535	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	161	0.00	0	-	NM_006593		162273179	162273180	+1	no_errors	ENST00000389554	ensembl	human	known	69_37n	frame_shift_ins	81	23.58	25	INS	1.000:1.000	T
TCEA2	6919	genome.wustl.edu	37	20	62703329	62703329	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:62703329C>T	ENST00000343484.5	+	9	1060				RGS19_ENST00000493165.1_5'Flank|TCEA2_ENST00000395053.3_Intron|TCEA2_ENST00000465111.1_Intron|TCEA2_ENST00000361317.2_Intron	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTCCCAGCTCCATTCTCTGG	0.622																																						dbGAP											0													39.0	35.0	37.0					20																	62703329		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.891+35C>T	20.37:g.62703329C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNM1|Q8TD37|Q8TD38	RNA	SNP	-	NULL	ENST00000343484.5	37	NULL	CCDS13553.1	20																																																																																			TCEA2	-	-	ENSG00000171703		0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA2	HGNC	protein_coding	OTTHUMT00000080277.2	33	0.00	0	C	NM_198723		62703329	62703329	+1	no_errors	ENST00000461072	ensembl	human	known	69_37n	rna	12	40.00	8	SNP	0.005	T
TCF20	6942	genome.wustl.edu	37	22	42610948	42610948	+	Frame_Shift_Del	DEL	G	G	-	rs138734341		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:42610948delG	ENST00000359486.3	-	1	500	c.364delC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCCCTGGGGGGGTCCA	0.567																																						dbGAP											0													92.0	97.0	95.0					22																	42610948		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.364delC	22.37:g.42610948delG	ENSP00000352463:p.Gln122fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	smart_Znf_PHD	p.Q122fs	ENST00000359486.3	37	c.364	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	255	0.00	0	G	NM_181492		42610948	42610948	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	frame_shift_del	156	16.92	33	DEL	1.000	-
TCF4	6925	genome.wustl.edu	37	18	52895520	52895520	+	Frame_Shift_Del	DEL	G	G	-	rs148802110		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:52895520delG	ENST00000356073.4	-	19	2551	c.1940delC	c.(1939-1941)cctfs	p.P647fs	TCF4_ENST00000398339.1_Frame_Shift_Del_p.P753fs|TCF4_ENST00000570287.2_Frame_Shift_Del_p.P487fs|TCF4_ENST00000568673.1_Frame_Shift_Del_p.P627fs|TCF4_ENST00000561992.1_Frame_Shift_Del_p.P517fs|TCF4_ENST00000543082.1_Frame_Shift_Del_p.P605fs|TCF4_ENST00000567880.1_Frame_Shift_Del_p.P587fs|TCF4_ENST00000561831.3_Frame_Shift_Del_p.P487fs|TCF4_ENST00000540999.1_Frame_Shift_Del_p.P623fs|TCF4_ENST00000564999.1_Frame_Shift_Del_p.P647fs|TCF4_ENST00000565018.2_Frame_Shift_Del_p.P651fs|TCF4_ENST00000566286.1_Frame_Shift_Del_p.P644fs|TCF4_ENST00000566279.1_Frame_Shift_Del_p.P591fs|TCF4_ENST00000354452.3_Frame_Shift_Del_p.P651fs|TCF4_ENST00000564403.2_Frame_Shift_Del_p.P657fs|TCF4_ENST00000544241.2_Frame_Shift_Del_p.P580fs|TCF4_ENST00000457482.3_Frame_Shift_Del_p.P491fs|TCF4_ENST00000537578.1_Frame_Shift_Del_p.P627fs|TCF4_ENST00000568740.1_Frame_Shift_Del_p.P622fs|TCF4_ENST00000537856.3_Frame_Shift_Del_p.P517fs|TCF4_ENST00000564228.1_Frame_Shift_Del_p.P576fs|TCF4_ENST00000570177.2_Frame_Shift_Del_p.P517fs	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	647					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.P753L(1)|p.P647L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAAGGAGAGAGGGGGAGGCTC	0.502																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											121.0	109.0	113.0					18																	52895520		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1940delC	18.37:g.52895520delG	ENSP00000348374:p.Pro647fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Frame_Shift_Del	DEL	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P753fs	ENST00000356073.4	37	c.2258	CCDS11960.1	18																																																																																			TCF4	-	superfamily_HLH_DNA-bd	ENSG00000196628		0.502	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	80	0.00	0	G	NM_003199		52895520	52895520	-1	no_errors	ENST00000398339	ensembl	human	known	69_37n	frame_shift_del	52	43.48	40	DEL	1.000	-
TDG	6996	genome.wustl.edu	37	12	104380669	104380669	+	Intron	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:104380669delA	ENST00000392872.3	+	10	1324				TDG_ENST00000544861.1_Intron|TDG_ENST00000542036.1_Intron|TDG_ENST00000266775.9_Intron|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000536395.1_3'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		tctcTACTTTAAAAAAAGCAA	0.438								Base excision repair (BER), DNA glycosylases																														dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1091-57A>-	12.37:g.104380669delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUZ6|Q8IZM3	RNA	DEL	-	NULL	ENST00000392872.3	37	NULL	CCDS9095.1	12																																																																																			TDG	-	-	ENSG00000139372		0.438	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	HGNC	protein_coding	OTTHUMT00000399673.2	112	0.00	0	A			104380669	104380669	+1	no_errors	ENST00000536395	ensembl	human	putative	69_37n	rna	108	12.80	16	DEL	0.009	-
TDRD6	221400	genome.wustl.edu	37	6	46658264	46658265	+	Frame_Shift_Del	DEL	CT	CT	-	rs375428009		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:46658264_46658265delCT	ENST00000316081.6	+	1	2399_2400	c.2399_2400delCT	c.(2398-2400)actfs	p.T800fs	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Frame_Shift_Del_p.T800fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	800					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGACTTAAAACTCTAATGTCTG	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2399_2400delCT	6.37:g.46658266_46658267delCT	ENSP00000346065:p.Thr800fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Del	DEL	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L801fs	ENST00000316081.6	37	c.2399_2400	CCDS34470.1	6																																																																																			TDRD6	-	pfam_Tudor	ENSG00000180113		0.426	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	112	0.00	0	CT	XM_166443		46658264	46658265	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	frame_shift_del	72	17.05	15	DEL	0.000:0.000	-
TDRD7	23424	genome.wustl.edu	37	9	100242710	100242711	+	Intron	DEL	TT	TT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100242710_100242711delTT	ENST00000355295.4	+	14	2596				TDRD7_ENST00000540902.1_Intron|TDRD7_ENST00000422139.2_Intron|TDRD7_ENST00000492428.1_3'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7						germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGACAATTGATTTTTTTTTTTT	0.391																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2302-399TT>-	9.37:g.100242720_100242721delTT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	RNA	DEL	-	NULL	ENST00000355295.4	37	NULL	CCDS6725.1	9																																																																																			TDRD7	-	-	ENSG00000196116		0.391	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	9	0.00	0	TT	NM_014290		100242710	100242711	+1	no_errors	ENST00000492428	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.001:0.001	-
TEAD2	8463	genome.wustl.edu	37	19	49850473	49850473	+	Frame_Shift_Del	DEL	G	G	-	rs568692724		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:49850473delG	ENST00000311227.2	-	9	973	c.883delC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000601519.1_Frame_Shift_Del_p.H298fs|TEAD2_ENST00000377214.4_Frame_Shift_Del_p.H298fs|TEAD2_ENST00000593945.1_Frame_Shift_Del_p.H299fs|TEAD2_ENST00000598810.1_Frame_Shift_Del_p.H299fs|TEAD2_ENST00000539846.1_Frame_Shift_Del_p.H167fs|TEAD2_ENST00000598397.1_5'Flank	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		AAGAAGGCATGGGGGGGGCCA	0.567																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											127.0	140.0	135.0					19																	49850473		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.883delC	19.37:g.49850473delG	ENSP00000310701:p.His295fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Del	DEL	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.H298fs	ENST00000311227.2	37	c.892	CCDS12761.1	19																																																																																			TEAD2	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000074219		0.567	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1	111	0.88	1	G	NM_003598		49850473	49850473	-1	no_errors	ENST00000377214	ensembl	human	known	69_37n	frame_shift_del	79	25.45	28	DEL	0.961	-
TECTA	7007	genome.wustl.edu	37	11	121023639	121023639	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:121023639C>T	ENST00000392793.1	+	13	4426	c.4155C>T	c.(4153-4155)tgC>tgT	p.C1385C	TECTA_ENST00000264037.2_Silent_p.C1385C			O75443	TECTA_HUMAN	tectorin alpha	1385	TIL 3.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGAGTGTCTGCCAGCCCCGCT	0.607																																						dbGAP											0													55.0	52.0	53.0					11																	121023639		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4155C>T	11.37:g.121023639C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.C1385	ENST00000392793.1	37	c.4155	CCDS8434.1	11																																																																																			TECTA	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000109927		0.607	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	69	0.00	0	C	NM_005422		121023639	121023639	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	silent	39	36.07	22	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27185545	27185545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:27185545delC	ENST00000380036.4	+	9	1687	c.1245delC	c.(1243-1245)ctcfs	p.L415fs	TEK_ENST00000519097.1_Frame_Shift_Del_p.L268fs|TEK_ENST00000406359.4_Frame_Shift_Del_p.L372fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	415	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACCGGATCCTCCCCCCTGACT	0.433																																						dbGAP											0													142.0	135.0	137.0					9																	27185545		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1245delC	9.37:g.27185545delC	ENSP00000369375:p.Leu415fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P417fs	ENST00000380036.4	37	c.1245	CCDS6519.1	9																																																																																			TEK	-	pfscan_Ig-like	ENSG00000120156		0.433	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	192	0.00	0	C			27185545	27185545	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	frame_shift_del	122	17.53	27	DEL	0.001	-
TFDP2	7029	genome.wustl.edu	37	3	141678557	141678557	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:141678557G>A	ENST00000489671.1	-	11	1440	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TFDP2_ENST00000486111.1_Missense_Mutation_p.A277V|TFDP2_ENST00000499676.2_Missense_Mutation_p.A277V|TFDP2_ENST00000479040.1_Missense_Mutation_p.A276V|TFDP2_ENST00000310282.6_Missense_Mutation_p.A277V|TFDP2_ENST00000397991.4_Missense_Mutation_p.A309V|TFDP2_ENST00000495310.1_Missense_Mutation_p.A240V|TFDP2_ENST00000467072.1_Missense_Mutation_p.A277V|TFDP2_ENST00000317104.7_Missense_Mutation_p.A261V|TFDP2_ENST00000477292.1_Missense_Mutation_p.A201V			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	337					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A337V(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGGGATTTCGCAAGTTTCAG	0.423																																						dbGAP											1	Substitution - Missense(1)	lung(1)											149.0	156.0	153.0					3																	141678557		2002	4176	6178	-	-	-	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1010C>T	3.37:g.141678557G>A	ENSP00000420616:p.Ala337Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.A337V	ENST00000489671.1	37	c.1010	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989771	0.93106	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.52526	1.64;1.56;1.64;0.7;0.66;1.64;1.67;1.64;1.64;1.6	5.16	5.16	0.70880	Transcription factor DP, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.67692	0.2920	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	B;D;D	0.87578	0.44;0.998;0.991	T	0.64364	-0.6425	10	0.35671	T	0.21	-5.5606	18.8432	0.92192	0.0:0.0:1.0:0.0	.	240;337;277	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	V	277;337;277;201;240;277;261;277;276;309	ENSP00000439782:A277V;ENSP00000420616:A337V;ENSP00000420599:A277V;ENSP00000418971:A201V;ENSP00000419036:A240V;ENSP00000418590:A277V;ENSP00000315668:A261V;ENSP00000309622:A277V;ENSP00000417585:A276V;ENSP00000381078:A309V	ENSP00000309622:A277V	A	-	2	0	TFDP2	143161247	1.000000	0.71417	0.139000	0.22197	0.952000	0.60782	9.062000	0.93920	2.687000	0.91594	0.462000	0.41574	GCG	TFDP2	-	pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr	ENSG00000114126		0.423	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	219	0.00	0	G	NM_006286		141678557	141678557	-1	no_errors	ENST00000489671	ensembl	human	known	69_37n	missense	218	17.11	45	SNP	1.000	A
TG	7038	genome.wustl.edu	37	8	133984896	133984898	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:133984896_133984898delGAG	ENST00000220616.4	+	34	6149_6151	c.6109_6111delGAG	c.(6109-6111)gagdel	p.E2038del	TG_ENST00000377869.1_In_Frame_Del_p.E1981del|TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_In_Frame_Del_p.E408del|TG_ENST00000519543.1_In_Frame_Del_p.E192del	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2038					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E2037K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATGTGCAGTGAGGAGAATGGAG	0.483																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6109_6111delGAG	8.37:g.133984899_133984901delGAG	ENSP00000220616:p.Glu2038del	Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	In_Frame_Del	DEL	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E2038in_frame_del	ENST00000220616.4	37	c.6109_6111	CCDS34944.1	8																																																																																			TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.483	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	154	0.00	0	GAG	NM_003235		133984896	133984898	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	in_frame_del	113	26.62	41	DEL	0.996:0.998:0.988	-
TGFBR3	7049	genome.wustl.edu	37	1	92185763	92185763	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:92185763A>G	ENST00000525962.1	-	8	1161	c.1100T>C	c.(1099-1101)gTc>gCc	p.V367A	TGFBR3_ENST00000370399.2_Missense_Mutation_p.V366A|TGFBR3_ENST00000212355.4_Missense_Mutation_p.V367A			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	367					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AATAGTGTGGACTTCCTCATC	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1100T>C	1.37:g.92185763A>G	ENSP00000436127:p.Val367Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.V367A	ENST00000525962.1	37	c.1100	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.131142	0.37630	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.29917	1.57;1.55;1.57;1.55	5.62	2.94	0.34122	.	0.625223	0.16417	N	0.215323	T	0.09468	0.0233	L	0.44542	1.39	0.29647	N	0.844298	B;B;B	0.30605	0.224;0.287;0.224	B;B;B	0.28011	0.055;0.085;0.055	T	0.19647	-1.0299	10	0.19147	T	0.46	-8.8937	9.3922	0.38381	0.4446:0.0:0.0:0.5553	.	367;366;367	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	A	367;366;367;366	ENSP00000212355:V367A;ENSP00000359426:V366A;ENSP00000436127:V367A;ENSP00000432638:V366A	ENSP00000212355:V367A	V	-	2	0	TGFBR3	91958351	0.995000	0.38212	1.000000	0.80357	0.887000	0.51463	1.918000	0.40006	1.032000	0.39892	0.533000	0.62120	GTC	TGFBR3	-	NULL	ENSG00000069702		0.567	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	71	0.00	0	A	NM_003243		92185763	92185763	-1	no_errors	ENST00000212355	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	1.000	G
TGM6	343641	genome.wustl.edu	37	20	2378600	2378600	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:2378600C>T	ENST00000202625.2	+	5	641	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	TGM6_ENST00000381423.1_Silent_p.L194L|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	194					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTCTCCATCCTGGATCGAAG	0.587																																						dbGAP											0													146.0	108.0	121.0					20																	2378600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.580C>T	20.37:g.2378600C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L194	ENST00000202625.2	37	c.580	CCDS13025.1	20																																																																																			TGM6	-	NULL	ENSG00000166948		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	114	0.00	0	C	NM_198994		2378600	2378600	+1	no_errors	ENST00000202625	ensembl	human	known	69_37n	silent	59	41.00	41	SNP	1.000	T
THBD	7056	genome.wustl.edu	37	20	23029049	23029049	+	Missense_Mutation	SNP	G	G	T	rs370629537		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:23029049G>T	ENST00000377103.2	-	1	1329	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	365	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GGGTCCACGGGCTCCACACAC	0.637																																						dbGAP											0													73.0	61.0	65.0					20																	23029049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1093C>A	20.37:g.23029049G>T	ENSP00000366307:p.Pro365Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,prints_Thrombomodulin,pfscan_C-type_lectin	p.P365T	ENST00000377103.2	37	c.1093	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	2.550	-0.304242	0.05495	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.87029	-2.2	4.42	-0.616	0.11583	Epidermal growth factor-like, type 3 (1);	1.552440	0.04786	U	0.430669	T	0.80560	0.4646	L	0.57536	1.79	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.55062	-0.8199	10	0.13853	T	0.58	-1.7722	1.2376	0.01956	0.179:0.142:0.3872:0.2918	.	365	P07204	TRBM_HUMAN	T	365;347	ENSP00000366307:P365T	ENSP00000366307:P365T	P	-	1	0	THBD	22977049	0.000000	0.05858	0.074000	0.20217	0.918000	0.54935	-0.212000	0.09319	-0.052000	0.13311	-0.305000	0.09177	CCC	THBD	-	pirsf_CD93/CD141,smart_EGF-like_Ca-bd,prints_Thrombomodulin	ENSG00000178726		0.637	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	21	0.00	0	G			23029049	23029049	-1	no_errors	ENST00000377103	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	0.065	T
TGIF2	60436	genome.wustl.edu	37	20	35219312	35219312	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:35219312G>T	ENST00000373874.2	+	3	391		c.e3-1		RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Splice_Site|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2						gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ATTCATTCCAGATATGTAACT	0.502																																						dbGAP											0													137.0	153.0	148.0					20																	35219312		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.193-1G>T	20.37:g.35219312G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9U3|E1P5T9|H0YNI0	Splice_Site	SNP	-	e2-1	ENST00000373874.2	37	c.193-1	CCDS13278.1	20	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736257	0.69189	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	.	.	.	5.61	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3415	0.60547	0.0756:0.0:0.9244:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGIF2	34652726	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.414000	0.97362	1.366000	0.46076	0.561000	0.74099	.	TGIF2	-	-	ENSG00000118707		0.502	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2	HGNC	protein_coding	OTTHUMT00000079004.2	158	0.00	0	G	NM_021809	Intron	35219312	35219312	+1	no_errors	ENST00000373872	ensembl	human	known	69_37n	splice_site	140	12.50	20	SNP	1.000	T
THBS1	7057	genome.wustl.edu	37	15	39885831	39885831	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:39885831C>T	ENST00000260356.5	+	19	3394	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1077	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.R1077W(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CGAGCACCTGCGGAACGCCCT	0.592																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											100.0	102.0	101.0					15																	39885831		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3229C>T	15.37:g.39885831C>T	ENSP00000260356:p.Arg1077Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R1077W	ENST00000260356.5	37	c.3229	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818997	0.71028	.	.	ENSG00000137801	ENST00000260356	D	0.96491	-4.03	5.77	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.32952	N	0.005448	D	0.98191	0.9402	M	0.87971	2.92	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99525	1.0959	10	0.87932	D	0	-23.6932	16.2477	0.82454	0.2532:0.7468:0.0:0.0	.	992;1077	B4E3J7;P07996	.;TSP1_HUMAN	W	1077	ENSP00000260356:R1077W	ENSP00000260356:R1077W	R	+	1	2	THBS1	37673123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.682000	0.46934	1.390000	0.46547	0.655000	0.94253	CGG	THBS1	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl	ENSG00000137801		0.592	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	157	0.00	0	C	NM_003246		39885831	39885831	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	missense	84	28.81	34	SNP	1.000	T
THNSL2	55258	genome.wustl.edu	37	2	88482314	88482315	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:88482314_88482315delTC	ENST00000324166.5	+	5	2590_2591	c.899_900delTC	c.(898-900)ttcfs	p.F300fs	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000402102.1_Frame_Shift_Del_p.F300fs|THNSL2_ENST00000358591.2_Frame_Shift_Del_p.F300fs|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Frame_Shift_Del_p.F300fs|THNSL2_ENST00000343544.4_Frame_Shift_Del_p.F300fs	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	300					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CAGGGAGACTTCTCTCTCTCTG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.899_900delTC	2.37:g.88482322_88482323delTC	ENSP00000327323:p.Phe300fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase	p.S303fs	ENST00000324166.5	37	c.899_900	CCDS2002.2	2																																																																																			THNSL2	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase	ENSG00000144115		0.545	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	58	0.00	0	TC	NM_018271		88482314	88482315	+1	no_errors	ENST00000324166	ensembl	human	known	69_37n	frame_shift_del	48	18.64	11	DEL	1.000:1.000	-
THPO	7066	genome.wustl.edu	37	3	184090882	184090882	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:184090882G>A	ENST00000204615.7	-	6	695	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	THPO_ENST00000477594.1_Intron|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.R157C|THPO_ENST00000421442.2_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	161					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGGAAACGCACCTTTCCT	0.597																																						dbGAP											0													77.0	77.0	77.0					3																	184090882		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.481C>T	3.37:g.184090882G>A	ENSP00000204615:p.Arg161Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.R161C	ENST00000204615.7	37	c.481	CCDS3265.1	3	.	.	.	.	.	.	.	.	.	.	g	19.45	3.829420	0.71258	.	.	ENSG00000090534	ENST00000204615;ENST00000445696	T;T	0.44083	0.93;0.93	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.51477	D	0.000097	T	0.51126	0.1656	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.54364	-0.8305	10	0.87932	D	0	-49.6991	12.7188	0.57129	0.0:0.0:1.0:0.0	.	157;161	P40225-2;P40225	.;TPO_HUMAN	C	161;157	ENSP00000204615:R161C;ENSP00000410763:R157C	ENSP00000204615:R161C	R	-	1	0	THPO	185573576	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.796000	0.55507	2.358000	0.79984	0.454000	0.30748	CGT	THPO	-	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core	ENSG00000090534		0.597	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	85	0.00	0	G	NM_000460		184090882	184090882	-1	no_errors	ENST00000204615	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	1.000	A
TIMP3	7078	genome.wustl.edu	37	22	33245470	33245470	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:33245470G>A	ENST00000266085.6	+	2	454	c.153G>A	c.(151-153)ctG>ctA	p.L51L	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	51	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GGAAGAAGCTGGTAAAGGAGG	0.542																																						dbGAP											0													96.0	78.0	84.0					22																	33245470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.153G>A	22.37:g.33245470G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.L51	ENST00000266085.6	37	c.153	CCDS13911.1	22																																																																																			TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.542	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	21	0.00	0	G	NM_000362		33245470	33245470	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	1.000	A
TIPARP	25976	genome.wustl.edu	37	3	156395578	156395580	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:156395578_156395580delAGA	ENST00000461166.1	+	2	680_682	c.92_94delAGA	c.(91-96)gagaag>gag	p.K32del	TIPARP_ENST00000486483.1_In_Frame_Del_p.K32del|TIPARP_ENST00000295924.7_In_Frame_Del_p.K32del|TIPARP_ENST00000542783.1_In_Frame_Del_p.K32del	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	32					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACTCTCTGAGAAGATCACTCC	0.433																																					Ovarian(171;276 1987 3319 6837 11197)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.92_94delAGA	3.37:g.156395581_156395583delAGA	ENSP00000420612:p.Lys32del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	In_Frame_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K32in_frame_del	ENST00000461166.1	37	c.92_94	CCDS3177.1	3																																																																																			TIPARP	-	NULL	ENSG00000163659		0.433	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TIPARP	HGNC	protein_coding	OTTHUMT00000351618.1	96	0.00	0	AGA	NM_015508		156395578	156395580	+1	no_errors	ENST00000295924	ensembl	human	known	69_37n	in_frame_del	51	35.44	28	DEL	1.000:1.000:1.000	-
TJAP1	93643	genome.wustl.edu	37	6	43472634	43472634	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:43472634C>T	ENST00000372445.5	+	11	1091	c.715C>T	c.(715-717)Ccg>Tcg	p.P239S	TJAP1_ENST00000372452.1_Missense_Mutation_p.P229S|TJAP1_ENST00000372449.1_Missense_Mutation_p.P239S|TJAP1_ENST00000259751.1_Missense_Mutation_p.P229S|TJAP1_ENST00000438588.2_Missense_Mutation_p.P239S|TJAP1_ENST00000372444.2_Missense_Mutation_p.P229S|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Missense_Mutation_p.P229S	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	239					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.P229S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTTAGAGAAGCCGGAGTCTCT	0.617																																						dbGAP											1	Substitution - Missense(1)	lung(1)											98.0	99.0	99.0					6																	43472634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.715C>T	6.37:g.43472634C>T	ENSP00000361522:p.Pro239Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.P239S	ENST00000372445.5	37	c.715	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238054	0.79800	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.39	4.52	0.55395	.	0.048718	0.85682	N	0.000000	T	0.52789	0.1756	M	0.66939	2.045	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.60173	0.87;0.87	T	0.59558	-0.7432	10	0.62326	D	0.03	-15.4048	13.8222	0.63329	0.0:0.9261:0.0:0.0739	.	239;229	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	S	229;239;229;229;229;229;239;239	ENSP00000361521:P229S;ENSP00000361522:P239S;ENSP00000407080:P229S;ENSP00000259751:P229S;ENSP00000361530:P229S;ENSP00000361527:P239S;ENSP00000408769:P239S	ENSP00000259751:P229S	P	+	1	0	TJAP1	43580612	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	7.472000	0.80996	1.252000	0.44001	0.561000	0.74099	CCG	TJAP1	-	NULL	ENSG00000137221		0.617	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	110	0.00	0	C	NM_080604		43472634	43472634	+1	no_errors	ENST00000372445	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120476789	120476789	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:120476789C>T	ENST00000355622.6	+	3	2484	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L755L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	795	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L795M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAACACTTACCTGGAGTGGGA	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	86.0	86.0					9																	120476789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2383C>T	9.37:g.120476789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L795	ENST00000355622.6	37	c.2383	CCDS6818.1	9																																																																																			TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.552	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	110	0.00	0	C	NM_138554		120476789	120476789	+1	no_errors	ENST00000355622	ensembl	human	known	69_37n	silent	83	20.95	22	SNP	1.000	T
TLR8	51311	genome.wustl.edu	37	X	12939570	12939570	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:12939570C>T	ENST00000218032.6	+	2	2498	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	TLR8_ENST00000311912.5_Missense_Mutation_p.A822V	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	804	LRRCT.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTCATTTGTGCCAGTCCTGGG	0.423																																						dbGAP											0													121.0	101.0	107.0					X																	12939570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2411C>T	X.37:g.12939570C>T	ENSP00000218032:p.Ala804Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.A804V	ENST00000218032.6	37	c.2411	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322195	0.23994	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.34667	1.35;1.54	5.97	4.16	0.48862	Cysteine-rich flanking region, C-terminal (1);	0.629655	0.13152	N	0.409835	T	0.43656	0.1257	M	0.67700	2.07	0.09310	N	1	P;P	0.48294	0.908;0.908	P;P	0.46585	0.521;0.521	T	0.20940	-1.0260	10	0.34782	T	0.22	.	12.4519	0.55681	0.1331:0.7421:0.1248:0.0	.	804;822	Q9NR97;D1CS70	TLR8_HUMAN;.	V	804;822	ENSP00000218032:A804V;ENSP00000312082:A822V	ENSP00000218032:A804V	A	+	2	0	TLR8	12849491	0.000000	0.05858	0.265000	0.24526	0.244000	0.25665	0.569000	0.23638	0.626000	0.30322	0.600000	0.82982	GCC	TLR8	-	smart_Cys-rich_flank_reg_C	ENSG00000101916		0.423	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	276	0.00	0	C	NM_016610		12939570	12939570	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	168	28.51	67	SNP	0.034	T
TMEM100	55273	genome.wustl.edu	37	17	53798167	53798167	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:53798167C>T	ENST00000575734.1	-	4	1073	c.265G>A	c.(265-267)Ggc>Agc	p.G89S	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.G89S	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	89					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						ACAACCAGGCCAAAGATGGAG	0.507																																						dbGAP											0													88.0	89.0	89.0					17																	53798167		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.265G>A	17.37:g.53798167C>T	ENSP00000465638:p.Gly89Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	NULL	p.G89S	ENST00000575734.1	37	c.265	CCDS11587.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.381628	0.95967	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	5.53	0.82687	.	0.097921	0.64402	D	0.000001	T	0.76040	0.3932	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73830	-0.3859	9	0.39692	T	0.17	.	18.4525	0.90709	0.0:1.0:0.0:0.0	.	89	Q9NV29	TM100_HUMAN	S	89	.	ENSP00000299377:G89S	G	-	1	0	TMEM100	51153166	1.000000	0.71417	0.961000	0.40146	0.997000	0.91878	7.462000	0.80851	2.593000	0.87608	0.655000	0.94253	GGC	TMEM100	-	NULL	ENSG00000166292		0.507	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM100	HGNC	protein_coding	OTTHUMT00000439266.2	301	0.00	0	C	NM_018286		53798167	53798167	-1	no_errors	ENST00000424486	ensembl	human	known	69_37n	missense	257	18.61	59	SNP	1.000	T
TMEM132B	114795	genome.wustl.edu	37	12	125834236	125834236	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:125834236delC	ENST00000299308.3	+	2	299	c.291delC	c.(289-291)atcfs	p.I97fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	97						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGAAGATAATCCCCCAGGAGC	0.498																																						dbGAP											0													108.0	106.0	107.0					12																	125834236		1880	4106	5986	-	-	-	SO:0001589	frameshift_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.291delC	12.37:g.125834236delC	ENSP00000299308:p.Ile97fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Frame_Shift_Del	DEL	NULL	p.Q99fs	ENST00000299308.3	37	c.291	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.498	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	279	0.00	0	C	NM_052907		125834236	125834236	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	frame_shift_del	236	16.67	48	DEL	0.287	-
TMEM132E	124842	genome.wustl.edu	37	17	32957153	32957153	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:32957153A>G	ENST00000321639.5	+	6	1523	c.1195A>G	c.(1195-1197)Aat>Gat	p.N399D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	399						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGAGTCTGACAATGAAGACAT	0.582																																						dbGAP											0													90.0	68.0	75.0					17																	32957153		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1195A>G	17.37:g.32957153A>G	ENSP00000316532:p.Asn399Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.N399D	ENST00000321639.5	37	c.1195	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	A	6.593	0.477720	0.12521	.	.	ENSG00000181291	ENST00000321639	T	0.15017	2.46	4.99	4.99	0.66335	.	0.236464	0.47852	D	0.000220	T	0.09379	0.0231	N	0.13327	0.33	0.52501	D	0.999959	B	0.10296	0.003	B	0.14023	0.01	T	0.06917	-1.0800	10	0.02654	T	1	-9.8969	14.3175	0.66463	1.0:0.0:0.0:0.0	.	399	Q6IEE7	T132E_HUMAN	D	399	ENSP00000316532:N399D	ENSP00000316532:N399D	N	+	1	0	TMEM132E	29981266	1.000000	0.71417	0.980000	0.43619	0.965000	0.64279	5.188000	0.65093	2.225000	0.72522	0.523000	0.50628	AAT	TMEM132E	-	NULL	ENSG00000181291		0.582	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	48	0.00	0	A	NM_207313		32957153	32957153	+1	no_errors	ENST00000321639	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	G
TMEM147	10430	genome.wustl.edu	37	19	36038064	36038064	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:36038064G>A	ENST00000222284.5	+	6	618	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TMEM147_ENST00000392204.2_Missense_Mutation_p.R109H|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.R158H|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	158						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGATAACACGCTATGATCTG	0.567																																						dbGAP											0													153.0	135.0	141.0					19																	36038064		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.473G>A	19.37:g.36038064G>A	ENSP00000222284:p.Arg158His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWW0|O75790	Missense_Mutation	SNP	pfam_DUF2053_membrane	p.R158H	ENST00000222284.5	37	c.473	CCDS12466.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.165724	0.94768	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.56776	0.44;0.44;0.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81756	-0.0787	10	0.87932	D	0	.	17.1814	0.86856	0.0:0.0:1.0:0.0	.	109;158	A8MWW0;Q9BVK8	.;TM147_HUMAN	H	109;158;158	ENSP00000376040:R109H;ENSP00000222284:R158H;ENSP00000376041:R158H	ENSP00000222284:R158H	R	+	2	0	TMEM147	40729904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.839000	0.75364	2.659000	0.90383	0.655000	0.94253	CGC	TMEM147	-	pfam_DUF2053_membrane	ENSG00000105677		0.567	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM147	HGNC	protein_coding	OTTHUMT00000109469.2	55	0.00	0	G	NM_032635		36038064	36038064	+1	no_errors	ENST00000222284	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	1.000	A
TMEM145	284339	genome.wustl.edu	37	19	42819357	42819357	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:42819357G>A	ENST00000301204.3	+	7	564	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	TMEM145_ENST00000598766.1_Missense_Mutation_p.V199M	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	175					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGAGACAGATGTGACcttcct	0.542																																						dbGAP											0													200.0	166.0	177.0					19																	42819357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.523G>A	19.37:g.42819357G>A	ENSP00000301204:p.Val175Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.V175M	ENST00000301204.3	37	c.523	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464553	0.26335	.	.	ENSG00000167619	ENST00000301204	T	0.44083	0.93	4.03	2.97	0.34412	Rhodopsin-like GPCR transmembrane domain (1);	0.208569	0.33199	N	0.005168	T	0.22044	0.0531	N	0.14661	0.345	0.34353	D	0.690075	P	0.44946	0.846	B	0.41860	0.368	T	0.21314	-1.0249	10	0.10111	T	0.7	-8.0886	8.3394	0.32235	0.1162:0.0:0.8838:0.0	.	175	Q8NBT3	TM145_HUMAN	M	175	ENSP00000301204:V175M	ENSP00000301204:V175M	V	+	1	0	TMEM145	47511197	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.109000	0.31135	0.795000	0.33922	0.455000	0.32223	GTG	TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain	ENSG00000167619		0.542	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	160	0.00	0	G	NM_173633		42819357	42819357	+1	no_errors	ENST00000301204	ensembl	human	known	69_37n	missense	109	18.66	25	SNP	1.000	A
TMEM171	134285	genome.wustl.edu	37	5	72419566	72419566	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:72419566C>T	ENST00000454765.2	+	2	839	c.366C>T	c.(364-366)agC>agT	p.S122S	TMEM171_ENST00000287773.5_Silent_p.S122S			Q8WVE6	TM171_HUMAN	transmembrane protein 171	122						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTGACAAGCGGCATGCTCA	0.587																																					NSCLC(112;638 2280 27369 30736)	dbGAP											0													123.0	125.0	124.0					5																	72419566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.366C>T	5.37:g.72419566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0S1|Q8TDT7	Silent	SNP	NULL	p.S122	ENST00000454765.2	37	c.366	CCDS4017.1	5																																																																																			TMEM171	-	NULL	ENSG00000157111		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM171	HGNC	protein_coding	OTTHUMT00000254037.2	75	0.00	0	C	NM_173490		72419566	72419566	+1	no_errors	ENST00000454765	ensembl	human	known	69_37n	silent	44	13.73	7	SNP	0.837	T
TMEM174	134288	genome.wustl.edu	37	5	72469364	72469364	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:72469364C>T	ENST00000296776.5	+	1	343	c.294C>T	c.(292-294)tgC>tgT	p.C98C	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	98						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGCTCTCCTGCCAGTTGTGCA	0.522																																						dbGAP											0													88.0	90.0	90.0					5																	72469364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.294C>T	5.37:g.72469364C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA0|Q96N81	Silent	SNP	NULL	p.C98	ENST00000296776.5	37	c.294	CCDS4018.1	5																																																																																			TMEM174	-	NULL	ENSG00000164325		0.522	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM174	HGNC	protein_coding	OTTHUMT00000254036.1	173	0.00	0	C	NM_153217		72469364	72469364	+1	no_errors	ENST00000296776	ensembl	human	known	69_37n	silent	79	26.17	28	SNP	0.997	T
TMEM173	340061	genome.wustl.edu	37	5	138857986	138857986	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:138857986C>T	ENST00000330794.4	-	6	961	c.628G>A	c.(628-630)Gat>Aat	p.D210N	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	210	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAGGTTATCAGGCACCCCA	0.542																																						dbGAP											0													149.0	137.0	141.0					5																	138857986		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.628G>A	5.37:g.138857986C>T	ENSP00000331288:p.Asp210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	NULL	p.D210N	ENST00000330794.4	37	c.628	CCDS4215.1	5	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894755	0.72639	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.24350	1.86;1.86	5.79	5.79	0.91817	.	0.130740	0.51477	D	0.000085	T	0.45175	0.1329	M	0.73598	2.24	0.42181	D	0.991683	P	0.50528	0.936	P	0.53401	0.725	T	0.40421	-0.9564	10	0.59425	D	0.04	-22.0919	16.7404	0.85457	0.0:1.0:0.0:0.0	.	210	Q86WV6	TM173_HUMAN	N	210	ENSP00000331288:D210N;ENSP00000427455:D210N	ENSP00000331288:D210N	D	-	1	0	TMEM173	138838170	0.998000	0.40836	0.997000	0.53966	0.422000	0.31414	2.111000	0.41883	2.735000	0.93741	0.561000	0.74099	GAT	TMEM173	-	NULL	ENSG00000184584		0.542	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM173	HGNC	protein_coding	OTTHUMT00000251338.1	183	0.00	0	C	NM_198282		138857986	138857986	-1	no_errors	ENST00000330794	ensembl	human	known	69_37n	missense	80	53.18	92	SNP	1.000	T
TMEM39A	55254	genome.wustl.edu	37	3	119176962	119176962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:119176962delA	ENST00000319172.5	-	3	659	c.239delT	c.(238-240)ttcfs	p.F80fs	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	80						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CAGGTAGATGAAAAAAAGGAA	0.428																																						dbGAP											0													144.0	145.0	145.0					3																	119176962		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.239delT	3.37:g.119176962delA	ENSP00000326063:p.Phe80fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN80|Q53FN4|Q53GI1|Q6PKB5	Frame_Shift_Del	DEL	pfam_Uncharacterised_TMEM39	p.F80fs	ENST00000319172.5	37	c.239	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.428	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3	98	0.00	0	A	NM_018266		119176962	119176962	-1	no_errors	ENST00000319172	ensembl	human	known	69_37n	frame_shift_del	101	11.97	14	DEL	1.000	-
TMEM54	113452	genome.wustl.edu	37	1	33363729	33363729	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:33363729C>T	ENST00000373463.3	-	2	327	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	TMEM54_ENST00000329151.5_Missense_Mutation_p.V70M|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	70						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCATACCACGATGGCGGAA	0.617																																						dbGAP											0													87.0	66.0	73.0					1																	33363729		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.208G>A	1.37:g.33363729C>T	ENSP00000362562:p.Val70Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UV18|Q8IVD0|Q9UM12	Missense_Mutation	SNP	pfam_Beta-casein-like	p.V70M	ENST00000373463.3	37	c.208	CCDS371.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602000	0.28534	.	.	ENSG00000121900	ENST00000373463;ENST00000329151	T;T	0.46819	0.86;0.86	5.26	1.79	0.24919	.	0.376195	0.28877	N	0.013846	T	0.43077	0.1231	L	0.38531	1.155	0.21473	N	0.999671	B;D;B	0.63046	0.145;0.992;0.175	B;P;B	0.51582	0.032;0.674;0.054	T	0.24368	-1.0162	10	0.52906	T	0.07	.	8.1196	0.30963	0.5161:0.3612:0.1227:0.0	.	70;70;70	Q969K7-2;Q969K7-3;Q969K7	.;.;TMM54_HUMAN	M	70	ENSP00000362562:V70M;ENSP00000328630:V70M	ENSP00000328630:V70M	V	-	1	0	TMEM54	33136316	0.001000	0.12720	0.983000	0.44433	0.435000	0.31806	-0.457000	0.06745	0.678000	0.31325	0.655000	0.94253	GTG	TMEM54	-	pfam_Beta-casein-like	ENSG00000121900		0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM54	HGNC	protein_coding	OTTHUMT00000011474.1	67	0.00	0	C	NM_033504		33363729	33363729	-1	no_errors	ENST00000373463	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	T
TMEM74	157753	genome.wustl.edu	37	8	109796918	109796918	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:109796918C>T	ENST00000297459.3	-	2	588	c.410G>A	c.(409-411)gGg>gAg	p.G137E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	137					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCCAAGCTCCCCAGGGTGATT	0.473																																						dbGAP											0													74.0	79.0	78.0					8																	109796918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.410G>A	8.37:g.109796918C>T	ENSP00000297459:p.Gly137Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G137E	ENST00000297459.3	37	c.410	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	C	5.422	0.263098	0.10294	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	2.12	0.27331	.	0.817222	0.11447	N	0.563185	T	0.24890	0.0604	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.30621	-0.9972	9	0.10902	T	0.67	-1.7677	1.0094	0.01494	0.2496:0.3192:0.2432:0.188	.	137	Q96NL1	TMM74_HUMAN	E	137	.	ENSP00000297459:G137E	G	-	2	0	TMEM74	109866094	0.018000	0.18449	0.005000	0.12908	0.141000	0.21300	0.119000	0.15626	0.102000	0.17638	-0.176000	0.13171	GGG	TMEM74	-	NULL	ENSG00000164841		0.473	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	99	0.00	0	C	NM_153015		109796918	109796918	-1	no_errors	ENST00000297459	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.014	T
TMEM97	27346	genome.wustl.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DS02|Q07823	Frame_Shift_Del	DEL	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.K176fs	ENST00000226230.6	37	c.519	CCDS11226.2	17																																																																																			TMEM97	-	pirsf_Transmembrane_6/97	ENSG00000109084		0.438	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	HGNC	protein_coding	OTTHUMT00000255675.2	98	0.00	0	A	NM_014573		26653807	26653807	+1	no_errors	ENST00000226230	ensembl	human	known	69_37n	frame_shift_del	66	32.04	33	DEL	1.000	-
TMPRSS7	344805	genome.wustl.edu	37	3	111795940	111795940	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:111795940C>T	ENST00000452346.2	+	16	2176	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R599C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	725	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R454C(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGAGAGTTCGCAGTGGGGA	0.507																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											95.0	88.0	90.0					3																	111795940		1958	4154	6112	-	-	-	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2173C>T	3.37:g.111795940C>T	ENSP00000398236:p.Arg725Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R599C	ENST00000452346.2	37	c.1795		3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970210	0.74246	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.88975	-2.45;-2.45	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.638858	0.17343	N	0.177672	D	0.91858	0.7423	M	0.64404	1.975	0.21220	N	0.999759	D;D	0.76494	0.999;0.998	P;P	0.57846	0.828;0.719	D	0.86417	0.1752	10	0.72032	D	0.01	.	12.783	0.57487	0.0:0.9247:0.0:0.0753	.	725;599	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	C	725;713;699;599	ENSP00000398236:R725C;ENSP00000411645:R599C	ENSP00000411645:R599C	R	+	1	0	TMPRSS7	113278630	0.537000	0.26386	0.723000	0.30687	0.897000	0.52465	4.368000	0.59505	2.906000	0.99361	0.655000	0.94253	CGC	TMPRSS7	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000176040		0.507	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	189	0.00	0	C	XM_293599		111795940	111795940	+1	no_errors	ENST00000419127	ensembl	human	known	69_37n	missense	160	20.00	40	SNP	0.056	T
TMSB15A	11013	genome.wustl.edu	37	X	101770012	101770012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:101770012delT	ENST00000289373.4	-	2	215	c.80delA	c.(79-81)aatfs	p.N27fs		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	27					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						GGGAAGAGTATTTTTTTCTTC	0.373																																						dbGAP											0													135.0	130.0	131.0					X																	101770012		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"""thymosin-like 8"""	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.80delA	X.37:g.101770012delT	ENSP00000289373:p.Asn27fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K614|Q99406	Frame_Shift_Del	DEL	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata	p.N27fs	ENST00000289373.4	37	c.80	CCDS14498.1	X																																																																																			TMSB15A	-	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_chordata	ENSG00000158164		0.373	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMSB15A	HGNC	protein_coding	OTTHUMT00000057621.1	386	0.26	1	T	NM_021992		101770012	101770012	-1	no_errors	ENST00000289373	ensembl	human	known	69_37n	frame_shift_del	200	28.42	81	DEL	0.981	-
TNFSF8	944	genome.wustl.edu	37	9	117666356	117666356	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:117666356T>C	ENST00000223795.2	-	4	673	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	187					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAGATTCTGGTATACGTGTTT	0.428																																						dbGAP											0													278.0	242.0	254.0					9																	117666356		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.560A>G	9.37:g.117666356T>C	ENSP00000223795:p.Tyr187Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43404	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_CD30_ligand_type,pfscan_TNF	p.Y187C	ENST00000223795.2	37	c.560	CCDS6810.1	9	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554297	0.45487	.	.	ENSG00000106952	ENST00000223795	D	0.95377	-3.69	5.78	4.58	0.56647	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.113565	0.39687	N	0.001294	D	0.94295	0.8167	L	0.27053	0.805	0.34730	D	0.729629	D	0.89917	1.0	D	0.72982	0.979	D	0.94467	0.7681	10	0.87932	D	0	-21.4288	4.686	0.12758	0.1678:0.0867:0.0:0.7455	.	187	P32971	TNFL8_HUMAN	C	187	ENSP00000223795:Y187C	ENSP00000223795:Y187C	Y	-	2	0	TNFSF8	116706177	1.000000	0.71417	0.997000	0.53966	0.576000	0.36127	1.110000	0.31147	2.203000	0.70933	0.533000	0.62120	TAC	TNFSF8	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_CD30_ligand_type,pfscan_TNF	ENSG00000106952		0.428	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF8	HGNC	protein_coding	OTTHUMT00000055464.1	301	0.00	0	T			117666356	117666356	-1	no_errors	ENST00000223795	ensembl	human	known	69_37n	missense	170	37.50	102	SNP	0.998	C
TNC	3371	genome.wustl.edu	37	9	117825465	117825465	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:117825465T>C	ENST00000350763.4	-	13	4175	c.3764A>G	c.(3763-3765)gAg>gGg	p.E1255G	TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1255G|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1255	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATCTGGAACCTCCTCTGCATA	0.478																																						dbGAP											0													76.0	67.0	70.0					9																	117825465		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3764A>G	9.37:g.117825465T>C	ENSP00000265131:p.Glu1255Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E1255G	ENST00000350763.4	37	c.3764	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997294	0.35226	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.55413	0.53;0.52	5.4	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.475115	0.23079	N	0.052175	T	0.50735	0.1633	M	0.78456	2.415	0.80722	D	1	B;B	0.22414	0.069;0.008	B;B	0.22386	0.039;0.007	T	0.43376	-0.9395	10	0.23891	T	0.37	.	9.1081	0.36710	0.0:0.0828:0.0:0.9172	.	1255;1255	E9PC84;P24821	.;TENA_HUMAN	G	1255	ENSP00000265131:E1255G;ENSP00000411406:E1255G	ENSP00000265131:E1255G	E	-	2	0	TNC	116865286	0.603000	0.26924	0.981000	0.43875	0.996000	0.88848	1.560000	0.36331	0.993000	0.38866	0.533000	0.62120	GAG	TNC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.478	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	104	0.00	0	T	NM_002160		117825465	117825465	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	91	22.88	27	SNP	1.000	C
TNKS	8658	genome.wustl.edu	37	8	9623846	9623848	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:9623846_9623848delCTC	ENST00000310430.6	+	25	3677_3679	c.3651_3653delCTC	c.(3649-3654)aactcc>aac	p.S1219del	TNKS_ENST00000518281.1_In_Frame_Del_p.S982del	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1219	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTGCTGAAAACTCCTCAAAAAGC	0.419																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3651_3653delCTC	8.37:g.9623849_9623851delCTC	ENSP00000311579:p.Ser1219del	Somatic		WXS	Illumina GAIIx	Phase_IV	O95272|Q4G0F2	In_Frame_Del	DEL	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1219in_frame_del	ENST00000310430.6	37	c.3651_3653	CCDS5974.1	8																																																																																			TNKS	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173273		0.419	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	41	0.00	0	CTC	NM_003747		9623846	9623848	+1	no_errors	ENST00000310430	ensembl	human	known	69_37n	in_frame_del	56	12.50	8	DEL	0.993:1.000:1.000	-
TNN	63923	genome.wustl.edu	37	1	175092592	175092592	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:175092592G>A	ENST00000239462.4	+	12	2820	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	903	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TATGGCCACTGTCTCCTGGGA	0.507																																						dbGAP											0													59.0	59.0	59.0					1																	175092592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2707G>A	1.37:g.175092592G>A	ENSP00000239462:p.Val903Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.V903I	ENST00000239462.4	37	c.2707	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611711	0.14066	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.56275	0.47	4.98	-7.89	0.01174	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.751110	0.12217	N	0.488757	T	0.27205	0.0667	N	0.16233	0.39	0.21604	N	0.999624	B	0.12013	0.005	B	0.17722	0.019	T	0.17018	-1.0383	10	0.25751	T	0.34	.	9.0404	0.36314	0.5885:0.0:0.3124:0.0991	.	903	Q9UQP3	TENN_HUMAN	I	903;726	ENSP00000239462:V903I	ENSP00000239462:V903I	V	+	1	0	TNN	173359215	0.000000	0.05858	0.174000	0.22961	0.487000	0.33371	-1.996000	0.01471	-1.199000	0.02666	0.462000	0.41574	GTC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	493	0.00	0	G	XM_040527		175092592	175092592	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	509	12.97	76	SNP	0.001	A
TNPO3	23534	genome.wustl.edu	37	7	128641146	128641146	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:128641146T>C	ENST00000265388.5	-	6	982	c.839A>G	c.(838-840)tAt>tGt	p.Y280C	TNPO3_ENST00000471166.1_Missense_Mutation_p.Y280C|TNPO3_ENST00000471234.1_Missense_Mutation_p.Y280C|TNPO3_ENST00000482320.1_Missense_Mutation_p.Y214C|TNPO3_ENST00000393245.1_Missense_Mutation_p.Y280C			Q9Y5L0	TNPO3_HUMAN	transportin 3	280					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGCCATATGATAGGCAGTCTC	0.443																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													183.0	158.0	167.0					7																	128641146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.839A>G	7.37:g.128641146T>C	ENSP00000265388:p.Tyr280Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.Y280C	ENST00000265388.5	37	c.839	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442592	0.83993	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50565	0.1623	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.99;1.0;0.962	T	0.45991	-0.9223	10	0.48119	T	0.1	.	14.3281	0.66534	0.0:0.0:0.0:1.0	.	280;280;280	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	C	280;280;214;280;280	ENSP00000376936:Y280C;ENSP00000265388:Y280C;ENSP00000420089:Y214C;ENSP00000418646:Y280C;ENSP00000418267:Y280C	ENSP00000265388:Y280C	Y	-	2	0	TNPO3	128428382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.937000	0.87672	2.330000	0.79161	0.528000	0.53228	TAT	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.443	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	242	0.00	0	T	NM_012470		128641146	128641146	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	missense	264	11.41	34	SNP	1.000	C
TNRC6A	27327	genome.wustl.edu	37	16	24831653	24831653	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:24831653G>T	ENST00000395799.3	+	22	5403	c.5274G>T	c.(5272-5274)tgG>tgT	p.W1758C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.W236C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.W1709C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1758	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTGGAGGATGGGGAAATTCTG	0.502																																						dbGAP											0													86.0	86.0	86.0					16																	24831653		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5274G>T	16.37:g.24831653G>T	ENSP00000379144:p.Trp1758Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.W1758C	ENST00000395799.3	37	c.5274	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.071828|4.071828	0.76301|0.76301	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T;T	.|0.41758	.|0.99;0.99;0.99	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63546|0.63546	0.2520|0.2520	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.948;0.997	T|T	0.65969|0.65969	-0.6039|-0.6039	5|10	.|0.87932	.|D	.|0	-2.2285|-2.2285	14.0028|14.0028	0.64444|0.64444	0.0721:0.0:0.9279:0.0|0.0721:0.0:0.9279:0.0	.|.	.|1709;1758	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	W|C	649|1709;1758;236	.|ENSP00000326900:W1709C;ENSP00000379144:W1758C;ENSP00000403015:W236C	.|ENSP00000326900:W1709C	G|W	+|+	1|3	0|0	TNRC6A|TNRC6A	24739154|24739154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.965000|7.965000	0.87945|0.87945	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	GGG|TGG	TNRC6A	-	NULL	ENSG00000090905		0.502	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	105	0.00	0	G	NM_020847		24831653	24831653	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	104	19.38	25	SNP	1.000	T
TNS3	64759	genome.wustl.edu	37	7	47408022	47408022	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:47408022G>A	ENST00000398879.1	-	17	2587	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	TNS3_ENST00000355730.3_Missense_Mutation_p.R501W|TNS3_ENST00000311160.9_Missense_Mutation_p.R741W			Q68CZ2	TENS3_HUMAN	tensin 3	741					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGCTTGCCCGGAGCCCACCT	0.677																																						dbGAP											0													76.0	87.0	83.0					7																	47408022		2009	4167	6176	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2221C>T	7.37:g.47408022G>A	ENSP00000381854:p.Arg741Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R741W	ENST00000398879.1	37	c.2221	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741832	0.30865	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.95035	-3.14;-3.14;-3.59;-3.29	5.11	-0.001	0.14036	.	1.512000	0.03596	N	0.232569	D	0.89382	0.6699	L	0.32530	0.975	0.19300	N	0.999976	B	0.13594	0.008	B	0.06405	0.002	T	0.75269	-0.3377	10	0.34782	T	0.22	-8.7842	3.5797	0.07947	0.2505:0.0:0.454:0.2955	.	741	Q68CZ2	TENS3_HUMAN	W	741;851;741;501;197;844	ENSP00000312143:R741W;ENSP00000381854:R741W;ENSP00000347968:R501W;ENSP00000414358:R844W	ENSP00000312143:R741W	R	-	1	2	TNS3	47374547	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.688000	0.25422	-0.233000	0.09797	-0.181000	0.13052	CGG	TNS3	-	NULL	ENSG00000136205		0.677	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	77	0.00	0	G	NM_022748		47408022	47408022	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	0.004	A
TOM1L2	146691	genome.wustl.edu	37	17	17772753	17772753	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:17772753C>T	ENST00000379504.3	-	8	895	c.812G>A	c.(811-813)cGc>cAc	p.R271H	TOM1L2_ENST00000318094.10_Missense_Mutation_p.R226H|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R123H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R226H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R173H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R218H|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R221H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R4H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	271	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CTCCACGATGCGCTGCTGCAT	0.562																																					Melanoma(192;2505 2909 14455 25269)	dbGAP											0													77.0	66.0	69.0					17																	17772753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.812G>A	17.37:g.17772753C>T	ENSP00000368818:p.Arg271His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R271H	ENST00000379504.3	37	c.812	CCDS42270.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.574697	0.96553	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	T;T;T;T;T;T	0.51574	0.7;0.71;0.7;0.7;0.7;0.7	5.46	5.46	0.80206	GAT (2);	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;1.0;0.999;0.998;0.999;0.999	T	0.82271	-0.0540	10	0.87932	D	0	-14.5304	19.3216	0.94243	0.0:1.0:0.0:0.0	.	221;173;123;218;226;271;221	B7Z8F0;B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;.;TM1L2_HUMAN;.	H	271;221;226;218;173;123;221	ENSP00000368818:R271H;ENSP00000312860:R221H;ENSP00000379088:R226H;ENSP00000438621:R218H;ENSP00000437655:R173H;ENSP00000445188:R123H	ENSP00000312860:R221H	R	-	2	0	TOM1L2	17713478	1.000000	0.71417	0.997000	0.53966	1.000000	0.99986	7.697000	0.84279	2.573000	0.86826	0.655000	0.94253	CGC	TOM1L2	-	pfam_GAT,pirsf_TOM1,pfscan_GAT	ENSG00000175662		0.562	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	59	0.00	0	C			17772753	17772753	-1	no_errors	ENST00000379504	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	T
TOP2A	7153	genome.wustl.edu	37	17	38557207	38557207	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:38557207A>G	ENST00000423485.1	-	21	2717	c.2559T>C	c.(2557-2559)gcT>gcC	p.A853A		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	853					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CGATTCCTTCAGCACCATTTA	0.423																																						dbGAP											0													245.0	234.0	238.0					17																	38557207		1951	4150	6101	-	-	-	SO:0001819	synonymous_variant	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2559T>C	17.37:g.38557207A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.A853	ENST00000423485.1	37	c.2559	CCDS45672.1	17																																																																																			TOP2A	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C	ENSG00000131747		0.423	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	255	0.00	0	A			38557207	38557207	-1	no_errors	ENST00000423485	ensembl	human	known	69_37n	silent	258	20.12	65	SNP	0.513	G
TOPBP1	11073	genome.wustl.edu	37	3	133358937	133358937	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:133358937C>T	ENST00000260810.5	-	13	2230	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	700	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGAGCCACCACGTTCTTTCAG	0.398								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													82.0	76.0	78.0					3																	133358937		1898	4117	6015	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2099G>A	3.37:g.133358937C>T	ENSP00000260810:p.Arg700His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.R700H	ENST00000260810.5	37	c.2099	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931366	0.73442	.	.	ENSG00000163781	ENST00000260810	D	0.82433	-1.61	5.65	4.79	0.61399	BRCT (4);	0.101248	0.64402	D	0.000001	T	0.74152	0.3679	N	0.08118	0	0.29345	N	0.86579	D	0.56746	0.977	P	0.47891	0.56	T	0.72603	-0.4243	10	0.40728	T	0.16	.	16.7142	0.85393	0.0:0.1305:0.8695:0.0	.	700	Q92547	TOPB1_HUMAN	H	700	ENSP00000260810:R700H	ENSP00000260810:R700H	R	-	2	0	TOPBP1	134841627	1.000000	0.71417	0.327000	0.25402	0.586000	0.36452	8.017000	0.88712	1.404000	0.46819	-0.139000	0.14373	CGT	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.398	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	112	0.00	0	C	NM_007027		133358937	133358937	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	99	28.78	40	SNP	0.987	T
TP53BP1	7158	genome.wustl.edu	37	15	43739559	43739559	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:43739559C>T	ENST00000263801.3	-	13	3074				TP53BP1_ENST00000450115.2_Intron|TP53BP1_ENST00000382039.3_Intron|TP53BP1_ENST00000605155.1_Intron|TP53BP1_ENST00000382044.4_Intron	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTTATTCACTCACCAATAG	0.408								Other conserved DNA damage response genes																														dbGAP											0													100.0	99.0	99.0					15																	43739559		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2821+4G>A	15.37:g.43739559C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	RNA	SNP	-	NULL	ENST00000263801.3	37	NULL	CCDS10096.1	15																																																																																			TP53BP1	-	-	ENSG00000067369		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	81	0.00	0	C			43739559	43739559	-1	no_errors	ENST00000414758	ensembl	human	known	69_37n	rna	65	26.97	24	SNP	1.000	T
TPTE	7179	genome.wustl.edu	37	21	10933936	10933936	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:10933936T>C	ENST00000361285.4	-	17	1272	c.943A>G	c.(943-945)Atg>Gtg	p.M315V	TPTE_ENST00000342420.5_Missense_Mutation_p.M277V|TPTE_ENST00000298232.7_Missense_Mutation_p.M297V|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	315	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACCACCATCTGACTGATT	0.333																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.943A>G	21.37:g.10933936T>C	ENSP00000355208:p.Met315Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.M315V	ENST00000361285.4	37	c.943	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.514	1.106597	0.20714	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85702	-2.02;-2.02;-2.02	2.07	2.07	0.26955	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.087169	0.85682	U	0.000000	D	0.83403	0.5247	L	0.42529	1.33	0.47621	D	0.999476	P;P;B	0.49862	0.86;0.929;0.21	P;P;B	0.53549	0.661;0.729;0.349	T	0.81382	-0.0958	10	0.46703	T	0.11	-40.1996	8.0889	0.30788	0.0:0.0:0.0:1.0	.	277;297;315	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	297;315;277	ENSP00000298232:M297V;ENSP00000355208:M315V;ENSP00000344441:M277V	ENSP00000298232:M297V	M	-	1	0	TPTE	9955807	1.000000	0.71417	0.896000	0.35187	0.278000	0.26855	3.846000	0.55888	1.204000	0.43247	0.163000	0.16589	ATG	TPTE	-	pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000166157		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	667	0.00	0	T			10933936	10933936	-1	no_errors	ENST00000361285	ensembl	human	known	69_37n	missense	621	11.29	79	SNP	1.000	C
TRBV5-4	28611	genome.wustl.edu	37	7	142168597	142168597	+	RNA	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:142168597G>A	ENST00000454561.2	-	0	326									T cell receptor beta variable 5-4																		ACTGAGAAGAGCATCTCAGAG	0.527																																						dbGAP											0													106.0	97.0	100.0					7																	142168597		1947	4138	6085	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168597G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.C42	ENST00000454561.2	37	c.126		7																																																																																			TRBV5-4	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000230099		0.527	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV5-4	HGNC	TR_V_gene	OTTHUMT00000351230.2	262	0.00	0	G	NG_001333		142168597	142168597	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000454561	ensembl	human	known	69_37n	silent	212	17.19	44	SNP	0.121	A
TRIM26	7726	genome.wustl.edu	37	6	30153672	30153672	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30153672C>T	ENST00000454678.2	-	10	2037	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	TRIM26_ENST00000453195.1_Missense_Mutation_p.R534H|TRIM26_ENST00000437089.1_Missense_Mutation_p.R534H	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	534	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						TAGCAGGAGGCGTGTTCCTGG	0.582																																						dbGAP											0													55.0	48.0	51.0					6																	30153672		1511	2707	4218	-	-	-	SO:0001583	missense	0			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1601G>A	6.37:g.30153672C>T	ENSP00000410446:p.Arg534His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG96|Q5SRL2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R534H	ENST00000454678.2	37	c.1601	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060748	0.36373	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.63580	-0.05;-0.05;-0.05	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.340804	0.21290	N	0.076999	T	0.56529	0.1991	L	0.38175	1.15	0.09310	N	1	D;D	0.76494	0.999;0.983	P;P	0.58077	0.832;0.664	T	0.54476	-0.8288	10	0.44086	T	0.13	.	15.5017	0.75703	0.0:1.0:0.0:0.0	.	534;534	Q5SRL2;Q12899	.;TRI26_HUMAN	H	534	ENSP00000391879:R534H;ENSP00000410446:R534H;ENSP00000395491:R534H	ENSP00000395491:R534H	R	-	2	0	TRIM26	30261651	0.334000	0.24739	0.042000	0.18584	0.415000	0.31203	0.543000	0.23237	2.716000	0.92895	0.544000	0.68410	CGC	TRIM26	-	superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000234127		0.582	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1	35	0.00	0	C	NM_003449		30153672	30153672	-1	no_errors	ENST00000437089	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	0.027	T
TRIM39	56658	genome.wustl.edu	37	6	30309645	30309645	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30309645C>T	ENST00000396547.1	+	8	1326	c.1166C>T	c.(1165-1167)aCc>aTc	p.T389I	TRIM39_ENST00000376656.4_Missense_Mutation_p.T389I|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.T271I|TRIM39_ENST00000376659.5_Missense_Mutation_p.T359I|TRIM39_ENST00000396551.3_Missense_Mutation_p.T359I|TRIM39_ENST00000396548.1_Missense_Mutation_p.T359I|TRIM39_ENST00000540416.1_Missense_Mutation_p.T359I			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GAGGGTTTCACCTCAGGTCGA	0.592																																						dbGAP											0													111.0	74.0	87.0					6																	30309645		1511	2709	4220	-	-	-	SO:0001583	missense	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1166C>T	6.37:g.30309645C>T	ENSP00000379796:p.Thr389Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T389I	ENST00000396547.1	37	c.1166	CCDS34377.1	6	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076581	0.55753	.	.	ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	T	0.63604	0.2525	L	0.60455	1.87	0.33934	D	0.642381	D;P;P	0.64830	0.994;0.454;0.933	P;B;P	0.59703	0.862;0.168;0.706	T	0.67205	-0.5729	10	0.45353	T	0.12	.	12.4587	0.55718	0.1672:0.8328:0.0:0.0	.	273;389;359	F5H2V3;Q9HCM9;Q9HCM9-2	.;TRI39_HUMAN;.	I	359;389;389;359;359;273;359;359;389;271	ENSP00000379800:T359I;ENSP00000365844:T389I;ENSP00000439400:T359I;ENSP00000379797:T359I;ENSP00000365847:T359I;ENSP00000379796:T389I;ENSP00000424048:T271I	ENSP00000365844:T389I	T	+	2	0	TRIM39-RPP21;TRIM39	30417624	0.006000	0.16342	1.000000	0.80357	0.992000	0.81027	0.221000	0.17680	2.730000	0.93505	0.655000	0.94253	ACC	TRIM39	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000204599		0.592	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	93	0.00	0	C	NM_172016		30309645	30309645	+1	no_errors	ENST00000376656	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	T
TRIM42	287015	genome.wustl.edu	37	3	140401472	140401472	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:140401472G>A	ENST00000286349.3	+	2	701	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	170						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGAAGTGCCTGCGGCAGCTGC	0.602																																						dbGAP											0													102.0	94.0	97.0					3																	140401472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.510G>A	3.37:g.140401472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.L170	ENST00000286349.3	37	c.510	CCDS3113.1	3																																																																																			TRIM42	-	pfscan_Znf_RING	ENSG00000155890		0.602	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	92	0.00	0	G	NM_152616		140401472	140401472	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	silent	82	19.61	20	SNP	0.980	A
TRIM48	79097	genome.wustl.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					dbGAP											22	Substitution - Missense(22)	endometrium(22)											109.0	112.0	111.0					11																	55035844		2189	4259	6448	-	-	-	SO:0001583	missense	0			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUW4	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y192H	ENST00000417545.2	37	c.574	CCDS7947.2	11	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC	TRIM48	-	NULL	ENSG00000150244		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM48	HGNC	protein_coding	OTTHUMT00000347088.1	77	0.00	0	T			55035844	55035844	+1	no_errors	ENST00000417545	ensembl	human	known	69_37n	missense	99	16.10	19	SNP	0.183	C
TRIM7	81786	genome.wustl.edu	37	5	180630381	180630381	+	Intron	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:180630381C>T	ENST00000274773.7	-	2	680				TRIM7_ENST00000393315.1_Intron|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393319.3_5'Flank|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000422067.2_Intron|CTC-338M12.1_ENST00000503314.1_RNA|TRIM7_ENST00000334421.5_3'UTR|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000419707.2_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		ctggtttgtacaacaattatg	0.413																																					Esophageal Squamous(128;2258 2308 35507 48647)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.618+163G>A	5.37:g.180630381C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	RNA	SNP	-	NULL	ENST00000274773.7	37	NULL	CCDS4462.1	5																																																																																			TRIM7	-	-	ENSG00000146054		0.413	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	54	0.00	0	C	NM_203296		180630381	180630381	-1	no_errors	ENST00000509199	ensembl	human	putative	69_37n	rna	36	10.00	4	SNP	0.086	T
TRMT12	55039	genome.wustl.edu	37	8	125463370	125463370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:125463370G>T	ENST00000328599.3	+	1	323	c.202G>T	c.(202-204)Gag>Tag	p.E68*	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	68					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACGCTTCCAGAGCAGCACCT	0.587																																						dbGAP											0													46.0	46.0	46.0					8																	125463370		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.202G>T	8.37:g.125463370G>T	ENSP00000329858:p.Glu68*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PKB9|Q96F21|Q9NWK6	Nonsense_Mutation	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.E68*	ENST00000328599.3	37	c.202	CCDS6349.1	8	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637362	0.67130	.	.	ENSG00000183665	ENST00000328599	.	.	.	4.87	4.87	0.63330	.	0.247588	0.42294	D	0.000730	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-15.6259	14.2488	0.66007	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000329858:E68X	E	+	1	0	TRMT12	125532551	0.995000	0.38212	0.509000	0.27700	0.171000	0.22731	3.127000	0.50484	2.637000	0.89404	0.555000	0.69702	GAG	TRMT12	-	NULL	ENSG00000183665		0.587	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT12	HGNC	protein_coding	OTTHUMT00000381465.1	66	0.00	0	G	NM_017956		125463370	125463370	+1	no_errors	ENST00000328599	ensembl	human	known	69_37n	nonsense	32	64.44	58	SNP	0.961	T
TROVE2	6738	genome.wustl.edu	37	1	193053997	193053997	+	3'UTR	DEL	A	A	-	rs201693727|rs549404223		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:193053997delA	ENST00000367446.3	+	0	1963				TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000400968.2_3'UTR|TROVE2_ENST00000432079.1_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACCTTACTGAAAAAAAAAAA	0.358																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*136A>-	1.37:g.193053997delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-	ENSG00000116747		0.358	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	34	0.00	0	A	NM_004600		193053997	193053997	+1	no_errors	ENST00000432079	ensembl	human	known	69_37n	rna	20	43.75	21	DEL	0.000	-
TRPC1	7220	genome.wustl.edu	37	3	142503808	142503808	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:142503808A>G	ENST00000476941.1	+	7	1709	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	TRPC1_ENST00000273482.6_Missense_Mutation_p.Y374C	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	408					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTCTTGTCTACAATGAGGAT	0.348																																						dbGAP											0													82.0	81.0	81.0					3																	142503808		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1223A>G	3.37:g.142503808A>G	ENSP00000419313:p.Tyr408Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Y408C	ENST00000476941.1	37	c.1223	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881686	0.72294	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.41758	0.99;0.99	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.77557	0.99;0.916	T	0.53739	-0.8396	10	0.44086	T	0.13	-13.9368	15.9494	0.79820	1.0:0.0:0.0:0.0	.	408;374	P48995;P48995-2	TRPC1_HUMAN;.	C	408;374	ENSP00000419313:Y408C;ENSP00000273482:Y374C	ENSP00000273482:Y374C	Y	+	2	0	TRPC1	143986498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.919000	0.92770	2.167000	0.68274	0.482000	0.46254	TAC	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.348	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	93	0.00	0	A	NM_003304		142503808	142503808	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	94	12.96	14	SNP	1.000	G
TRPC1	7220	genome.wustl.edu	37	3	142521187	142521187	+	Splice_Site	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:142521187G>A	ENST00000476941.1	+	10	2243		c.e10+1		RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Splice_Site	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1						axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCTTCCATTCGTGAGTATCTT	0.308																																						dbGAP											0													81.0	78.0	79.0					3																	142521187		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1757+1G>A	3.37:g.142521187G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Splice_Site	SNP	-	e10+1	ENST00000476941.1	37	c.1757+1	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824828	0.90955	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.704	0.96066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPC1	144003877	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.761000	0.98940	2.726000	0.93360	0.650000	0.86243	.	TRPC1	-	-	ENSG00000144935		0.308	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	99	0.00	0	G	NM_003304	Intron	142521187	142521187	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	splice_site	85	32.54	41	SNP	1.000	A
TRPC6	7225	genome.wustl.edu	37	11	101341944	101341944	+	Frame_Shift_Del	DEL	T	T	-	rs144927067		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:101341944delT	ENST00000344327.3	-	9	2803	c.2379delA	c.(2377-2379)aaafs	p.K793fs	TRPC6_ENST00000532133.1_Frame_Shift_Del_p.K715fs|TRPC6_ENST00000348423.4_Frame_Shift_Del_p.K677fs|TRPC6_ENST00000360497.4_Frame_Shift_Del_p.K738fs	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	793					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCTGGAAACCTTTTTTATGGC	0.393																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											0													135.0	142.0	140.0					11																	101341944		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2379delA	11.37:g.101341944delT	ENSP00000340913:p.Lys793fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.G794fs	ENST00000344327.3	37	c.2379	CCDS8311.1	11																																																																																			TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.393	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	286	0.00	0	T	NM_004621		101341944	101341944	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	frame_shift_del	206	36.36	120	DEL	0.992	-
TRPC7	57113	genome.wustl.edu	37	5	135551913	135551913	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:135551913G>A	ENST00000513104.1	-	11	2676	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	TRPC7_ENST00000355180.3_Silent_p.D737D|TRPC7_ENST00000426057.2_Silent_p.D682D|TRPC7-AS1_ENST00000514459.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	798					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATTTTCTCTGTCCACCTGGG	0.473																																						dbGAP											0													114.0	113.0	113.0					5																	135551913		1905	4122	6027	-	-	-	SO:0001819	synonymous_variant	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2394C>T	5.37:g.135551913G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.Q743*	ENST00000513104.1	37	c.2227	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	8.623	0.891780	0.17613	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	4.92	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.558	10.6754	0.45783	0.2332:0.0:0.7668:0.0	.	.	.	.	X	682;737;743	.	.	Q	-	1	0	TRPC7	135579812	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.065000	0.30592	0.127000	0.18452	0.561000	0.74099	CAG	TRPC7	-	superfamily_ARM-type_fold,tigrfam_TRP_channel	ENSG00000069018		0.473	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	16	0.00	0	G	NM_020389		135551913	135551913	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502753	ensembl	human	novel	69_37n	nonsense	6	40.00	4	SNP	1.000	A
TRPV4	59341	genome.wustl.edu	37	12	110236432	110236432	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:110236432G>A	ENST00000418703.2	-	5	1233	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	TRPV4_ENST00000541794.1_Missense_Mutation_p.T333M|TRPV4_ENST00000392719.2_Missense_Mutation_p.T333M|TRPV4_ENST00000536838.1_Missense_Mutation_p.T346M|TRPV4_ENST00000346520.2_Missense_Mutation_p.T380M|TRPV4_ENST00000261740.2_Missense_Mutation_p.T380M|TRPV4_ENST00000544971.1_Missense_Mutation_p.T333M|TRPV4_ENST00000537083.1_Missense_Mutation_p.T380M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	380					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATCTTGCCCGTCTTGGCAGC	0.612																																						dbGAP											0													63.0	56.0	58.0					12																	110236432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1139C>T	12.37:g.110236432G>A	ENSP00000406191:p.Thr380Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.T380M	ENST00000418703.2	37	c.1139	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552178	0.27739	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	4.9	4.01	0.46588	Ankyrin repeat-containing domain (3);	0.213658	0.42821	N	0.000658	T	0.33962	0.0881	N	0.17594	0.5	0.19300	N	0.999971	B;D;P;B;P	0.56035	0.29;0.974;0.495;0.358;0.514	B;B;B;B;B	0.36378	0.02;0.223;0.079;0.101;0.069	T	0.18587	-1.0332	10	0.40728	T	0.16	-21.8359	9.2952	0.37811	0.1642:0.0:0.8358:0.0	.	380;380;333;333;346	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	380;380;333;380;333;380;333;346	ENSP00000406191:T380M;ENSP00000261740:T380M;ENSP00000376480:T333M;ENSP00000319003:T380M;ENSP00000443611:T333M;ENSP00000442738:T380M;ENSP00000442167:T333M;ENSP00000444336:T346M	ENSP00000261740:T380M	T	-	2	0	TRPV4	108720815	0.989000	0.36119	0.992000	0.48379	0.856000	0.48823	2.295000	0.43576	1.211000	0.43351	-0.126000	0.14955	ACG	TRPV4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000111199		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	38	0.00	0	G	NM_021625		110236432	110236432	-1	no_errors	ENST00000261740	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.972	A
TSEN34	79042	genome.wustl.edu	37	19	54695601	54695601	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:54695601G>T	ENST00000396383.1	+	3	584	c.273G>T	c.(271-273)gaG>gaT	p.E91D	CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.E91D|MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000429671.2_Missense_Mutation_p.E91D|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank|TSEN34_ENST00000302937.4_Missense_Mutation_p.E91D|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	91					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCAGCAAGAGGAGAGCTTCC	0.597																																					Esophageal Squamous(37;841 964 4869 42824)	dbGAP											0													57.0	60.0	59.0					19																	54695601		1949	4141	6090	-	-	-	SO:0001583	missense	0			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.273G>T	19.37:g.54695601G>T	ENSP00000379667:p.Glu91Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic	p.E91D	ENST00000396383.1	37	c.273	CCDS42609.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162023	0.38217	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.67345	-0.26;-0.25;-0.23;-0.24;-0.23;-0.23	4.36	0.805	0.18703	.	0.458420	0.22589	N	0.058120	T	0.50905	0.1643	L	0.51422	1.61	0.29305	N	0.868444	B;B	0.30824	0.296;0.296	B;B	0.24848	0.056;0.041	T	0.38457	-0.9660	10	0.27082	T	0.32	.	5.7767	0.18283	0.1842:0.1579:0.6579:0.0	.	91;91	E7EQB3;Q9BSV6	.;SEN34_HUMAN	D	91;94;91;91;91;91	ENSP00000400743:E91D;ENSP00000408689:E94D;ENSP00000305524:E91D;ENSP00000397402:E91D;ENSP00000379667:E91D;ENSP00000379671:E91D	ENSP00000305524:E91D	E	+	3	2	TSEN34	59387413	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.803000	0.38863	0.063000	0.16370	0.561000	0.74099	GAG	TSEN34	-	pirsf_tRNA_splic_SEN34	ENSG00000170892		0.597	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN34	HGNC	protein_coding	OTTHUMT00000142200.1	107	0.00	0	G	NM_024075		54695601	54695601	+1	no_errors	ENST00000429671	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	0.957	T
TSGA10	80705	genome.wustl.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:99722093G>A	ENST00000393483.3	-	8	1122	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_ENST00000539964.1_Missense_Mutation_p.T93M|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.T93M|TSGA10_ENST00000542655.1_Missense_Mutation_p.T93M|TSGA10_ENST00000410001.1_Missense_Mutation_p.T93M	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	93					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.T93M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											238.0	229.0	232.0					2																	99722093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.278C>T	2.37:g.99722093G>A	ENSP00000377123:p.Thr93Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.T93M	ENST00000393483.3	37	c.278	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271194	0.80469	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.75;0.73	4.99	4.99	0.66335	.	0.104336	0.42821	D	0.000649	T	0.61085	0.2319	L	0.44542	1.39	0.39356	D	0.965848	D;D	0.89917	1.0;1.0	D;D	0.71870	0.96;0.975	T	0.62364	-0.6870	10	0.49607	T	0.09	-14.2659	17.049	0.86513	0.0:0.0:1.0:0.0	.	93;93	B7Z925;Q9BZW7	.;TSG10_HUMAN	M	93	ENSP00000377123:T93M;ENSP00000386956:T93M;ENSP00000347161:T93M;ENSP00000444419:T93M;ENSP00000386508:T93M;ENSP00000377122:T93M	ENSP00000347161:T93M	T	-	2	0	TSGA10	99088525	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.481000	0.81124	2.601000	0.87937	0.650000	0.86243	ACG	TSGA10	-	NULL	ENSG00000135951		0.413	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	448	0.00	0	G	NM_182911		99722093	99722093	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	367	28.18	144	SNP	1.000	A
TSHZ1	10194	genome.wustl.edu	37	18	72999170	72999170	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:72999170C>T	ENST00000580243.1	+	2	2156	c.1808C>T	c.(1807-1809)cCg>cTg	p.P603L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P558L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	603					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGGTGCAGCCGTCCTATGCT	0.692																																						dbGAP											0													34.0	34.0	34.0					18																	72999170		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1808C>T	18.37:g.72999170C>T	ENSP00000464391:p.Pro603Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.P603L	ENST00000580243.1	37	c.1808		18	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337475	0.41398	.	.	ENSG00000179981	ENST00000322038	T	0.26660	1.72	5.52	5.52	0.82312	.	0.057277	0.64402	D	0.000001	T	0.33000	0.0848	M	0.70595	2.14	0.36441	D	0.865463	P	0.52692	0.955	B	0.38194	0.267	T	0.15150	-1.0447	10	0.56958	D	0.05	-25.3485	19.4327	0.94778	0.0:1.0:0.0:0.0	.	603	Q6ZSZ6	TSH1_HUMAN	L	558	ENSP00000323584:P558L	ENSP00000323584:P558L	P	+	2	0	TSHZ1	71128158	1.000000	0.71417	0.182000	0.23118	0.830000	0.47004	5.776000	0.68924	-0.898000	0.03906	-0.254000	0.11334	CCG	TSHZ1	-	NULL	ENSG00000179981		0.692	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	37	0.00	0	C	NM_005786		72999170	72999170	+1	no_errors	ENST00000580243	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	0.000	T
TSPAN11	441631	genome.wustl.edu	37	12	31131548	31131548	+	Missense_Mutation	SNP	T	T	C	rs555750888		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:31131548T>C	ENST00000261177.9	+	4	388	c.329T>C	c.(328-330)cTg>cCg	p.L110P	TSPAN11_ENST00000546076.1_Missense_Mutation_p.L110P|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L100P|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L39P	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	110						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCGGGAGTCCTGGCCCATGTG	0.537													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21199	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													282.0	228.0	246.0					12																	31131548		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.329T>C	12.37:g.31131548T>C	ENSP00000261177:p.Leu110Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L158|B2RUX6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L110P	ENST00000261177.9	37	c.329	CCDS31765.1	12	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395229	0.42512	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	3.27	2.08	0.27032	.	0.000000	0.56097	U	0.000024	D	0.90745	0.7095	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.978;0.988	D	0.89006	0.3425	10	0.87932	D	0	.	7.5799	0.27959	0.0:0.0:0.2179:0.7821	.	100;110	F5H0F0;A1L157	.;TSN11_HUMAN	P	110;39;100;110	ENSP00000437403:L110P;ENSP00000445503:L39P;ENSP00000439895:L100P;ENSP00000261177:L110P	ENSP00000261177:L110P	L	+	2	0	TSPAN11	31022815	1.000000	0.71417	0.798000	0.32154	0.484000	0.33280	7.255000	0.78338	0.326000	0.23384	0.374000	0.22700	CTG	TSPAN11	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000110900		0.537	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSPAN11	HGNC	protein_coding	OTTHUMT00000399888.1	96	0.00	0	T	XM_497334		31131548	31131548	+1	no_errors	ENST00000261177	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	C
TSSK1B	83942	genome.wustl.edu	37	5	112769462	112769462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:112769462delG	ENST00000390666.3	-	1	1266	c.1075delC	c.(1075-1077)caafs	p.Q360fs	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	360					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGAGGCTGTTGGGGGGGCCCT	0.597																																						dbGAP											0													27.0	30.0	29.0					5																	112769462		1889	4096	5985	-	-	-	SO:0001589	frameshift_variant	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.1075delC	5.37:g.112769462delG	ENSP00000375081:p.Gln360fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D9	Frame_Shift_Del	DEL	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q359fs	ENST00000390666.3	37	c.1075	CCDS4112.1	5																																																																																			TSSK1B	-	NULL	ENSG00000212122		0.597	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	37	0.00	0	G	NM_032028		112769462	112769462	-1	no_errors	ENST00000390666	ensembl	human	known	69_37n	frame_shift_del	15	32.00	8	DEL	0.005	-
NDUFA13	51079	genome.wustl.edu	37	19	19625640	19625640	+	5'Flank	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:19625640G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|TSSK6_ENST00000585580.3_Silent_p.G199G|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|TSSK6_ENST00000360913.3_Silent_p.G199G			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGCACGACGCCCATGCTCC	0.657																																						dbGAP											0													56.0	42.0	47.0					19																	19625640		2203	4299	6502	-	-	-	SO:0001631	upstream_gene_variant	0			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625640G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G199	ENST00000507754.4	37	c.597	CCDS12404.2	19																																																																																			TSSK6	-	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	ENSG00000178093		0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	HGNC	protein_coding	OTTHUMT00000367916.6	21	0.00	0	G	NM_015965		19625640	19625640	-1	no_errors	ENST00000360913	ensembl	human	known	69_37n	silent	4	50.00	4	SNP	1.000	A
CFAP70	118491	genome.wustl.edu	37	10	75114498	75114498	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:75114498A>G	ENST00000310715.3	-	2	177	c.57T>C	c.(55-57)taT>taC	p.Y19Y	TTC18_ENST00000340329.3_Silent_p.Y19Y|TTC18_ENST00000401621.2_Silent_p.Y19Y|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Silent_p.Y19Y	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		19						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTACCAAATCATATCCCTCTG	0.438																																						dbGAP											0													107.0	87.0	94.0					10																	75114498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000310715.3:c.57T>C	10.37:g.75114498A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y19	ENST00000310715.3	37	c.57	CCDS7324.3	10																																																																																			TTC18	-	NULL	ENSG00000156042		0.438	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		73	0.00	0	A			75114498	75114498	-1	no_errors	ENST00000310715	ensembl	human	known	69_37n	silent	84	22.73	25	SNP	1.000	G
TTLL4	9654	genome.wustl.edu	37	2	219616427	219616427	+	Splice_Site	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:219616427C>A	ENST00000392102.1	+	16	3214	c.2874C>A	c.(2872-2874)agC>agA	p.S958R	TTLL4_ENST00000457313.1_Splice_Site_p.S793R|TTLL4_ENST00000258398.4_Splice_Site_p.S958R|TTLL4_ENST00000442769.1_Splice_Site_p.S894R	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	958					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCTGCCGTAGCCTGCCCACCT	0.517																																					GBM(172;1818 2053 15407 20943 49753)	dbGAP											0													68.0	58.0	61.0					2																	219616427		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2874-1C>A	2.37:g.219616427C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S958R	ENST00000392102.1	37	c.2874	CCDS2422.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.11|10.11	1.261303|1.261303	0.23051|0.23051	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000436668|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|T;T;T;T	.|0.04275	.|3.79;4.03;3.66;4.03	5.24|5.24	2.23|2.23	0.28157|0.28157	.|.	.|1.341260	.|0.04101	.|N	.|0.312897	T|T	0.07548|0.07548	0.0190|0.0190	L|L	0.53249|0.53249	1.67|1.67	0.27680|0.27680	N|N	0.946489|0.946489	.|B;P;B;P	.|0.42692	.|0.009;0.726;0.296;0.787	.|B;B;B;B	.|0.39217	.|0.01;0.206;0.201;0.294	T|T	0.38112|0.38112	-0.9676|-0.9676	5|9	.|.	.|.	.|.	.|.	8.3529|8.3529	0.32314|0.32314	0.0:0.6755:0.0:0.3245|0.0:0.6755:0.0:0.3245	.|.	.|161;793;894;958	.|B4DJF5;E9PH58;E7EX20;Q14679	.|.;.;.;TTLL4_HUMAN	T|R	103|793;958;894;958	.|ENSP00000393332:S793R;ENSP00000375951:S958R;ENSP00000396555:S894R;ENSP00000258398:S958R	.|.	P|S	+|+	1|3	0|2	TTLL4|TTLL4	219324671|219324671	0.820000|0.820000	0.29190|0.29190	0.628000|0.628000	0.29241|0.29241	0.282000|0.282000	0.26991|0.26991	0.935000|0.935000	0.28924|0.28924	0.779000|0.779000	0.33543|0.33543	0.650000|0.650000	0.86243|0.86243	CCT|AGC	TTLL4	-	NULL	ENSG00000135912		0.517	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	125	0.00	0	C	NM_014640	Missense_Mutation	219616427	219616427	+1	no_errors	ENST00000258398	ensembl	human	known	69_37n	missense	96	11.93	13	SNP	0.312	A
TTLL5	23093	genome.wustl.edu	37	14	76173408	76173408	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:76173408T>C	ENST00000298832.9	+	8	838	c.633T>C	c.(631-633)atT>atC	p.I211I	TTLL5_ENST00000557636.1_Silent_p.I211I|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000286650.5_Silent_p.I211I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	211	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGTTACATTAACAACCCCC	0.398																																						dbGAP											0													130.0	126.0	127.0					14																	76173408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.633T>C	14.37:g.76173408T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_Tub_tyr_ligase	p.I211	ENST00000298832.9	37	c.633	CCDS32124.1	14																																																																																			TTLL5	-	pfam_Tub_tyr_ligase	ENSG00000119685		0.398	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	192	0.00	0	T	NM_015072		76173408	76173408	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	silent	155	20.51	40	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179415916	179415916	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:179415916G>A	ENST00000591111.1	-	286	86643	c.86419C>T	c.(86419-86421)Cgt>Tgt	p.R28807C	RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27880C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21575C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21508C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21383C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30448C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28807	Fibronectin type-III 110. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCATCACGCAATGGTGGG	0.448																																						dbGAP											0													103.0	95.0	98.0					2																	179415916		1976	4183	6159	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86419C>T	2.37:g.179415916G>A	ENSP00000465570:p.Arg28807Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R27880C	ENST00000591111.1	37	c.83638		2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195297	0.58017	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62208	0.2409	L	0.39467	1.215	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.992	P;P;P;P	0.55871	0.786;0.786;0.786;0.786	T	0.63292	-0.6670	9	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	21383;21508;21575;28807	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27880;21383;21575;21508;21380	ENSP00000343764:R27880C;ENSP00000434586:R21383C;ENSP00000340554:R21575C;ENSP00000352154:R21508C	ENSP00000340554:R21575C	R	-	1	0	TTN	179124162	1.000000	0.71417	0.998000	0.56505	0.443000	0.32047	5.259000	0.65485	2.798000	0.96311	0.650000	0.86243	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	53	0.00	0	G	NM_133378		179415916	179415916	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	43	20.37	11	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179468880	179468880	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:179468880G>A	ENST00000591111.1	-	232	49835	c.49611C>T	c.(49609-49611)cgC>cgT	p.R16537R	TTN_ENST00000342992.6_Silent_p.R15610R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.R9305R|TTN_ENST00000359218.5_Silent_p.R9238R|TTN_ENST00000460472.2_Silent_p.R9113R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.R18178R			Q8WZ42	TITIN_HUMAN	titin	16537	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTTGGTGCGTGCCAAAA	0.448																																						dbGAP											0													153.0	151.0	151.0					2																	179468880		1926	4131	6057	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49611C>T	2.37:g.179468880G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R15610	ENST00000591111.1	37	c.46830		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	210	0.00	0	G	NM_133378		179468880	179468880	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	183	16.06	35	SNP	0.980	A
TTN	7273	genome.wustl.edu	37	2	179597327	179597327	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:179597327G>A	ENST00000591111.1	-	54	15734	c.15510C>T	c.(15508-15510)aaC>aaT	p.N5170N	TTN_ENST00000342992.6_Silent_p.N4243N|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.N5487N			Q8WZ42	TITIN_HUMAN	titin	12537	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCTCTTTGTTGCCCTTAA	0.463																																						dbGAP											0													66.0	64.0	65.0					2																	179597327		1869	4110	5979	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15510C>T	2.37:g.179597327G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N4243	ENST00000591111.1	37	c.12729		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	72	0.00	0	G	NM_133378		179597327	179597327	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	74	22.11	21	SNP	0.996	A
TTN	7273	genome.wustl.edu	37	2	179621104	179621104	+	Intron	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:179621104A>G	ENST00000591111.1	-	44	10528				TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I3529T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I3700T			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATTCCTCTATCTTTGCACC	0.408																																						dbGAP											0													106.0	102.0	103.0					2																	179621104		1887	4114	6001	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2606T>C	2.37:g.179621104A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I3529T	ENST00000591111.1	37	c.10586		2	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614973	0.28712	.	.	ENSG00000155657	ENST00000342175	T	0.68903	-0.36	6.16	-1.77	0.07982	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43845	-0.9366	8	0.87932	D	0	.	6.3217	0.21221	0.4698:0.3591:0.1712:0.0	.	3529	E7ET18	.	T	3529	ENSP00000340554:I3529T	ENSP00000340554:I3529T	I	-	2	0	TTN	179329349	0.043000	0.20138	0.001000	0.08648	0.935000	0.57460	3.251000	0.51453	-0.501000	0.06605	0.528000	0.53228	ATA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	115	0.00	0	A	NM_133378		179621104	179621104	-1	no_errors	ENST00000342175	ensembl	human	known	69_37n	missense	118	23.38	36	SNP	0.005	G
TULP4	56995	genome.wustl.edu	37	6	158900957	158900957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:158900957delC	ENST00000367097.3	+	7	2558	c.1201delC	c.(1201-1203)cccfs	p.P402fs	TULP4_ENST00000367094.2_Frame_Shift_Del_p.P402fs	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	402	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCTGACTCTGCCCCCCCGCCT	0.647																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											75.0	72.0	73.0					6																	158900957		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1201delC	6.37:g.158900957delC	ENSP00000356064:p.Pro402fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Frame_Shift_Del	DEL	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R403fs	ENST00000367097.3	37	c.1201	CCDS34561.1	6																																																																																			TULP4	-	pfam_SOCS_C,superfamily_Tumour_necrosis_fac-like,smart_SOCS_C,pfscan_SOCS_C	ENSG00000130338		0.647	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	81	0.00	0	C	NM_020245		158900957	158900957	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	frame_shift_del	94	13.68	16	DEL	1.000	-
TULP4	56995	genome.wustl.edu	37	6	158924637	158924637	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:158924637C>T	ENST00000367097.3	+	13	5299	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1314					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGCAGACAACTTCCAGGAAG	0.572																																						dbGAP											0													55.0	57.0	57.0					6																	158924637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3942C>T	6.37:g.158924637C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1314	ENST00000367097.3	37	c.3942	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.572	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	69	0.00	0	C	NM_020245		158924637	158924637	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	1.000	T
TXNDC2	84203	genome.wustl.edu	37	18	9888090	9888090	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:9888090C>T	ENST00000306084.6	+	2	1813	c.1614C>T	c.(1612-1614)tgC>tgT	p.C538C	TXNDC2_ENST00000357775.5_Silent_p.C471C|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	538	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATGAACTTTGCGGCGCCCTTA	0.413																																						dbGAP											0													34.0	36.0	35.0					18																	9888090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1614C>T	18.37:g.9888090C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.C538	ENST00000306084.6	37	c.1614	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000168454		0.413	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	88	0.00	0	C			9888090	9888090	+1	no_errors	ENST00000306084	ensembl	human	known	69_37n	silent	62	19.48	15	SNP	0.868	T
TXNDC5	81567	genome.wustl.edu	37	6	7904872	7904872	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:7904872C>A	ENST00000379757.4	-	2	385	c.348G>T	c.(346-348)gtG>gtT	p.V116V	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Silent_p.V8V|TXNDC5_ENST00000539054.1_Silent_p.V44V	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	116	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCACTTTAGCCACATAGACTT	0.577																																					Ovarian(119;1430 1625 3928 26125 34589)	dbGAP											0													189.0	139.0	156.0					6																	7904872		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.348G>T	6.37:g.7904872C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.V116	ENST00000379757.4	37	c.348	CCDS4505.1	6																																																																																			TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000239264		0.577	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	96	0.00	0	C	NM_030810		7904872	7904872	-1	no_errors	ENST00000379757	ensembl	human	known	69_37n	silent	43	10.42	5	SNP	1.000	A
TYRP1	7306	genome.wustl.edu	37	9	12709118	12709118	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:12709118A>T	ENST00000388918.5	+	8	1679	c.1550A>T	c.(1549-1551)gAt>gTt	p.D517V	TYRP1_ENST00000381136.2_Missense_Mutation_p.D227V|TYRP1_ENST00000381137.2_Missense_Mutation_p.D226V|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	517					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CTCCTCACTGATCAGTATCAA	0.423									Oculocutaneous Albinism																													dbGAP											0													154.0	140.0	144.0					9																	12709118		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1550A>T	9.37:g.12709118A>T	ENSP00000373570:p.Asp517Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.D517V	ENST00000388918.5	37	c.1550	CCDS34990.1	9	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425896	0.83667	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.82526	-1.62;-1.62;-1.62	5.0	5.0	0.66597	.	0.287588	0.43416	D	0.000571	D	0.86138	0.5861	L	0.53249	1.67	0.80722	D	1	D	0.56746	0.977	P	0.55577	0.779	D	0.87062	0.2154	10	0.54805	T	0.06	-10.3022	14.6992	0.69145	1.0:0.0:0.0:0.0	.	517	P17643	TYRP1_HUMAN	V	226;517;227	ENSP00000370529:D226V;ENSP00000373570:D517V;ENSP00000370528:D227V	ENSP00000370528:D227V	D	+	2	0	TYRP1	12699118	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	8.639000	0.91023	1.874000	0.54306	0.477000	0.44152	GAT	TYRP1	-	NULL	ENSG00000107165		0.423	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	162	0.00	0	A	NM_000550		12709118	12709118	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	missense	111	17.16	23	SNP	1.000	T
UACA	55075	genome.wustl.edu	37	15	70960850	70960850	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:70960850C>T	ENST00000322954.6	-	16	2358	c.2173G>A	c.(2173-2175)Gat>Aat	p.D725N	UACA_ENST00000539319.1_Missense_Mutation_p.D616N|UACA_ENST00000379983.2_Missense_Mutation_p.D712N|UACA_ENST00000560441.1_Missense_Mutation_p.D710N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	725					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.D725H(1)|p.D712H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCTTATTATCCAAATAAACT	0.318																																						dbGAP											2	Substitution - Missense(2)	lung(2)											92.0	93.0	92.0					15																	70960850		2199	4295	6494	-	-	-	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2173G>A	15.37:g.70960850C>T	ENSP00000314556:p.Asp725Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.D725N	ENST00000322954.6	37	c.2173	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582763	0.86748	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.38887	1.11;1.12;1.57	5.6	5.6	0.85130	.	0.090453	0.47852	D	0.000207	T	0.62696	0.2449	L	0.57536	1.79	0.54753	D	0.99998	D;D;D;D	0.76494	0.991;0.996;0.999;0.999	P;P;P;D	0.68192	0.894;0.905;0.905;0.956	T	0.63314	-0.6665	10	0.66056	D	0.02	-36.3284	19.6143	0.95626	0.0:1.0:0.0:0.0	.	616;725;725;712	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	725;712;616	ENSP00000314556:D725N;ENSP00000369319:D712N;ENSP00000438667:D616N	ENSP00000314556:D725N	D	-	1	0	UACA	68747904	1.000000	0.71417	0.952000	0.39060	0.980000	0.70556	7.152000	0.77419	2.640000	0.89533	0.561000	0.74099	GAT	UACA	-	NULL	ENSG00000137831		0.318	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	280	0.35	1	C			70960850	70960850	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	208	24.91	69	SNP	1.000	T
UBA1	7317	genome.wustl.edu	37	X	47066043	47066043	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:47066043delT	ENST00000335972.6	+	16	2121				UBA1_ENST00000377351.4_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000490869.1_3'UTR|UBA1_ENST00000377269.3_5'Flank	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1						cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tttattttgatttttttttca	0.328																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1938+200T>-	X.37:g.47066043delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	RNA	DEL	-	NULL	ENST00000335972.6	37	NULL	CCDS14275.1	X																																																																																			UBA1	-	-	ENSG00000130985		0.328	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	31	0.00	0	T	NM_003334		47066043	47066043	+1	no_errors	ENST00000490869	ensembl	human	known	69_37n	rna	9	35.71	5	DEL	0.000	-
UBAP2	55833	genome.wustl.edu	37	9	33923949	33923949	+	Silent	SNP	A	A	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:33923949A>C	ENST00000379238.1	-	24	2757	c.2640T>G	c.(2638-2640)gcT>gcG	p.A880A	UBAP2_ENST00000449054.1_Silent_p.A880A|UBAP2_ENST00000379235.1_Silent_p.A119A|UBAP2_ENST00000539807.1_Silent_p.A635A|UBAP2_ENST00000379239.4_Silent_p.A613A|UBAP2_ENST00000360802.1_Silent_p.A880A					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGGTGTGGTAGCGGGTGCAG	0.582																																						dbGAP											0													219.0	197.0	205.0					9																	33923949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2640T>G	9.37:g.33923949A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.A880	ENST00000379238.1	37	c.2640	CCDS6547.1	9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.582	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	84	0.00	0	A	NM_018449		33923949	33923949	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	silent	40	23.08	12	SNP	0.636	C
UBAP2L	9898	genome.wustl.edu	37	1	154215409	154215409	+	Intron	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:154215409delT	ENST00000361546.2	+	9	798				UBAP2L_ENST00000343815.6_Intron|UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTCTTTTATTTTTTTTTTT	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.757-284T>-	1.37:g.154215409delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	DEL	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-	ENSG00000143569		0.378	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	24	0.00	0	T	NM_014847		154215409	154215409	+1	no_errors	ENST00000466173	ensembl	human	known	69_37n	rna	20	36.84	14	DEL	0.001	-
UBAP2L	9898	genome.wustl.edu	37	1	154223668	154223668	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:154223668T>C	ENST00000361546.2	+	12	1407	c.1365T>C	c.(1363-1365)ccT>ccC	p.P455P	UBAP2L_ENST00000343815.6_Silent_p.P455P|UBAP2L_ENST00000428931.1_Silent_p.P455P|UBAP2L_ENST00000271877.7_Silent_p.P466P			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	455					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGTCTTCTCCTCTGCCAAGCA	0.547																																						dbGAP											0													104.0	102.0	103.0					1																	154223668		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1365T>C	1.37:g.154223668T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P455	ENST00000361546.2	37	c.1365	CCDS1063.1	1																																																																																			UBAP2L	-	NULL	ENSG00000143569		0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	203	0.49	1	T	NM_014847		154223668	154223668	+1	no_errors	ENST00000361546	ensembl	human	known	69_37n	silent	211	19.39	51	SNP	0.997	C
UBR5	51366	genome.wustl.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs|UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											2	Deletion - Frameshift(2)	breast(1)|kidney(1)											137.0	130.0	132.0					8																	103289349		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2121fs	ENST00000520539.1	37	c.6360	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	158	0.62	1	T	NM_015902		103289349	103289349	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	frame_shift_del	271	13.56	43	DEL	0.987	-
UGT2A1	10941	genome.wustl.edu	37	4	70455098	70455098	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:70455098delT	ENST00000503640.1	-	6	1631	c.1576delA	c.(1576-1578)agafs	p.R526fs	UGT2A1_ENST00000512704.1_Frame_Shift_Del_p.R482fs|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000514019.1_Frame_Shift_Del_p.R692fs|UGT2A1_ENST00000286604.4_Frame_Shift_Del_p.R526fs|UGT2A2_ENST00000457664.2_Frame_Shift_Del_p.R535fs	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	526					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACCTATTCTCTTTTTTTCTTC	0.323																																						dbGAP											0													30.0	34.0	33.0					4																	70455098		2200	4299	6499	-	-	-	SO:0001589	frameshift_variant	0			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1576delA	4.37:g.70455098delT	ENSP00000424478:p.Arg526fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R535fs	ENST00000503640.1	37	c.1603	CCDS3529.1	4																																																																																			UGT2A1	-	NULL	ENSG00000173610		0.323	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	106	0.00	0	T	NM_006798		70455098	70455098	-1	no_errors	ENST00000457664	ensembl	human	known	69_37n	frame_shift_del	103	17.60	22	DEL	0.933	-
UGT2B4	7363	genome.wustl.edu	37	4	70360966	70360966	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:70360966A>G	ENST00000305107.6	-	1	660	c.614T>C	c.(613-615)aTg>aCg	p.M205T	UGT2B4_ENST00000381096.3_Missense_Mutation_p.M69T|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M205T	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	205					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TATGAAAGTCATTTGGTCACT	0.393																																						dbGAP											0													71.0	70.0	70.0					4																	70360966		2192	4299	6491	-	-	-	SO:0001583	missense	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.614T>C	4.37:g.70360966A>G	ENSP00000305221:p.Met205Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M205T	ENST00000305107.6	37	c.614	CCDS43234.1	4	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424455	0.25639	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.64085	-0.08;-0.08;-0.08	2.4	2.4	0.29515	.	0.000000	0.85682	U	0.000000	D	0.82531	0.5057	H	0.96547	3.84	0.31942	N	0.610769	B;D;D	0.89917	0.299;1.0;1.0	B;D;D	0.91635	0.219;0.996;0.999	D	0.84076	0.0382	10	0.87932	D	0	.	8.3598	0.32353	1.0:0.0:0.0:0.0	.	69;205;205	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	T	205;205;69	ENSP00000421290:M205T;ENSP00000305221:M205T;ENSP00000370486:M69T	ENSP00000305221:M205T	M	-	2	0	UGT2B4	70395555	1.000000	0.71417	0.782000	0.31804	0.099000	0.18886	8.076000	0.89503	1.101000	0.41535	0.248000	0.18094	ATG	UGT2B4	-	pfam_UDP_glucos_trans	ENSG00000156096		0.393	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	170	0.00	0	A	NM_021139		70360966	70360966	-1	no_errors	ENST00000305107	ensembl	human	known	69_37n	missense	193	14.98	34	SNP	1.000	G
ULK4	54986	genome.wustl.edu	37	3	41705172	41705172	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:41705172T>C	ENST00000301831.4	-	30	3459	c.2997A>G	c.(2995-2997)ttA>ttG	p.L999L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	999					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTCAGGTTCTAAAAGAATGT	0.373																																						dbGAP											0													120.0	116.0	117.0					3																	41705172		1855	4097	5952	-	-	-	SO:0001819	synonymous_variant	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2997A>G	3.37:g.41705172T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L999	ENST00000301831.4	37	c.2997	CCDS43071.1	3																																																																																			ULK4	-	superfamily_ARM-type_fold	ENSG00000168038		0.373	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	189	0.00	0	T	XM_929989		41705172	41705172	-1	no_errors	ENST00000301831	ensembl	human	known	69_37n	silent	76	12.64	11	SNP	0.052	C
UMOD	7369	genome.wustl.edu	37	16	20346823	20346823	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:20346823T>C	ENST00000570689.1	-	10	1988	c.1842A>G	c.(1840-1842)tcA>tcG	p.S614S	UMOD_ENST00000396138.4_Silent_p.S663S|UMOD_ENST00000396134.2_Silent_p.S647S|UMOD_ENST00000424589.1_Silent_p.S647S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Silent_p.S614S|UMOD_ENST00000302509.4_Silent_p.S614S			P07911	UROM_HUMAN	uromodulin	614					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAAAGCCCTTGAGACTGTGG	0.468																																						dbGAP											0													95.0	86.0	89.0					16																	20346823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1842A>G	16.37:g.20346823T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.S647	ENST00000570689.1	37	c.1941	CCDS10583.1	16																																																																																			UMOD	-	NULL	ENSG00000169344		0.468	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	83	0.00	0	T			20346823	20346823	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	silent	61	22.78	18	SNP	0.217	C
UNC5D	137970	genome.wustl.edu	37	8	35584038	35584038	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:35584038C>T	ENST00000404895.2	+	10	2000	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S	UNC5D_ENST00000287272.2_Missense_Mutation_p.P489S|UNC5D_ENST00000416672.1_Missense_Mutation_p.P563S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P553S|UNC5D_ENST00000449677.1_Missense_Mutation_p.P134S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P491S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	558	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTAGTAATGCCAAATACAGG	0.393																																						dbGAP											0													156.0	159.0	158.0					8																	35584038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1672C>T	8.37:g.35584038C>T	ENSP00000385143:p.Pro558Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.P558S	ENST00000404895.2	37	c.1672	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525512	0.85600	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.71	5.71	0.89125	ZU5 (2);	0.144210	0.64402	D	0.000005	T	0.68375	0.2994	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	T	0.70883	-0.4751	10	0.87932	D	0	-14.0505	19.8493	0.96733	0.0:1.0:0.0:0.0	.	134;563;553;558	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	S	558;491;489;563;553;134	ENSP00000385143:P558S;ENSP00000392739:P491S;ENSP00000287272:P489S;ENSP00000412652:P563S;ENSP00000394303:P553S;ENSP00000397211:P134S	ENSP00000287272:P489S	P	+	1	0	UNC5D	35703580	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.062000	0.76706	2.701000	0.92244	0.563000	0.77884	CCA	UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.393	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	299	0.00	0	C			35584038	35584038	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	184	35.21	100	SNP	1.000	T
UNC79	57578	genome.wustl.edu	37	14	94088694	94088694	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:94088694G>A	ENST00000393151.2	+	30	5115	c.5115G>A	c.(5113-5115)caG>caA	p.Q1705Q	UNC79_ENST00000256339.4_Silent_p.Q1528Q|UNC79_ENST00000553484.1_Silent_p.Q1727Q|UNC79_ENST00000555664.1_Silent_p.Q1705Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1705					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAAATAATCAGTCAGCAGGGA	0.527																																						dbGAP											0													66.0	69.0	68.0					14																	94088694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5115G>A	14.37:g.94088694G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.Q1727	ENST00000393151.2	37	c.5181		14																																																																																			UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.527	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	404	0.00	0	G	XM_028395		94088694	94088694	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	silent	252	23.33	77	SNP	0.000	A
UPB1	51733	genome.wustl.edu	37	22	24911232	24911232	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr22:24911232G>A	ENST00000326010.5	+	6	1029	c.685G>A	c.(685-687)Gcg>Acg	p.A229T	AP000355.2_ENST00000432032.1_RNA|UPB1_ENST00000413389.2_Missense_Mutation_p.A161T	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	229	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGGAAGGATCGCGGTGAACAT	0.557																																						dbGAP											0													138.0	112.0	121.0					22																	24911232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.685G>A	22.37:g.24911232G>A	ENSP00000324343:p.Ala229Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMF8|Q9UIR3	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.A229T	ENST00000326010.5	37	c.685	CCDS13827.1	22	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530394	0.85706	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.86562	-2.14;-2.14	5.11	5.11	0.69529	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.098967	0.64402	D	0.000001	D	0.95357	0.8493	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.946	D	0.96409	0.9303	10	0.87932	D	0	-14.9747	17.7088	0.88316	0.0:0.0:1.0:0.0	.	229;161	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	T	161;229	ENSP00000406057:A161T;ENSP00000324343:A229T	ENSP00000324343:A229T	A	+	1	0	UPB1	23241232	1.000000	0.71417	0.319000	0.25293	0.306000	0.27790	9.007000	0.93597	2.663000	0.90544	0.650000	0.86243	GCG	UPB1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000100024		0.557	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPB1	HGNC	protein_coding	OTTHUMT00000319869.1	110	0.00	0	G			24911232	24911232	+1	no_errors	ENST00000326010	ensembl	human	known	69_37n	missense	73	29.13	30	SNP	0.999	A
UPF3A	65110	genome.wustl.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																						dbGAP											0									,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	-	-	-	SO:0001589	frameshift_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	pfam_Nonsense_mediated_decay_UPF3	p.E267fs	ENST00000375299.3	37	c.790	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	87	0.00	0	A			115057211	115057211	+1	no_errors	ENST00000375299	ensembl	human	known	69_37n	frame_shift_del	43	51.11	46	DEL	0.943	-
UPK1A	11045	genome.wustl.edu	37	19	36166880	36166880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:36166880G>T	ENST00000222275.2	+	5	607	c.607G>T	c.(607-609)Gag>Tag	p.E203*	UPK1A_ENST00000379013.2_Nonsense_Mutation_p.E203*|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	203					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCAACGAGGAGGGCTGCCG	0.627																																						dbGAP											0													59.0	57.0	58.0					19																	36166880		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.607G>T	19.37:g.36166880G>T	ENSP00000222275:p.Glu203*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU5|Q3KNU6	Nonsense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E203*	ENST00000222275.2	37	c.607	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294113	0.60086	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	.	.	.	4.98	4.98	0.66077	.	0.414666	0.24254	N	0.040159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	0.2665	11.6049	0.51026	0.0:0.1803:0.8197:0.0	.	.	.	.	X	203	.	ENSP00000222275:E203X	E	+	1	0	UPK1A	40858720	1.000000	0.71417	0.966000	0.40874	0.650000	0.38633	3.557000	0.53741	2.315000	0.78130	0.549000	0.68633	GAG	UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000105668		0.627	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	21	0.00	0	G			36166880	36166880	+1	no_errors	ENST00000379013	ensembl	human	known	69_37n	nonsense	4	71.43	10	SNP	0.951	T
USP25	29761	genome.wustl.edu	37	21	17203783	17203783	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr21:17203783G>A	ENST00000285679.6	+	16	2197	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	USP25_ENST00000285681.2_Missense_Mutation_p.A610T|USP25_ENST00000400183.2_Missense_Mutation_p.A610T|USP25_ENST00000351097.5_Intron	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	610	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCACTACTGGGCATATATTTT	0.393																																						dbGAP											0													150.0	148.0	149.0					21																	17203783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1828G>A	21.37:g.17203783G>A	ENSP00000285679:p.Ala610Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.A610T	ENST00000285679.6	37	c.1828	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.307592	0.95629	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.76839	-1.05;-1.05;-1.05	4.87	4.87	0.63330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.999;1.0;0.996	D	0.89179	0.3542	10	0.59425	D	0.04	-15.2678	18.887	0.92383	0.0:0.0:1.0:0.0	.	610;610;610	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	T	610	ENSP00000285681:A610T;ENSP00000285679:A610T;ENSP00000383044:A610T	ENSP00000285679:A610T	A	+	1	0	USP25	16125654	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.628000	0.89032	0.655000	0.94253	GCA	USP25	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000155313		0.393	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	194	0.00	0	G			17203783	17203783	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	missense	137	22.03	39	SNP	1.000	A
USP35	57558	genome.wustl.edu	37	11	77920856	77920856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:77920856delC	ENST00000529308.1	+	10	2216	c.1955delC	c.(1954-1956)accfs	p.T652fs	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Del_p.T383fs|USP35_ENST00000441408.2_Frame_Shift_Del_p.T238fs|USP35_ENST00000530267.1_Frame_Shift_Del_p.T220fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	652	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACAGAGGACACCCCCCCCACC	0.612																																						dbGAP											0										36,30,3568		2,0,32,2,26,1755	42.0	53.0	50.0			0.7	0.0	11		51	50,152,7638		3,0,44,30,92,3751	no	codingComplex	USP35	NM_020798.2		5,0,76,32,118,5506	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5765,1.8162,2.3357			77920856	86,182,11206	1917	4120	6037	-	-	-	SO:0001589	frameshift_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1955delC	11.37:g.77920856delC	ENSP00000431876:p.Thr652fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.T655fs	ENST00000529308.1	37	c.1955	CCDS41693.1	11																																																																																			USP35	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000118369		0.612	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	75	0.00	0	C	XM_290527		77920856	77920856	+1	no_errors	ENST00000529308	ensembl	human	known	69_37n	frame_shift_del	72	32.08	34	DEL	0.000	-
USP37	57695	genome.wustl.edu	37	2	219423359	219423359	+	Missense_Mutation	SNP	T	T	C	rs542019194		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:219423359T>C	ENST00000258399.3	-	4	430	c.18A>G	c.(16-18)atA>atG	p.I6M	USP37_ENST00000454775.1_Missense_Mutation_p.I6M|USP37_ENST00000415516.1_Intron|USP37_ENST00000338465.5_Missense_Mutation_p.I6M|USP37_ENST00000418019.1_Missense_Mutation_p.I6M	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	6					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TAGGACCATGTATCTTCAGAG	0.338													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18285	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													134.0	144.0	141.0					2																	219423359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.18A>G	2.37:g.219423359T>C	ENSP00000258399:p.Ile6Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.I6M	ENST00000258399.3	37	c.18	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	18.28	3.590281	0.66105	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019;ENST00000338465	T;T;T;T	0.55930	0.56;0.56;0.56;0.49	6.06	3.53	0.40419	.	0.188404	0.50627	D	0.000108	T	0.51550	0.1681	L	0.27053	0.805	0.30021	N	0.814334	D;P	0.62365	0.991;0.808	D;B	0.63381	0.914;0.291	T	0.51403	-0.8710	10	0.72032	D	0.01	-18.2585	5.5733	0.17208	0.0:0.131:0.2927:0.5763	.	6;6	Q86W68;Q86T82	.;UBP37_HUMAN	M	6	ENSP00000258399:I6M;ENSP00000393662:I6M;ENSP00000396585:I6M;ENSP00000345043:I6M	ENSP00000258399:I6M	I	-	3	3	USP37	219131603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.391000	0.20784	1.077000	0.40990	0.528000	0.53228	ATA	USP37	-	NULL	ENSG00000135913		0.338	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	214	0.00	0	T	NM_020935		219423359	219423359	-1	no_errors	ENST00000258399	ensembl	human	known	69_37n	missense	207	32.35	99	SNP	1.000	C
USP38	84640	genome.wustl.edu	37	4	144106826	144106826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:144106826G>T	ENST00000307017.4	+	1	729	c.223G>T	c.(223-225)Gag>Tag	p.E75*	USP38_ENST00000510377.1_Nonsense_Mutation_p.E75*|RP11-284M14.1_ENST00000507826.1_RNA|RP11-284M14.1_ENST00000507486.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	75					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCACCGGCCAGAGTTCGAGTC	0.592																																						dbGAP											0													102.0	78.0	86.0					4																	144106826		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.223G>T	4.37:g.144106826G>T	ENSP00000303434:p.Glu75*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E75*	ENST00000307017.4	37	c.223	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	43	10.355547	0.99390	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	.	.	.	5.3	5.3	0.74995	.	0.061391	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.9926	19.1462	0.93469	0.0:0.0:1.0:0.0	.	.	.	.	X	75	.	ENSP00000303434:E75X	E	+	1	0	USP38	144326276	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.628000	0.83189	2.758000	0.94735	0.561000	0.74099	GAG	USP38	-	NULL	ENSG00000170185		0.592	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	41	0.00	0	G	NM_032557		144106826	144106826	+1	no_errors	ENST00000307017	ensembl	human	known	69_37n	nonsense	19	24.00	6	SNP	0.999	T
USP49	25862	genome.wustl.edu	37	6	41767668	41767668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:41767668G>A	ENST00000394253.3	-	5	1899	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	USP49_ENST00000373010.1_Nonsense_Mutation_p.R524*|USP49_ENST00000373009.3_Nonsense_Mutation_p.R524*|USP49_ENST00000373006.1_Nonsense_Mutation_p.R524*|USP49_ENST00000297229.2_Nonsense_Mutation_p.R524*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	524	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGGATTTTCGTCGTTTGCCT	0.433																																						dbGAP											0													196.0	182.0	187.0					6																	41767668		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1570C>T	6.37:g.41767668G>A	ENSP00000377797:p.Arg524*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R524*	ENST00000394253.3	37	c.1570		6	.	.	.	.	.	.	.	.	.	.	G	40	8.030610	0.98619	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.67	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1102	9.2025	0.37268	0.0736:0.0:0.7818:0.1446	.	.	.	.	X	524	.	ENSP00000297229:R524X	R	-	1	2	USP49	41875646	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.391000	0.66266	1.416000	0.47057	0.655000	0.94253	CGA	USP49	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000164663		0.433	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	USP49	HGNC	protein_coding	OTTHUMT00000316513.3	112	0.00	0	G	NM_018561		41767668	41767668	-1	no_errors	ENST00000373009	ensembl	human	known	69_37n	nonsense	60	15.49	11	SNP	1.000	A
UTP14A	10813	genome.wustl.edu	37	X	129053403	129053403	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:129053403T>C	ENST00000394422.3	+	8	718	c.690T>C	c.(688-690)gcT>gcC	p.A230A	UTP14A_ENST00000425117.2_Silent_p.A178A|UTP14A_ENST00000371042.3_Silent_p.A62A|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.A176A	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	230					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCAGAGGGCTCGGGCTCTGC	0.522																																						dbGAP											0													91.0	87.0	88.0					X																	129053403		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.690T>C	X.37:g.129053403T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	pfam_SSU_processome_Utp14	p.A230	ENST00000394422.3	37	c.690	CCDS14615.1	X																																																																																			UTP14A	-	pfam_SSU_processome_Utp14	ENSG00000156697		0.522	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	131	0.00	0	T	NM_006649		129053403	129053403	+1	no_errors	ENST00000394422	ensembl	human	known	69_37n	silent	55	25.68	19	SNP	1.000	C
UTRN	7402	genome.wustl.edu	37	6	144780370	144780370	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:144780370T>C	ENST00000367545.3	+	20	2587	c.2587T>C	c.(2587-2589)Tcg>Ccg	p.S863P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	863	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCAAGCTGCTCGGCCCTGAT	0.512																																						dbGAP											0													71.0	66.0	68.0					6																	144780370		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2587T>C	6.37:g.144780370T>C	ENSP00000356515:p.Ser863Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.S863P	ENST00000367545.3	37	c.2587	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	T	7.370	0.626593	0.14257	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.35421	1.31	5.44	1.61	0.23674	.	1.666150	0.03754	N	0.257071	T	0.09642	0.0237	N	0.24115	0.695	0.30888	N	0.730711	B	0.29508	0.246	B	0.21917	0.037	T	0.08554	-1.0716	10	0.30854	T	0.27	.	6.942	0.24498	0.1306:0.0:0.3044:0.565	.	863	P46939	UTRO_HUMAN	P	863	ENSP00000356515:S863P	ENSP00000356499:S863P	S	+	1	0	UTRN	144822063	0.233000	0.23772	0.417000	0.26559	0.358000	0.29455	0.654000	0.24918	0.994000	0.38892	0.528000	0.53228	TCG	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.512	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	112	0.00	0	T			144780370	144780370	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	79	17.71	17	SNP	0.070	C
UXS1	80146	genome.wustl.edu	37	2	106717538	106717538	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:106717538G>A	ENST00000409501.3	-	12	1002	c.945C>T	c.(943-945)agC>agT	p.S315S	UXS1_ENST00000409032.1_Silent_p.S147S|UXS1_ENST00000540130.1_Silent_p.S258S|UXS1_ENST00000283148.7_Silent_p.S320S|UXS1_ENST00000428048.2_Silent_p.S159S			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	315					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TGCTGACGTTGCTGTTCATGA	0.557																																						dbGAP											0													93.0	97.0	96.0					2																	106717538		2100	4247	6347	-	-	-	SO:0001819	synonymous_variant	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.945C>T	2.37:g.106717538G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBX3|Q9H5C2	Silent	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.S320	ENST00000409501.3	37	c.960	CCDS46378.1	2																																																																																			UXS1	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	ENSG00000115652		0.557	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	63	0.00	0	G	NM_025076.3		106717538	106717538	-1	no_errors	ENST00000283148	ensembl	human	known	69_37n	silent	52	20.00	13	SNP	1.000	A
VAMP3	9341	genome.wustl.edu	37	1	7838211	7838212	+	In_Frame_Ins	INS	-	-	TCA			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:7838211_7838212insTCA	ENST00000054666.6	+	4	380_381	c.265_266insTCA	c.(265-267)ttc>tTCAtc	p.94_95insI	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Ins_p.66_67insI	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.F89I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGGTTATCTTCATCATCATC	0.366																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)								0,4266		0,0,2133						0.4	1.0			264	2,8252		0,2,4125	no	coding	VAMP3	NM_004781.3		0,2,6258	A1A1,A1R,RR		0.0242,0.0,0.016				2,12518				-	-	-	SO:0001652	inframe_insertion	0			BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.278_280dupTCA	1.37:g.7838218_7838220dupTCA	ENSP00000054666:p.Ile94_Ile94dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRV4	In_Frame_Ins	INS	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin	p.93in_frame_insI	ENST00000054666.6	37	c.265_266	CCDS88.1	1																																																																																			VAMP3	-	pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin	ENSG00000049245		0.366	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP3	HGNC	protein_coding	OTTHUMT00000003625.1	106	0.00	0	-	NM_004781		7838211	7838212	+1	no_errors	ENST00000054666	ensembl	human	known	69_37n	in_frame_ins	60	16.67	12	INS	0.993:1.000	TCA
VANGL2	57216	genome.wustl.edu	37	1	160395031	160395031	+	Missense_Mutation	SNP	G	G	A	rs372488057		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:160395031G>A	ENST00000368061.2	+	8	1903	c.1429G>A	c.(1429-1431)Gtt>Att	p.V477I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	477					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGGCATCGTTTTCCTCTT	0.542																																						dbGAP											0													93.0	80.0	85.0					1																	160395031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1429G>A	1.37:g.160395031G>A	ENSP00000357040:p.Val477Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.V477I	ENST00000368061.2	37	c.1429	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083954	0.55861	.	.	ENSG00000162738	ENST00000368061	T	0.81163	-1.46	4.17	3.26	0.37387	.	0.157867	0.41823	D	0.000819	T	0.79569	0.4468	L	0.54908	1.71	0.45108	D	0.998126	D	0.76494	0.999	D	0.74674	0.984	T	0.76526	-0.2927	10	0.20519	T	0.43	-1.2186	12.1885	0.54254	0.0:0.0:0.8274:0.1726	.	477	Q9ULK5	VANG2_HUMAN	I	477	ENSP00000357040:V477I	ENSP00000357040:V477I	V	+	1	0	VANGL2	158661655	1.000000	0.71417	0.943000	0.38184	0.910000	0.53928	7.703000	0.84585	0.946000	0.37632	-0.188000	0.12872	GTT	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.542	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	131	0.00	0	G	NM_020335		160395031	160395031	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	missense	127	15.33	23	SNP	0.986	A
VARS2	57176	genome.wustl.edu	37	6	30892268	30892268	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr6:30892268G>A	ENST00000321897.5	+	25	3236	c.2604G>A	c.(2602-2604)ctG>ctA	p.L868L	VARS2_ENST00000542001.1_Silent_p.L728L|VARS2_ENST00000416670.2_Silent_p.L868L|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.L898L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	868					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGCAGAGGCTGCCCCCCAGGC	0.692																																						dbGAP											0													21.0	27.0	25.0					6																	30892268		1508	2708	4216	-	-	-	SO:0001819	synonymous_variant	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2604G>A	6.37:g.30892268G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase	p.L898	ENST00000321897.5	37	c.2694	CCDS34387.1	6																																																																																			VARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_synthetase	ENSG00000137411		0.692	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	17	0.00	0	G	NM_020442		30892268	30892268	+1	no_errors	ENST00000541562	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	1.000	A
VAV2	7410	genome.wustl.edu	37	9	136635569	136635569	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:136635569C>T	ENST00000371850.3	-	27	2309	c.2278G>A	c.(2278-2280)Gac>Aac	p.D760N	VAV2_ENST00000371851.1_Missense_Mutation_p.D750N|VAV2_ENST00000406606.3_Missense_Mutation_p.D750N	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	760	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		AGTGTGGTGTCCAGCTGCTTG	0.627																																						dbGAP											0													172.0	129.0	144.0					9																	136635569		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2278G>A	9.37:g.136635569C>T	ENSP00000360916:p.Asp760Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.D760N	ENST00000371850.3	37	c.2278	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.287994	0.95517	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.26067	1.76;1.76;1.76	4.47	4.47	0.54385	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	L	0.46947	1.48	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.987	D;D;D	0.97110	1.0;0.997;0.988	T	0.22173	-1.0224	10	0.34782	T	0.22	.	16.1158	0.81304	0.0:1.0:0.0:0.0	.	750;760;750	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	N	760;750;750;750	ENSP00000360916:D760N;ENSP00000360917:D750N;ENSP00000385362:D750N	ENSP00000317258:D750N	D	-	1	0	VAV2	135625390	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.456000	0.80751	2.026000	0.59711	0.462000	0.41574	GAC	VAV2	-	pfscan_SH2	ENSG00000160293		0.627	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	44	0.00	0	C			136635569	136635569	-1	no_errors	ENST00000371850	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
VPS11	55823	genome.wustl.edu	37	11	118949892	118949892	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:118949892T>C	ENST00000300793.6	+	15	2359	c.2317T>C	c.(2317-2319)Tac>Cac	p.Y773H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	774					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CATCAGGGACTACCTGGTCCA	0.572																																						dbGAP											0													37.0	40.0	39.0					11																	118949892		2107	4230	6337	-	-	-	SO:0001583	missense	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2317T>C	11.37:g.118949892T>C	ENSP00000475301:p.Tyr773His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.572	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		52	0.00	0	T	NM_021729		118949892	118949892	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	19	36.67	11	SNP	1.000	C
VPS13B	157680	genome.wustl.edu	37	8	100791209	100791209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:100791209G>T	ENST00000358544.2	+	42	7915	c.7804G>T	c.(7804-7806)Gga>Tga	p.G2602*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.G2577*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2602					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTAAACCTTGGACAGCATGT	0.428																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													129.0	105.0	113.0					8																	100791209		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7804G>T	8.37:g.100791209G>T	ENSP00000351346:p.Gly2602*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.G2602*	ENST00000358544.2	37	c.7804	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	48	14.213773	0.99785	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.54	5.54	0.83059	.	0.059383	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4733	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	X	2577;2602	.	ENSP00000349685:G2577X	G	+	1	0	VPS13B	100860385	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	6.459000	0.73513	2.609000	0.88269	0.655000	0.94253	GGA	VPS13B	-	NULL	ENSG00000132549		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	121	0.00	0	G	NM_184042		100791209	100791209	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	nonsense	137	16.97	28	SNP	1.000	T
VPS35	55737	genome.wustl.edu	37	16	46696915	46696915	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:46696915C>T	ENST00000299138.7	-	14	1865	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	603					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AATTCATATGCGACTGTCTCA	0.453																																						dbGAP											0													104.0	83.0	90.0					16																	46696915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1807G>A	16.37:g.46696915C>T	ENSP00000299138:p.Ala603Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.A603T	ENST00000299138.7	37	c.1807	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	.	29.4	5.002927	0.93287	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.47528	0.84	5.45	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.79784	0.993;0.507	T	0.66532	-0.5900	10	0.45353	T	0.12	-19.5042	14.5925	0.68378	0.0:0.9286:0.0:0.0714	.	603;468	Q96QK1;F5GYF5	VPS35_HUMAN;.	T	603;468	ENSP00000299138:A603T	ENSP00000299138:A603T	A	-	1	0	VPS35	45254416	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.783000	0.62403	2.554000	0.86153	0.561000	0.74099	GCA	VPS35	-	pfam_VPS35,superfamily_ARM-type_fold	ENSG00000069329		0.453	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	83	0.00	0	C			46696915	46696915	-1	no_errors	ENST00000299138	ensembl	human	known	69_37n	missense	41	47.44	37	SNP	1.000	T
WASF3	10810	genome.wustl.edu	37	13	27255387	27255387	+	Frame_Shift_Del	DEL	C	C	-	rs529756888	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:27255387delC	ENST00000335327.5	+	8	1091	c.913delC	c.(913-915)cccfs	p.P310fs	WASF3_ENST00000361042.4_Frame_Shift_Del_p.P307fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	310	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAGCAGCCGCCCCCCCCGCC	0.682																																						dbGAP											0													25.0	33.0	31.0					13																	27255387		2202	4293	6495	-	-	-	SO:0001589	frameshift_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.913delC	13.37:g.27255387delC	ENSP00000335055:p.Pro310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94974|Q86VQ2	Frame_Shift_Del	DEL	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P307fs	ENST00000335327.5	37	c.913	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.682	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	48	0.00	0	C			27255387	27255387	+1	no_errors	ENST00000335327	ensembl	human	known	69_37n	frame_shift_del	43	24.19	15	DEL	0.975	-
CFAP44	55779	genome.wustl.edu	37	3	113082076	113082077	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:113082076_113082077delCT	ENST00000295868.2	-	21	3011_3012	c.2849_2850delAG	c.(2848-2850)gagfs	p.E950fs	WDR52_ENST00000393845.2_Frame_Shift_Del_p.E950fs	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCCG	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000295868.2:c.2849_2850delAG	3.37:g.113082082_113082083delCT	ENSP00000295868:p.Glu950fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E950fs	ENST00000295868.2	37	c.2850_2849	CCDS2972.1	3																																																																																			WDR52	-	NULL	ENSG00000206530		0.317	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	214	0.00	0	CT			113082076	113082077	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	frame_shift_del	232	14.80	41	DEL	0.017:0.961	-
WDR54	84058	genome.wustl.edu	37	2	74652808	74652808	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:74652808C>T	ENST00000348227.4	+	10	1073	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	WDR54_ENST00000409791.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	329										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TGCGGAGATCCGGAGATTCAG	0.517																																						dbGAP											0													158.0	149.0	152.0					2																	74652808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.985C>T	2.37:g.74652808C>T	ENSP00000006526:p.Arg329Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R329W	ENST00000348227.4	37	c.985	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	C	7.418	0.636196	0.14386	.	.	ENSG00000005448	ENST00000348227	.	.	.	4.74	2.95	0.34219	.	0.401252	0.23591	N	0.046555	T	0.16854	0.0405	N	0.08118	0	0.26378	N	0.976781	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	9	0.33940	T	0.23	-3.8018	7.0122	0.24869	0.0:0.7952:0.0:0.2048	.	329	Q9H977	WDR54_HUMAN	W	329	.	ENSP00000006526:R329W	R	+	1	2	WDR54	74506316	0.996000	0.38824	1.000000	0.80357	0.249000	0.25844	0.107000	0.15375	0.630000	0.30394	-0.140000	0.14226	CGG	WDR54	-	NULL	ENSG00000005448		0.517	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	176	0.00	0	C	NM_032118		74652808	74652808	+1	no_errors	ENST00000348227	ensembl	human	known	69_37n	missense	97	11.71	13	SNP	1.000	T
WDR60	55112	genome.wustl.edu	37	7	158672483	158672483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:158672483C>T	ENST00000407559.3	+	5	840	c.682C>T	c.(682-684)Cga>Tga	p.R228*		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	228					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CAACAAACACCGAGAAAAAAG	0.433																																						dbGAP											0													69.0	76.0	74.0					7																	158672483		1859	4099	5958	-	-	-	SO:0001587	stop_gained	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.682C>T	7.37:g.158672483C>T	ENSP00000384290:p.Arg228*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NW58	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R228*	ENST00000407559.3	37	c.682	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228356	0.79576	.	.	ENSG00000126870	ENST00000407559	.	.	.	4.64	2.67	0.31697	.	0.747360	0.11956	N	0.513264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8034	10.3591	0.43982	0.3464:0.6536:0.0:0.0	.	.	.	.	X	228	.	ENSP00000384290:R228X	R	+	1	2	WDR60	158365244	0.001000	0.12720	0.012000	0.15200	0.298000	0.27526	-0.007000	0.12810	1.051000	0.40369	0.650000	0.86243	CGA	WDR60	-	NULL	ENSG00000126870		0.433	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	241	0.00	0	C	NM_018051		158672483	158672483	+1	no_errors	ENST00000407559	ensembl	human	known	69_37n	nonsense	193	27.72	74	SNP	0.012	T
WDR7	23335	genome.wustl.edu	37	18	54354207	54354207	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:54354207T>C	ENST00000254442.3	+	7	928		c.e7+2		WDR7_ENST00000357574.3_Splice_Site|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TATTGGAGGGTAAGATAATTA	0.333																																						dbGAP											0													57.0	57.0	57.0					18																	54354207		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.717+2T>C	18.37:g.54354207T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Splice_Site	SNP	-	e6+2	ENST00000254442.3	37	c.717+2	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230149	0.79688	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7791	0.69751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR7	52505205	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.614000	0.82996	2.021000	0.59480	0.528000	0.53228	.	WDR7	-	-	ENSG00000091157		0.333	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	42	0	0	T		Intron	54354207	54354207	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	splice_site	34	39.66	23	SNP	1.000	C
WDR7	23335	genome.wustl.edu	37	18	54354207	54354207	+	Splice_Site	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr18:54354207T>C	ENST00000254442.3	+	7	928		c.e7+2		WDR7_ENST00000357574.3_Splice_Site|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TATTGGAGGGTAAGATAATTA	0.333																																						dbGAP											0													57.0	57.0	57.0					18																	54354207		2200	4296	6496	-	-	-	SO:0001630	splice_region_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.717+2T>C	18.37:g.54354207T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Splice_Site	SNP	-	e6+2	ENST00000254442.3	37	c.717+2	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230149	0.79688	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7791	0.69751	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR7	52505205	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.614000	0.82996	2.021000	0.59480	0.528000	0.53228	.	WDR7	-	-	ENSG00000091157		0.333	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	42	0.00	0	T		Intron	54354207	54354207	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	splice_site	34	39.66	23	SNP	1.000	C
WDTC1	23038	genome.wustl.edu	37	1	27631480	27631480	+	Intron	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:27631480delC	ENST00000319394.3	+	15	2178				WDTC1_ENST00000361771.3_Intron	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1						cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGCCCTTTGCCCCCCCGCCA	0.587																																						dbGAP											0													37.0	33.0	35.0					1																	27631480		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1644-12C>-	1.37:g.27631480delC		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	RNA	DEL	-	NULL	ENST00000319394.3	37	NULL		1																																																																																			WDTC1	-	-	ENSG00000142784		0.587	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		62	0.00	0	C	NM_015023		27631480	27631480	+1	no_errors	ENST00000491239	ensembl	human	known	69_37n	rna	55	12.50	8	DEL	0.309	-
WEE2	494551	genome.wustl.edu	37	7	141418904	141418904	+	Silent	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:141418904C>A	ENST00000397541.2	+	4	1024	c.618C>A	c.(616-618)tcC>tcA	p.S206S	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000465110.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	206					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACATGGCTTCCCGCTATGAAA	0.343																																						dbGAP											0													105.0	103.0	104.0					7																	141418904		1808	4066	5874	-	-	-	SO:0001819	synonymous_variant	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.618C>A	7.37:g.141418904C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.S206	ENST00000397541.2	37	c.618	CCDS43660.1	7																																																																																			WEE2	-	superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase	ENSG00000214102		0.343	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	156	0.00	0	C	NM_001105558		141418904	141418904	+1	no_errors	ENST00000397541	ensembl	human	known	69_37n	silent	126	30.77	56	SNP	1.000	A
WFS1	7466	genome.wustl.edu	37	4	6303118	6303118	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:6303118G>A	ENST00000226760.1	+	8	1766	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	WFS1_ENST00000503569.1_Silent_p.V532V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	532					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTACCTTGTGCCCTACCTGG	0.587																																						dbGAP											0													114.0	106.0	109.0					4																	6303118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1596G>A	4.37:g.6303118G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	NULL	p.V532	ENST00000226760.1	37	c.1596	CCDS3386.1	4																																																																																			WFS1	-	NULL	ENSG00000109501		0.587	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	54	0.00	0	G			6303118	6303118	+1	no_errors	ENST00000226760	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	0.991	A
WNK4	65266	genome.wustl.edu	37	17	40947959	40947961	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:40947959_40947961delCTC	ENST00000246914.5	+	16	3360_3362	c.3339_3341delCTC	c.(3337-3342)tactcc>tac	p.S1114del	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1114					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGATGAACTACTCCTACAGCAGC	0.586																																					Esophageal Squamous(6;201 374 4964 23855 42828)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3339_3341delCTC	17.37:g.40947959_40947961delCTC	ENSP00000246914:p.Ser1114del	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1114in_frame_del	ENST00000246914.5	37	c.3339_3341	CCDS11439.1	17																																																																																			WNK4	-	NULL	ENSG00000126562		0.586	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	46	0.00	0	CTC			40947959	40947961	+1	no_errors	ENST00000246914	ensembl	human	known	69_37n	in_frame_del	38	11.63	5	DEL	1.000:0.999:0.998	-
XDH	7498	genome.wustl.edu	37	2	31588950	31588951	+	Frame_Shift_Ins	INS	-	-	C	rs138717520		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:31588950_31588951insC	ENST00000379416.3	-	22	2395_2396	c.2347_2348insG	c.(2347-2349)gttfs	p.V783fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	783					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTTTGCTGGAACCCCCAACATT	0.525																																					Colon(66;682 1445 30109 40147)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2348dupG	2.37:g.31588955_31588955dupC	ENSP00000368727:p.Val783fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16681|Q16712|Q4PJ16	Frame_Shift_Ins	INS	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.V783fs	ENST00000379416.3	37	c.2348_2347	CCDS1775.1	2																																																																																			XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.525	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	169	0.00	0	-	NM_000379		31588950	31588951	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	frame_shift_ins	138	14.81	24	INS	0.997:0.996	C
XIRP2	129446	genome.wustl.edu	37	2	167760086	167760086	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:167760086C>A	ENST00000409728.1	+	2	183	c.94C>A	c.(94-96)Cat>Aat	p.H32N	XIRP2_ENST00000295237.9_Missense_Mutation_p.H32N|XIRP2_ENST00000420519.1_Missense_Mutation_p.H32N|XIRP2_ENST00000409043.1_Missense_Mutation_p.H32N|XIRP2_ENST00000409195.1_Missense_Mutation_p.H32N|XIRP2_ENST00000409756.2_Missense_Mutation_p.H32N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2429					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGGACAGCCATTGTACAAT	0.498																																						dbGAP											0													69.0	68.0	68.0					2																	167760086		1930	4140	6070	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.94C>A	2.37:g.167760086C>A	ENSP00000386619:p.His32Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.H32N	ENST00000409728.1	37	c.94	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258274	0.23051	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79352	-1.25;-1.26;4.1;-1.25;-1.26;4.1	5.36	4.48	0.54585	.	.	.	.	.	T	0.69133	0.3077	.	.	.	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.20955	0.032;0.032	T	0.61058	-0.7139	8	0.54805	T	0.06	4.0083	9.8716	0.41177	0.0:0.9051:0.0:0.0949	.	32;32	A4UGR9-4;A4UGR9-6	.;.	N	32	ENSP00000386454:H32N;ENSP00000386619:H32N;ENSP00000386840:H32N;ENSP00000386724:H32N;ENSP00000415541:H32N;ENSP00000295237:H32N	ENSP00000295237:H32N	H	+	1	0	XIRP2	167468332	0.023000	0.18921	0.006000	0.13384	0.003000	0.03518	2.346000	0.44027	1.256000	0.44068	0.655000	0.94253	CAT	XIRP2	-	NULL	ENSG00000163092		0.498	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	95	0.00	0	C	NM_152381		167760086	167760086	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	95	15.18	17	SNP	0.016	A
XIRP2	129446	genome.wustl.edu	37	2	168103264	168103264	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:168103264A>G	ENST00000409195.1	+	9	5451	c.5362A>G	c.(5362-5364)Aca>Gca	p.T1788A	XIRP2_ENST00000409273.1_Missense_Mutation_p.T1566A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1788A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1613					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTTGAAGGTACAAAACTGTT	0.383																																						dbGAP											0													180.0	172.0	175.0					2																	168103264		1936	4139	6075	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5362A>G	2.37:g.168103264A>G	ENSP00000386840:p.Thr1788Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.T1788A	ENST00000409195.1	37	c.5362	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219999	0.58560	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03152	4.03;4.03;4.03	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.01800	-1.1271	10	0.39692	T	0.17	-17.7527	14.7546	0.69554	1.0:0.0:0.0:0.0	.	1613;1613;1566	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	1788;1788;1566	ENSP00000386840:T1788A;ENSP00000295237:T1788A;ENSP00000387255:T1566A	ENSP00000295237:T1788A	T	+	1	0	XIRP2	167811510	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.974000	0.76122	2.134000	0.65973	0.528000	0.53228	ACA	XIRP2	-	NULL	ENSG00000163092		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	460	0.00	0	A	NM_152381		168103264	168103264	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	525	15.16	94	SNP	1.000	G
XIRP2	129446	genome.wustl.edu	37	2	168107830	168107830	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:168107830C>G	ENST00000409195.1	+	9	10017	c.9928C>G	c.(9928-9930)Cag>Gag	p.Q3310E	XIRP2_ENST00000409273.1_Missense_Mutation_p.Q3088E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3310E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3135					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q3310E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGCACACACAGAGATATGA	0.453																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											106.0	107.0	107.0					2																	168107830		2011	4188	6199	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9928C>G	2.37:g.168107830C>G	ENSP00000386840:p.Gln3310Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.Q3310E	ENST00000409195.1	37	c.9928	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634629	0.00806	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02301	4.35;4.35;4.35	5.77	2.68	0.31781	.	0.407810	0.29205	N	0.012827	T	0.01489	0.0048	N	0.16307	0.4	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.48779	-0.9005	10	0.09590	T	0.72	-0.1401	9.5876	0.39526	0.2242:0.4781:0.2976:0.0	.	3135;3135;3088	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3310;3310;3088;724	ENSP00000386840:Q3310E;ENSP00000295237:Q3310E;ENSP00000387255:Q3088E	ENSP00000295237:Q3310E	Q	+	1	0	XIRP2	167816076	0.249000	0.23941	0.573000	0.28510	0.103000	0.19146	0.594000	0.24014	0.777000	0.33496	0.585000	0.79938	CAG	XIRP2	-	NULL	ENSG00000163092		0.453	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	313	0.00	0	C	NM_152381		168107830	168107830	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	216	33.02	107	SNP	0.006	G
XIRP2	129446	genome.wustl.edu	37	2	168110571	168110571	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:168110571T>C	ENST00000409195.1	+	10	10674	c.10585T>C	c.(10585-10587)Tat>Cat	p.Y3529H	XIRP2_ENST00000409273.1_Missense_Mutation_p.Y3307H|XIRP2_ENST00000420519.1_Silent_p.C435C|XIRP2_ENST00000295237.9_Missense_Mutation_p.Y3529H|XIRP2_ENST00000409756.2_Silent_p.C402C|XIRP2_ENST00000409605.1_Silent_p.C180C|XIRP2_ENST00000409728.1_Silent_p.C435C|XIRP2_ENST00000409043.1_Silent_p.C402C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3354					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAATATGTATACTTTGTC	0.353																																						dbGAP											0													74.0	71.0	72.0					2																	168110571		1837	4089	5926	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10585T>C	2.37:g.168110571T>C	ENSP00000386840:p.Tyr3529His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.Y3529H	ENST00000409195.1	37	c.10585	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	11.57	1.679293	0.29783	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02301	4.35;4.35;4.35	5.69	2.12	0.27331	.	.	.	.	.	T	0.01092	0.0036	.	.	.	0.31048	N	0.715557	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.41945	-0.9480	8	0.05721	T	0.95	-5.4595	6.8553	0.24038	0.0:0.4897:0.0:0.5103	.	3354;3307	A4UGR9;A4UGR9-2	XIRP2_HUMAN;.	H	3529;3529;3307;943	ENSP00000386840:Y3529H;ENSP00000295237:Y3529H;ENSP00000387255:Y3307H	ENSP00000295237:Y3529H	Y	+	1	0	XIRP2	167818817	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	1.633000	0.37113	0.457000	0.26962	0.460000	0.39030	TAT	XIRP2	-	NULL	ENSG00000163092		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	137	0.00	0	T	NM_152381		168110571	168110571	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	1.000	C
TSIX	9383	genome.wustl.edu	37	X	73042431	73042432	+	lincRNA	INS	-	-	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:73042431_73042432insT	ENST00000604411.1	+	0	30392_30393				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTTCGTCATGATTTTTTTTGTT	0.287																																						dbGAP											0																																										-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042439_73042439dupT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.287	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	46	0.00	0	-	NR_003255		73042431	73042432	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	33	15.38	6	INS	0.005:0.009	T
TSIX	9383	genome.wustl.edu	37	X	73042657	73042657	+	lincRNA	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:73042657G>A	ENST00000604411.1	+	0	30618				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ACTCTACAACGCATGTCAAAG	0.338																																						dbGAP											0													60.0	62.0	62.0					X																	73042657		875	1991	2866	-	-	-			0					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042657G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.338	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	213	0.00	0	G	NR_003255		73042657	73042657	-1	no_errors	ENST00000429829	ensembl	human	known	69_37n	rna	87	32.03	41	SNP	0.001	A
XPA	7507	genome.wustl.edu	37	9	100437634	100437634	+	3'UTR	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:100437634delT	ENST00000375128.4	-	0	973				XPA_ENST00000485042.1_5'UTR	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A						DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				AAGATGTTGCTTTTTTTTTTG	0.264			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.*87A>-	9.37:g.100437634delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1U9|Q6LCW7|Q6LD02	RNA	DEL	-	NULL	ENST00000375128.4	37	NULL	CCDS6729.1	9																																																																																			XPA	-	-	ENSG00000136936		0.264	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPA	HGNC	protein_coding	OTTHUMT00000053332.1	32	0.00	0	T	NM_000380		100437634	100437634	-1	no_errors	ENST00000485042	ensembl	human	known	69_37n	rna	19	44.44	16	DEL	0.004	-
XPC	7508	genome.wustl.edu	37	3	14200022	14200022	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:14200022T>G	ENST00000285021.7	-	9	1575	c.1361A>C	c.(1360-1362)gAt>gCt	p.D454A	XPC_ENST00000449060.2_Missense_Mutation_p.D417A	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	454	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCAGAGGGATCAGAGGCTTC	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													47.0	50.0	49.0					3																	14200022		1568	3582	5150	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1361A>C	3.37:g.14200022T>G	ENSP00000285021:p.Asp454Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.D454A	ENST00000285021.7	37	c.1361	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	T	0.235	-1.018011	0.02078	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.35789	1.29;1.31	4.98	-8.71	0.00848	.	2.039850	0.01565	N	0.020300	T	0.15089	0.0364	N	0.14661	0.345	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.19666	0.026;0.026	T	0.11155	-1.0599	10	0.15952	T	0.53	10.5405	3.0554	0.06182	0.0993:0.3207:0.3056:0.2743	.	417;454	E9PH69;Q01831	.;XPC_HUMAN	A	454;417;44	ENSP00000285021:D454A;ENSP00000404002:D417A	ENSP00000285021:D454A	D	-	2	0	XPC	14175025	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.796000	0.04575	-1.932000	0.01053	0.482000	0.46254	GAT	XPC	-	tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.592	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	179	0.00	0	T	NM_004628		14200022	14200022	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	missense	160	16.67	32	SNP	0.000	G
XPOT	11260	genome.wustl.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											118.0	114.0	115.0					12																	64812755		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.F126fs	ENST00000332707.5	37	c.370	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000184575		0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	60	0.00	0	T	NM_007235		64812755	64812755	+1	no_errors	ENST00000332707	ensembl	human	known	69_37n	frame_shift_del	50	35.06	27	DEL	1.000	-
XYLT2	64132	genome.wustl.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											65.0	65.0	65.0					17																	48433967		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1578delC	17.37:g.48433967delC	ENSP00000017003:p.Tyr526fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UY41|Q86V00	Frame_Shift_Del	DEL	pfam_XylT_met,pfam_Glyco_trans_14	p.G529fs	ENST00000017003.2	37	c.1578	CCDS11563.1	17																																																																																			XYLT2	-	pfam_XylT_met	ENSG00000015532		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	97	0.00	0	C	NM_022167		48433967	48433967	+1	no_errors	ENST00000017003	ensembl	human	known	69_37n	frame_shift_del	40	18.00	9	DEL	1.000	-
YARS	8565	genome.wustl.edu	37	1	33245441	33245441	+	Intron	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:33245441T>C	ENST00000373477.4	-	11	2243				YARS_ENST00000469100.1_Intron	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase						apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ttactagtagtaagacttggg	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1334+244A>G	1.37:g.33245441T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWK4|D3DPQ4|O43276|Q53EN1	RNA	SNP	-	NULL	ENST00000373477.4	37	NULL	CCDS368.1	1																																																																																			YARS	-	-	ENSG00000134684		0.368	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1	35	0.00	0	T	NM_003680		33245441	33245441	-1	no_errors	ENST00000490826	ensembl	human	known	69_37n	rna	25	19.35	6	SNP	0.000	C
YTHDC1	91746	genome.wustl.edu	37	4	69203143	69203143	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:69203143C>T	ENST00000344157.4	-	4	820	c.485G>A	c.(484-486)cGt>cAt	p.R162H	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R162H|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R162H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	162					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCTGCTTGCACGTCTATCCAC	0.438																																						dbGAP											0													84.0	76.0	79.0					4																	69203143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.485G>A	4.37:g.69203143C>T	ENSP00000339245:p.Arg162His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R162H	ENST00000344157.4	37	c.485	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824182	0.71143	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28666	1.77;1.6	5.55	4.71	0.59529	.	0.318635	0.33180	N	0.005189	T	0.41789	0.1174	L	0.27053	0.805	0.42923	D	0.994291	D;P	0.76494	0.999;0.913	D;B	0.80764	0.994;0.198	T	0.31613	-0.9937	10	0.44086	T	0.13	.	14.3332	0.66572	0.0:0.9284:0.0:0.0716	.	162;162	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	162	ENSP00000339245:R162H;ENSP00000347888:R162H	ENSP00000339245:R162H	R	-	2	0	YTHDC1	68885738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.677000	0.54619	1.338000	0.45544	0.460000	0.39030	CGT	YTHDC1	-	NULL	ENSG00000083896		0.438	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	120	0.00	0	C	NM_133370		69203143	69203143	-1	no_errors	ENST00000344157	ensembl	human	known	69_37n	missense	101	16.53	20	SNP	1.000	T
ZAK	51776	genome.wustl.edu	37	2	174085999	174085999	+	Intron	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr2:174085999G>A	ENST00000375213.3	+	11	1065				MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.G269D|MLTK_ENST00000539448.1_Missense_Mutation_p.G370D|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000338983.3_Missense_Mutation_p.G370D	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GAGGGCCATGGCATGAACCCA	0.468																																						dbGAP											0													142.0	143.0	143.0					2																	174085999		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0																														ENST00000375213.3:c.987+4021G>A	2.37:g.174085999G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G370D	ENST00000375213.3	37	c.1109	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167093	0.38217	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;T	0.79033	-0.84;-0.84;-1.23	5.84	5.84	0.93424	.	.	.	.	.	T	0.65491	0.2696	N	0.19112	0.55	0.35254	D	0.779006	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.003	T	0.65869	-0.6063	9	0.31617	T	0.26	.	14.3058	0.66384	0.0705:0.0:0.9295:0.0	.	370;370	A8K710;D4Q8H0	.;.	D	370;370;269	ENSP00000439414:G370D;ENSP00000340257:G370D;ENSP00000399787:G269D	ENSP00000340257:G370D	G	+	2	0	AC013461.1	173794245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.417000	0.66423	2.779000	0.95612	0.655000	0.94253	GGC	AC013461.1	-	NULL	ENSG00000091436		0.468	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	101	0.00	0	G			174085999	174085999	+1	no_errors	ENST00000338983	ensembl	human	known	69_37n	missense	105	13.11	16	SNP	1.000	A
ZBED1	9189	genome.wustl.edu	37	X	2408734	2408734	+	Silent	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:2408734G>T	ENST00000381223.4	-	2	230	c.27C>A	c.(25-27)tcC>tcA	p.S9S	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Silent_p.S9S|ZBED1_ENST00000381218.3_Silent_p.S9S|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	9					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCTGTCTGGGAGCTCTCCA	0.602																																						dbGAP											0													115.0	124.0	121.0					X																	2408734		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.27C>A	X.37:g.2408734G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BY4	Silent	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S9	ENST00000381223.4	37	c.27	CCDS14118.1	X																																																																																			ZBED1	-	NULL	ENSG00000214717		0.602	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	103	0.00	0	G	NM_004729		2408734	2408734	-1	no_errors	ENST00000381218	ensembl	human	known	69_37n	silent	71	11.25	9	SNP	0.004	T
ZBTB1	22890	genome.wustl.edu	37	14	64989362	64989362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:64989362delA	ENST00000554015.1	+	4	1571	c.1140delA	c.(1138-1140)atafs	p.I380fs	ZBTB1_ENST00000358738.3_Frame_Shift_Del_p.I380fs|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.I380fs			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	380					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ATGTCAGCATAAAAAAAAGTG	0.373																																						dbGAP											0													66.0	71.0	69.0					14																	64989362		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1140delA	14.37:g.64989362delA	ENSP00000451000:p.Ile380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S8|Q86SW8	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S383fs	ENST00000554015.1	37	c.1140	CCDS45126.1	14																																																																																			ZBTB1	-	NULL	ENSG00000126804		0.373	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	81	0.00	0	A			64989362	64989362	+1	no_errors	ENST00000394712	ensembl	human	known	69_37n	frame_shift_del	71	24.21	23	DEL	0.015	-
ZBTB20	26137	genome.wustl.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)	dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											56.0	55.0	55.0					3																	114058003		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P692fs	ENST00000474710.1	37	c.2075	CCDS54626.1	3																																																																																			ZBTB20	-	NULL	ENSG00000181722		0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	77	0.00	0	G	NM_015642		114058003	114058003	-1	no_errors	ENST00000474710	ensembl	human	known	69_37n	frame_shift_del	36	33.33	20	DEL	0.678	-
ZBTB40	9923	genome.wustl.edu	37	1	22839544	22839544	+	Silent	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:22839544G>A	ENST00000375647.4	+	12	2796	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	ZBTB40_ENST00000404138.1_Silent_p.P863P|ZBTB40_ENST00000374651.4_Silent_p.P751P	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	863					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GGGACCGCCCGTTCATGTGCA	0.567																																						dbGAP											0													78.0	66.0	70.0					1																	22839544		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2589G>A	1.37:g.22839544G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75066|Q5TFU5|Q8N1R1	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P863	ENST00000375647.4	37	c.2589	CCDS224.1	1																																																																																			ZBTB40	-	pfscan_Znf_C2H2	ENSG00000184677		0.567	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	96	0.00	0	G	NM_014870		22839544	22839544	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	silent	50	20.63	13	SNP	0.066	A
ZBTB6	10773	genome.wustl.edu	37	9	125673378	125673378	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:125673378A>G	ENST00000373659.3	-	2	1062	c.974T>C	c.(973-975)cTa>cCa	p.L325P		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	325					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GCATAAGAATAGTTTATGCAT	0.453																																						dbGAP											0													76.0	78.0	77.0					9																	125673378		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.974T>C	9.37:g.125673378A>G	ENSP00000362763:p.Leu325Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8N6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L325P	ENST00000373659.3	37	c.974	CCDS6846.1	9	.	.	.	.	.	.	.	.	.	.	A	17.06	3.293447	0.60086	.	.	ENSG00000186130	ENST00000373659	T	0.10960	2.82	5.87	5.87	0.94306	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.01146	-0.985	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.40251	-0.9573	10	0.02654	T	1	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	325	Q15916	ZBTB6_HUMAN	P	325	ENSP00000362763:L325P	ENSP00000362763:L325P	L	-	2	0	ZBTB6	124713199	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	5.199000	0.65152	2.371000	0.80710	0.533000	0.62120	CTA	ZBTB6	-	NULL	ENSG00000186130		0.453	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB6	HGNC	protein_coding	OTTHUMT00000053962.1	126	0.00	0	A	NM_006626		125673378	125673378	-1	no_errors	ENST00000373659	ensembl	human	known	69_37n	missense	80	27.93	31	SNP	0.995	G
ZBTB43	23099	genome.wustl.edu	37	9	129595423	129595423	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:129595423G>A	ENST00000373464.4	+	3	899	c.635G>A	c.(634-636)aGc>aAc	p.S212N	ZBTB43_ENST00000373457.1_Missense_Mutation_p.S212N|ZBTB43_ENST00000449886.1_Missense_Mutation_p.S212N	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAATGGCAAGCCAGGATGGG	0.612																																						dbGAP											0													41.0	40.0	40.0					9																	129595423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.635G>A	9.37:g.129595423G>A	ENSP00000362563:p.Ser212Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JU96	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S212N	ENST00000373464.4	37	c.635	CCDS6867.1	9	.	.	.	.	.	.	.	.	.	.	G	5.071	0.198737	0.09652	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.10477	2.87;2.87;2.87	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	L	0.27053	0.805	0.50039	D	0.999841	P	0.48350	0.909	P	0.57776	0.827	T	0.00426	-1.1746	10	0.48119	T	0.1	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	212	O43298	ZBT43_HUMAN	N	212	ENSP00000390344:S212N;ENSP00000362563:S212N;ENSP00000362556:S212N	ENSP00000362556:S212N	S	+	2	0	ZBTB43	128635244	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	3.034000	0.49751	2.813000	0.96785	0.561000	0.74099	AGC	ZBTB43	-	NULL	ENSG00000169155		0.612	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	26	0.00	0	G	NM_001135776		129595423	129595423	+1	no_errors	ENST00000373457	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	A
ZBTB8A	653121	genome.wustl.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																						dbGAP											0										3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				-	-	-	SO:0001651	inframe_deletion	0			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E432in_frame_del	ENST00000373510.4	37	c.1285_1287	CCDS30664.1	1																																																																																			ZBTB8A	-	NULL	ENSG00000160062		0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	86	0.00	0	GAA	NM_144621		33065979	33065981	+1	no_errors	ENST00000373510	ensembl	human	known	69_37n	in_frame_del	66	10.39	8	DEL	1.000:1.000:0.990	-
ZC2HC1C	79696	genome.wustl.edu	37	14	75537733	75537733	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:75537733G>T	ENST00000524913.1	+	2	946	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.G153C|ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.G153C	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	153							metal ion binding (GO:0046872)										GTGCAGTACAGGTGAGGCTGG	0.522																																						dbGAP											0													109.0	107.0	108.0					14																	75537733		1938	4114	6052	-	-	-	SO:0001583	missense	0			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.457G>T	14.37:g.75537733G>T	ENSP00000435550:p.Gly153Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	NULL	p.G153C	ENST00000524913.1	37	c.457	CCDS41972.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.947|8.947	0.967171|0.967171	0.18659|0.18659	.|.	.|.	ENSG00000119703|ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130|ENST00000532198	T|.	0.49432|.	0.78|.	4.72|4.72	-3.92|-3.92	0.04155|0.04155	.|.	1.008340|.	0.07963|.	N|.	0.982743|.	T|T	0.31796|0.31796	0.0808|0.0808	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.043;0.025|.	B;B|.	0.21546|.	0.035;0.016|.	T|T	0.36286|0.36286	-0.9754|-0.9754	10|5	0.87932|.	D|.	0|.	-1.542|-1.542	1.2476|1.2476	0.01975|0.01975	0.3982:0.2718:0.1924:0.1376|0.3982:0.2718:0.1924:0.1376	.|.	153;153|.	Q53FD0;E9PJQ0|.	F164C_HUMAN;.|.	C|H	153|19	ENSP00000435550:G153C|.	ENSP00000238686:G153C|.	G|Q	+|+	1|3	0|2	FAM164C|FAM164C	74607486|74607486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.448000|-0.448000	0.06820|0.06820	-0.657000|-0.657000	0.05373|0.05373	-1.141000|-1.141000	0.01876|0.01876	GGT|CAG	ZC2HC1C	-	NULL	ENSG00000119703		0.522	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1C	HGNC	protein_coding	OTTHUMT00000394616.4	488	0.00	0	G	NM_001042430		75537733	75537733	+1	no_errors	ENST00000524913	ensembl	human	known	69_37n	missense	278	19.42	67	SNP	0.000	T
ZC3H12A	80149	genome.wustl.edu	37	1	37949123	37949123	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:37949123G>A	ENST00000373087.6	+	6	1827	c.1711G>A	c.(1711-1713)Gct>Act	p.A571T		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTGGTGGAGGCTGTGATGGG	0.657																																						dbGAP											0													37.0	40.0	39.0					1																	37949123		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1711G>A	1.37:g.37949123G>A	ENSP00000362179:p.Ala571Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.A571T	ENST00000373087.6	37	c.1711	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087756	0.76642	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.47869	0.83	5.13	5.13	0.70059	.	0.286925	0.38548	N	0.001655	T	0.50616	0.1626	L	0.49350	1.555	0.35983	D	0.836169	P;B	0.46512	0.879;0.264	P;B	0.45639	0.488;0.044	T	0.60026	-0.7343	10	0.40728	T	0.16	-9.8542	18.5767	0.91157	0.0:0.0:1.0:0.0	.	366;571	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	T	571	ENSP00000362179:A571T	ENSP00000362174:A571T	A	+	1	0	ZC3H12A	37721710	0.230000	0.23740	0.993000	0.49108	0.973000	0.67179	1.600000	0.36762	2.390000	0.81377	0.561000	0.74099	GCT	ZC3H12A	-	NULL	ENSG00000163874		0.657	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	26	0.00	0	G	NM_025079		37949123	37949123	+1	no_errors	ENST00000373082	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.949	A
ZC3H13	23091	genome.wustl.edu	37	13	46549808	46549809	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:46549808_46549809delCT	ENST00000242848.4	-	12	2425_2426	c.2077_2078delAG	c.(2077-2079)aggfs	p.R693fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R693fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	693	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ttcacgttccctctctctctcc	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2077_2078delAG	13.37:g.46549816_46549817delCT	ENSP00000242848:p.Arg693fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.R693fs	ENST00000242848.4	37	c.2078_2077		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	231	0.43	1	CT	NM_015070		46549808	46549809	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	frame_shift_del	266	14.74	46	DEL	0.991:0.444	-
ZC3H13	23091	genome.wustl.edu	37	13	46549846	46549847	+	Frame_Shift_Ins	INS	-	-	TC	rs144054764	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:46549846_46549847insTC	ENST00000242848.4	-	12	2387_2388	c.2039_2040insGA	c.(2038-2040)gatfs	p.D680fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.D680fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	680	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctcgttcccgatctctctctct	0.51																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2038_2039dupGA	13.37:g.46549855_46549856dupTC	ENSP00000242848:p.Asp680fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.D680fs	ENST00000242848.4	37	c.2040_2039		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.510	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	177	0.00	0	-	NM_015070		46549846	46549847	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	frame_shift_ins	203	14.71	35	INS	0.949:1.000	TC
ZCRB1	85437	genome.wustl.edu	37	12	42707750	42707750	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:42707750C>T	ENST00000266529.3	-	6	555	c.372G>A	c.(370-372)atG>atA	p.M124I	ZCRB1_ENST00000552673.1_Missense_Mutation_p.M83I|PPHLN1_ENST00000549190.1_Intron	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	124					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GTTCTCCGAGCATATTTTTCG	0.308																																						dbGAP											0													73.0	71.0	72.0					12																	42707750		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.372G>A	12.37:g.42707750C>T	ENSP00000266529:p.Met124Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJX0|Q96TA6	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.M124I	ENST00000266529.3	37	c.372	CCDS8740.1	12	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503162	0.26949	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.41065	2.67;1.02;1.01	5.55	5.55	0.83447	Zinc finger, CCHC retroviral-type (1);	0.147080	0.85682	D	0.000000	T	0.30947	0.0781	N	0.13235	0.315	0.52099	D	0.999945	B	0.02656	0.0	B	0.01281	0.0	T	0.04360	-1.0957	10	0.34782	T	0.22	-23.2127	19.5768	0.95447	0.0:1.0:0.0:0.0	.	124	Q8TBF4	ZCRB1_HUMAN	I	124;83;83	ENSP00000266529:M124I;ENSP00000446732:M83I;ENSP00000448780:M83I	ENSP00000266529:M124I	M	-	3	0	ZCRB1	40994017	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.718000	0.47236	2.644000	0.89710	0.556000	0.70494	ATG	ZCRB1	-	NULL	ENSG00000139168		0.308	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	HGNC	protein_coding	OTTHUMT00000403813.1	186	0.00	0	C	NM_033114		42707750	42707750	-1	no_errors	ENST00000266529	ensembl	human	known	69_37n	missense	168	17.65	36	SNP	1.000	T
ZDHHC20	253832	genome.wustl.edu	37	13	21965870	21965870	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:21965870T>C	ENST00000400590.3	-	8	916	c.718A>G	c.(718-720)Aca>Gca	p.T240A	ZDHHC20_ENST00000415724.1_Missense_Mutation_p.T240A|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.T177A|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.T240A|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.T240A			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	240					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CCTATTGTTGTTCTATTTTTT	0.333																																						dbGAP											0													53.0	52.0	52.0					13																	21965870		1844	4069	5913	-	-	-	SO:0001583	missense	0			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.718A>G	13.37:g.21965870T>C	ENSP00000383433:p.Thr240Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.T240A	ENST00000400590.3	37	c.718		13	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643605	0.47258	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.83	3.55	0.40652	.	0.168771	0.53938	D	0.000051	T	0.74772	0.3760	H	0.99182	4.46	0.80722	D	1	D;D	0.69078	0.997;0.979	D;P	0.68765	0.96;0.879	T	0.80973	-0.1143	10	0.87932	D	0	-29.7492	8.184	0.31328	0.3692:0.0:0.0:0.6308	.	177;240	B4DRN8;Q5W0Z9-3	.;.	A	240;240;240;177;240	ENSP00000383433:T240A;ENSP00000313583:T240A;ENSP00000371905:T240A;ENSP00000443236:T177A;ENSP00000401232:T240A	ENSP00000313583:T240A	T	-	1	0	ZDHHC20	20863870	1.000000	0.71417	0.880000	0.34516	0.457000	0.32468	5.125000	0.64715	1.938000	0.56188	0.383000	0.25322	ACA	ZDHHC20	-	NULL	ENSG00000180776		0.333	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	142	0.70	1	T	NM_153251		21965870	21965870	-1	no_errors	ENST00000400590	ensembl	human	known	69_37n	missense	116	42.57	86	SNP	0.999	C
ZDHHC5	25921	genome.wustl.edu	37	11	57466427	57466427	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr11:57466427G>A	ENST00000287169.3	+	11	2881	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.A454T	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	507					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGCCAGGCTGGCCCAGCAACG	0.597																																						dbGAP											0													60.0	56.0	57.0					11																	57466427		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1519G>A	11.37:g.57466427G>A	ENSP00000287169:p.Ala507Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.A507T	ENST00000287169.3	37	c.1519	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153180	0.38021	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	T;T	0.58652	0.32;1.31	5.09	5.09	0.68999	.	0.063075	0.64402	D	0.000007	T	0.38904	0.1058	N	0.22421	0.69	0.49915	D	0.999839	B	0.25955	0.138	B	0.20955	0.032	T	0.22243	-1.0222	10	0.07813	T	0.8	-11.3503	13.29	0.60267	0.0:0.0:0.8417:0.1583	.	507	Q9C0B5	ZDHC5_HUMAN	T	454;507	ENSP00000432202:A454T;ENSP00000287169:A507T	ENSP00000287169:A507T	A	+	1	0	ZDHHC5	57223003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	2.656000	0.90262	0.563000	0.77884	GCC	ZDHHC5	-	NULL	ENSG00000156599		0.597	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	87	0.00	0	G	NM_015457		57466427	57466427	+1	no_errors	ENST00000287169	ensembl	human	known	69_37n	missense	58	19.44	14	SNP	1.000	A
ZFC3H1	196441	genome.wustl.edu	37	12	72007122	72007122	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:72007122C>T	ENST00000378743.3	-	31	5978	c.5620G>A	c.(5620-5622)Gca>Aca	p.A1874T		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1874					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TACCTCAATGCAAGTCCAGAA	0.343																																						dbGAP											0													51.0	48.0	49.0					12																	72007122		1823	4083	5906	-	-	-	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5620G>A	12.37:g.72007122C>T	ENSP00000368017:p.Ala1874Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.A1874T	ENST00000378743.3	37	c.5620	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348534	0.82132	.	.	ENSG00000133858	ENST00000378743	T	0.32988	1.43	5.53	5.53	0.82687	.	0.122511	0.53938	D	0.000053	T	0.41096	0.1144	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	T	0.08764	-1.0706	10	0.38643	T	0.18	.	19.4167	0.94704	0.0:1.0:0.0:0.0	.	1874	O60293	ZC3H1_HUMAN	T	1874	ENSP00000368017:A1874T	ENSP00000368017:A1874T	A	-	1	0	ZFC3H1	70293389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.936000	0.70153	2.775000	0.95449	0.650000	0.86243	GCA	ZFC3H1	-	NULL	ENSG00000133858		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	56	0.00	0	C	NM_144982		72007122	72007122	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77768193	77768193	+	Silent	SNP	C	C	T	rs139869161	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:77768193C>T	ENST00000521891.2	+	10	9484	c.9036C>T	c.(9034-9036)tgC>tgT	p.C3012C	ZFHX4_ENST00000455469.2_Silent_p.C2967C|ZFHX4_ENST00000518282.1_Silent_p.C2986C|ZFHX4_ENST00000050961.6_Silent_p.C2967C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2967					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.C2996C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTACCCTCTGCGGGGTGAAGT	0.478										HNSCC(33;0.089)			C|||	3	0.000599042	0.0	0.0	5008	,	,		19480	0.003		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	endometrium(1)											48.0	47.0	47.0					8																	77768193		1928	4134	6062	-	-	-	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9036C>T	8.37:g.77768193C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.C3012	ENST00000521891.2	37	c.9036	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000091656		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	133	0.00	0	C	NM_024721		77768193	77768193	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	silent	166	12.17	23	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77776083	77776085	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:77776083_77776085delAAG	ENST00000521891.2	+	11	10581_10583	c.10133_10135delAAG	c.(10132-10137)aaagaa>aaa	p.E3380del	ZFHX4_ENST00000455469.2_In_Frame_Del_p.E3335del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.E3354del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.E3331del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAAGCACAAAAGAAGAACCCCA	0.409										HNSCC(33;0.089)																												dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10133_10135delAAG	8.37:g.77776086_77776088delAAG	ENSP00000430497:p.Glu3380del	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E3380in_frame_del	ENST00000521891.2	37	c.10133_10135	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.409	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	57	0.00	0	AAG	NM_024721		77776083	77776085	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	in_frame_del	53	49.55	55	DEL	1.000:1.000:1.000	-
ZFP62	643836	genome.wustl.edu	37	5	180277409	180277409	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:180277409C>A	ENST00000502412.1	-	2	1143	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	ZFP62_ENST00000359141.6_Missense_Mutation_p.E302D|ZFP62_ENST00000512132.1_Missense_Mutation_p.E329D|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATAAGGTTTCTCTCCAGTGT	0.408																																						dbGAP											0													72.0	64.0	66.0					5																	180277409		692	1591	2283	-	-	-	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1086G>T	5.37:g.180277409C>A	ENSP00000423820:p.Glu362Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E329D	ENST00000502412.1	37	c.987	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	15.92	2.975430	0.53720	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412	T;T;T	0.26810	1.71;1.71;1.71	4.46	3.59	0.41128	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42720	0.1215	L	0.49256	1.55	0.29793	N	0.83305	D	0.63046	0.992	D	0.74348	0.983	T	0.30822	-0.9965	9	0.66056	D	0.02	.	10.8589	0.46815	0.0:0.907:0.0:0.093	.	362	Q8NB50	ZFP62_HUMAN	D	329;302;362	ENSP00000426193:E329D;ENSP00000352053:E302D;ENSP00000423820:E362D	ENSP00000352053:E302D	E	-	3	2	ZFP62	180210015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.126000	0.31344	1.478000	0.48253	0.563000	0.77884	GAG	ZFP62	-	pfscan_Znf_C2H2	ENSG00000196670		0.408	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	25	0.00	0	C	NM_152283		180277409	180277409	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	1.000	A
ZFP82	284406	genome.wustl.edu	37	19	36884650	36884650	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:36884650A>G	ENST00000392161.3	-	5	834	c.592T>C	c.(592-594)Tat>Cat	p.Y198H	ZFP82_ENST00000392171.1_Missense_Mutation_p.Y198H	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTACATTCATACGGTTTTTCA	0.413																																						dbGAP											0													89.0	79.0	82.0					19																	36884650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.592T>C	19.37:g.36884650A>G	ENSP00000431265:p.Tyr198His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC63|Q8TF53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y198H	ENST00000392161.3	37	c.592	CCDS12493.1	19	.	.	.	.	.	.	.	.	.	.	A	16.11	3.028980	0.54790	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.21734	1.99;1.99	4.62	4.62	0.57501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218764	0.23391	N	0.048681	T	0.38612	0.1047	L	0.49778	1.585	0.29601	N	0.847672	D	0.89917	1.0	D	0.97110	1.0	T	0.18745	-1.0327	10	0.49607	T	0.09	.	12.0282	0.53384	1.0:0.0:0.0:0.0	.	198	Q8N141	ZFP82_HUMAN	H	198	ENSP00000431265:Y198H;ENSP00000446080:Y198H	ENSP00000431265:Y198H	Y	-	1	0	ZFP82	41576490	0.123000	0.22298	0.996000	0.52242	0.986000	0.74619	3.923000	0.56469	1.944000	0.56390	0.533000	0.62120	TAT	ZFP82	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181007		0.413	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP82	HGNC	protein_coding	OTTHUMT00000109552.2	221	0.00	0	A	NM_133466		36884650	36884650	-1	no_errors	ENST00000392161	ensembl	human	known	69_37n	missense	203	34.73	108	SNP	0.883	G
ZFPM2	23414	genome.wustl.edu	37	8	106815706	106815706	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:106815706A>G	ENST00000407775.2	+	8	3646	c.3396A>G	c.(3394-3396)tcA>tcG	p.S1132S	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S863S|ZFPM2_ENST00000520492.1_Silent_p.S1000S|ZFPM2_ENST00000517361.1_Silent_p.S1000S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1132					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAACCTTTCAAACTTTATAA	0.393																																						dbGAP											0													35.0	34.0	34.0					8																	106815706		1884	4100	5984	-	-	-	SO:0001819	synonymous_variant	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3396A>G	8.37:g.106815706A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1132	ENST00000407775.2	37	c.3396	CCDS47908.1	8																																																																																			ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.393	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	38	0.00	0	A			106815706	106815706	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	silent	28	58.82	40	SNP	1.000	G
ZFYVE19	84936	genome.wustl.edu	37	15	41101336	41101336	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr15:41101336G>A	ENST00000355341.4	+	2	800	c.299G>A	c.(298-300)gGc>gAc	p.G100D	ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.G77D|DNAJC17_ENST00000220496.4_5'Flank|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.G90D|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.G100D|ZFYVE19_ENST00000564258.1_5'UTR	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	100					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AAGAATTGTGGCAGGGCCTTC	0.572																																						dbGAP											0													67.0	73.0	71.0					15																	41101336		1975	4156	6131	-	-	-	SO:0001583	missense	0			AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.299G>A	15.37:g.41101336G>A	ENSP00000347498:p.Gly100Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.W93*	ENST00000355341.4	37	c.279	CCDS42025.1	15	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764772	0.90020	.	.	ENSG00000166140	ENST00000355341;ENST00000299173;ENST00000336455	D;D;T	0.85556	-2.0;-2.0;0.38	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.050720	0.85682	D	0.000000	D	0.95089	0.8409	H	0.96333	3.805	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96436	0.9323	10	0.72032	D	0.01	-13.7161	17.895	0.88885	0.0:0.0:1.0:0.0	.	100;100	Q96K21-3;Q96K21	.;ZFY19_HUMAN	D	100;100;90	ENSP00000347498:G100D;ENSP00000299173:G100D;ENSP00000337824:G90D	ENSP00000299173:G100D	G	+	2	0	ZFYVE19	38888628	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.663000	0.91134	2.494000	0.84150	0.557000	0.71058	GGC	ZFYVE19	-	NULL	ENSG00000166140		0.572	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	HGNC	protein_coding	OTTHUMT00000418996.1	48	0.00	0	G	NM_032850		41101336	41101336	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000568062	ensembl	human	known	69_37n	nonsense	28	28.21	11	SNP	1.000	A
ZFYVE26	23503	genome.wustl.edu	37	14	68238793	68238793	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr14:68238793T>C	ENST00000347230.4	-	28	5593	c.5455A>G	c.(5455-5457)Atg>Gtg	p.M1819V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.M1819V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1819					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCAGACCATGCAGATACTC	0.557																																						dbGAP											0													52.0	45.0	47.0					14																	68238793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5455A>G	14.37:g.68238793T>C	ENSP00000251119:p.Met1819Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.M1819V	ENST00000347230.4	37	c.5455	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353591	0.82243	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.72167	-0.63;-0.63	5.76	5.76	0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.84633	0.5515	M	0.80746	2.51	0.58432	D	0.999999	D;D	0.64830	0.992;0.994	D;D	0.79108	0.984;0.992	D	0.85848	0.1402	10	0.52906	T	0.07	-22.6222	16.0668	0.80887	0.0:0.0:0.0:1.0	.	1819;1819	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	1819;1798;1819	ENSP00000251119:M1819V;ENSP00000450603:M1819V	ENSP00000251119:M1819V	M	-	1	0	ZFYVE26	67308546	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.831000	0.86748	2.192000	0.70111	0.459000	0.35465	ATG	ZFYVE26	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000072121		0.557	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	32	0.00	0	T	NM_015346		68238793	68238793	-1	no_errors	ENST00000347230	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	C
ZHX2	22882	genome.wustl.edu	37	8	123965770	123965770	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:123965770C>T	ENST00000314393.4	+	3	2855	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	674					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGATTGTGCGTTGGTTCAA	0.557																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													100.0	91.0	94.0					8																	123965770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2020C>T	8.37:g.123965770C>T	ENSP00000314709:p.Arg674Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R674C	ENST00000314393.4	37	c.2020	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478026	0.63849	.	.	ENSG00000178764	ENST00000314393	D	0.96073	-3.9	5.72	5.72	0.89469	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.055226	0.64402	D	0.000001	D	0.96996	0.9019	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97114	0.9806	10	0.72032	D	0.01	-14.9951	14.676	0.68981	0.1453:0.8547:0.0:0.0	.	674	Q9Y6X8	ZHX2_HUMAN	C	674	ENSP00000314709:R674C	ENSP00000314709:R674C	R	+	1	0	ZHX2	124034951	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.578000	0.67450	2.703000	0.92315	0.561000	0.74099	CGT	ZHX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000178764		0.557	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	94	0.00	0	C	NM_014943		123965770	123965770	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	missense	134	10.67	16	SNP	1.000	T
ZHX2	22882	genome.wustl.edu	37	8	123966150	123966150	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr8:123966150G>T	ENST00000314393.4	+	3	3235	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	800					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGGTCGGGGAGGAGGATGCGA	0.617																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	dbGAP											0													112.0	88.0	96.0					8																	123966150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.2400G>T	8.37:g.123966150G>T	ENSP00000314709:p.Glu800Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E800D	ENST00000314393.4	37	c.2400	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515945	0.44763	.	.	ENSG00000178764	ENST00000314393	T	0.17054	2.3	6.04	4.26	0.50523	.	0.144433	0.44902	D	0.000415	T	0.08670	0.0215	N	0.14661	0.345	0.39257	D	0.964133	B	0.21753	0.06	B	0.15052	0.012	T	0.25502	-1.0130	10	0.25106	T	0.35	-26.202	6.3781	0.21519	0.1355:0.0:0.6132:0.2512	.	800	Q9Y6X8	ZHX2_HUMAN	D	800	ENSP00000314709:E800D	ENSP00000314709:E800D	E	+	3	2	ZHX2	124035331	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	1.449000	0.35123	0.894000	0.36317	0.561000	0.74099	GAG	ZHX2	-	NULL	ENSG00000178764		0.617	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	69	0.00	0	G	NM_014943		123966150	123966150	+1	no_errors	ENST00000314393	ensembl	human	known	69_37n	missense	109	12.80	16	SNP	1.000	T
ZMIZ1	57178	genome.wustl.edu	37	10	81060562	81060562	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:81060562G>A	ENST00000334512.5	+	17	2454	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	628					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCCGCCTCGGTGCAGGTCAG	0.652																																						dbGAP											0													91.0	84.0	86.0					10																	81060562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1882G>A	10.37:g.81060562G>A	ENSP00000334474:p.Val628Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.V628M	ENST00000334512.5	37	c.1882	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.190461	0.94923	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.45276	0.9	5.25	5.25	0.73442	.	0.000000	0.37437	N	0.002099	T	0.70098	0.3185	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75795	-0.3192	10	0.87932	D	0	-16.2187	18.8393	0.92176	0.0:0.0:1.0:0.0	.	628	Q9ULJ6	ZMIZ1_HUMAN	M	628;558;533	ENSP00000334474:V628M	ENSP00000334474:V628M	V	+	1	0	ZMIZ1	80730568	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.423000	0.97461	2.441000	0.82636	0.591000	0.81541	GTG	ZMIZ1	-	NULL	ENSG00000108175		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	20	0.00	0	G	NM_020338		81060562	81060562	+1	no_errors	ENST00000334512	ensembl	human	known	69_37n	missense	9	25.00	3	SNP	1.000	A
ZMPSTE24	10269	genome.wustl.edu	37	1	40726653	40726653	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:40726653G>A	ENST00000372759.3	+	2	431	c.266G>A	c.(265-267)gGc>gAc	p.G89D	ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	89					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GAGACTGAAGGCACTGTGAGT	0.398																																						dbGAP											0													121.0	120.0	120.0					1																	40726653		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.266G>A	1.37:g.40726653G>A	ENSP00000361845:p.Gly89Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	pfam_Peptidase_M48	p.G89D	ENST00000372759.3	37	c.266	CCDS449.1	1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307852	0.60305	.	.	ENSG00000084073	ENST00000372759	T	0.00958	5.5	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.00998	0.0033	N	0.17674	0.51	0.80722	D	1	B	0.22983	0.078	B	0.22880	0.042	T	0.67193	-0.5732	10	0.12103	T	0.63	-6.0092	18.4227	0.90597	0.0:0.0:1.0:0.0	.	89	O75844	FACE1_HUMAN	D	89	ENSP00000361845:G89D	ENSP00000361845:G89D	G	+	2	0	ZMPSTE24	40499240	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.394000	0.97261	2.414000	0.81942	0.561000	0.74099	GGC	ZMPSTE24	-	NULL	ENSG00000084073		0.398	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	166	0.00	0	G			40726653	40726653	+1	no_errors	ENST00000372759	ensembl	human	known	69_37n	missense	115	22.67	34	SNP	1.000	A
ZMYM2	7750	genome.wustl.edu	37	13	20625720	20625720	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:20625720C>T	ENST00000382874.2	+	14	2630	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	ZMYM2_ENST00000382871.2_Missense_Mutation_p.P814S|ZMYM2_ENST00000382869.3_Missense_Mutation_p.P814S|ZMYM2_ENST00000382883.3_Missense_Mutation_p.P296S	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCAGAAAGGACCTGAAAACTT	0.373																																						dbGAP											0													88.0	89.0	89.0					13																	20625720		1907	4114	6021	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2440C>T	13.37:g.20625720C>T	ENSP00000372327:p.Pro814Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.P814S	ENST00000382874.2	37	c.2440	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797211	0.70567	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.46819	2.02;0.86	5.63	5.63	0.86233	.	0.047911	0.85682	D	0.000000	T	0.65852	0.2731	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66610	-0.5880	10	0.72032	D	0.01	-14.257	19.6626	0.95878	0.0:1.0:0.0:0.0	.	814	Q9UBW7	ZMYM2_HUMAN	S	814;814;812;812;296;192	ENSP00000372322:P814S;ENSP00000372336:P296S	ENSP00000372322:P814S	P	+	1	0	ZMYM2	19523720	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.200000	0.77838	2.643000	0.89663	0.655000	0.94253	CCT	ZMYM2	-	NULL	ENSG00000121741		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	81	0.00	0	C	NM_003453		20625720	20625720	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	55	34.52	29	SNP	1.000	T
ZMYM2	7750	genome.wustl.edu	37	13	20638677	20638677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr13:20638677delA	ENST00000382874.2	+	20	3314	c.3124delA	c.(3124-3126)aaafs	p.K1044fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.K1044fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.K1044fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1044					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.K1044fs*33(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACCTCGATCTAAAAAAAAGGT	0.368																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											92.0	82.0	85.0					13																	20638677		1806	4073	5879	-	-	-	SO:0001589	frameshift_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3124delA	13.37:g.20638677delA	ENSP00000372327:p.Lys1044fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.K1044fs	ENST00000382874.2	37	c.3124	CCDS45016.1	13																																																																																			ZMYM2	-	NULL	ENSG00000121741		0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	26	0.00	0	A	NM_003453		20638677	20638677	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	frame_shift_del	19	36.67	11	DEL	1.000	-
ZMYM3	9203	genome.wustl.edu	37	X	70467388	70467388	+	Intron	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:70467388C>A	ENST00000353904.2	-	13	2336				ZMYM3_ENST00000373998.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Intron|ZMYM3_ENST00000314425.5_Intron|ZMYM3_ENST00000373984.3_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATGGTCAGACCTGCCTCCCTA	0.612																																						dbGAP											0													41.0	31.0	34.0					X																	70467388		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2149-28G>T	X.37:g.70467388C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	RNA	SNP	-	NULL	ENST00000353904.2	37	NULL	CCDS14409.1	X																																																																																			ZMYM3	-	-	ENSG00000147130		0.612	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	76	0.00	0	C	NM_201599		70467388	70467388	-1	no_errors	ENST00000489332	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.000	A
ZMYM3	9203	genome.wustl.edu	37	X	70472854	70472854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:70472854delC	ENST00000353904.2	-	2	439	c.252delG	c.(250-252)gggfs	p.G84fs	ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.G84fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	84					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TATAGAGCAGCCCCCCCAGCC	0.642																																						dbGAP											0													15.0	17.0	16.0					X																	70472854		2194	4281	6475	-	-	-	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.252delG	X.37:g.70472854delC	ENSP00000343909:p.Gly84fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L85fs	ENST00000353904.2	37	c.252	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	35	0.00	0	C	NM_201599		70472854	70472854	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	frame_shift_del	11	31.25	5	DEL	1.000	-
ZMYM6	9204	genome.wustl.edu	37	1	35476534	35476534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:35476534delC	ENST00000357182.4	-	9	1393	c.1166delG	c.(1165-1167)ggafs	p.G391fs	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Frame_Shift_Del_p.G391fs|ZMYM6_ENST00000487874.1_Frame_Shift_Del_p.G391fs	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	391					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTACCTCCTCCTATTGACAC	0.562																																						dbGAP											0													70.0	70.0	70.0					1																	35476534		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1166delG	1.37:g.35476534delC	ENSP00000349708:p.Gly391fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Del	DEL	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.G389fs	ENST00000357182.4	37	c.1166	CCDS387.2	1																																																																																			ZMYM6	-	NULL	ENSG00000163867		0.562	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	82	0.00	0	C	NM_007167		35476534	35476534	-1	no_errors	ENST00000357182	ensembl	human	known	69_37n	frame_shift_del	47	26.56	17	DEL	0.009	-
ZNF185	7739	genome.wustl.edu	37	X	152132427	152132427	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chrX:152132427C>T	ENST00000370268.4	+	18	1686	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V	ZNF185_ENST00000454925.1_Missense_Mutation_p.A188V|ZNF185_ENST00000318529.8_Missense_Mutation_p.A329V|ZNF185_ENST00000535861.1_Missense_Mutation_p.A582V|ZNF185_ENST00000370270.2_Missense_Mutation_p.A582V|ZNF185_ENST00000539731.1_Missense_Mutation_p.A553V|ZNF185_ENST00000324823.6_Missense_Mutation_p.A318V|ZNF185_ENST00000318504.7_Missense_Mutation_p.A491V|ZNF185_ENST00000449285.2_Missense_Mutation_p.A551V			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	550						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTCACTGCCACATCTGAG	0.537																																						dbGAP											0													99.0	95.0	96.0					X																	152132427		2080	4185	6265	-	-	-	SO:0001583	missense	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1649C>T	X.37:g.152132427C>T	ENSP00000359291:p.Ala550Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.A582V	ENST00000370268.4	37	c.1745	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.793485|1.793485	0.31685|0.31685	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270|ENST00000454925	T;T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82;0.82|.	3.44|3.44	0.239|0.239	0.15484|0.15484	.|.	0.816453|.	0.10577|.	N|.	0.658478|.	T|T	0.35711|0.35711	0.0941|0.0941	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B;B;P;B;B;B;B;D;B|.	0.67145|.	0.065;0.065;0.879;0.2;0.241;0.11;0.366;0.996;0.065|.	B;B;P;B;B;B;B;D;B|.	0.77557|.	0.025;0.025;0.484;0.051;0.046;0.018;0.187;0.99;0.025|.	T|T	0.29761|0.29761	-1.0001|-1.0001	10|5	0.59425|.	D|.	0.04|.	-1.1282|-1.1282	5.042|5.042	0.14463|0.14463	0.4323:0.3706:0.1971:0.0|0.4323:0.3706:0.1971:0.0	.|.	551;491;521;553;582;550;188;329;313|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2|.	.;.;.;.;.;ZN185_HUMAN;.;.;.|.	V|S	582;553;551;491;385;318;550;329;313|191	ENSP00000440847:A582V;ENSP00000444367:A553V;ENSP00000395228:A551V;ENSP00000312782:A491V;ENSP00000359291:A550V|.	ENSP00000312782:A491V|.	A|P	+|+	2|1	0|0	ZNF185|ZNF185	151883083|151883083	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.276000|0.276000	0.26787|0.26787	-0.056000|-0.056000	0.11787|0.11787	-0.059000|-0.059000	0.13154|0.13154	0.513000|0.513000	0.50165|0.50165	GCC|CCA	ZNF185	-	NULL	ENSG00000147394		0.537	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	145	0.00	0	C	NM_007150		152132427	152132427	+1	no_errors	ENST00000535861	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	0.001	T
ZNF205	7755	genome.wustl.edu	37	16	3168990	3168992	+	In_Frame_Del	DEL	AGA	AGA	-	rs555833704		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:3168990_3168992delAGA	ENST00000382192.3	+	6	774_776	c.569_571delAGA	c.(568-573)gagaag>gag	p.K191del	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_In_Frame_Del_p.K191del|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	191	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCAGGAGATGAGAAGGAGTGGAG	0.66																																						dbGAP											0									,	1,4263		0,1,2131					,	3.4	0.2			62	1,8253		0,1,4126	no	coding,coding	ZNF205	NM_003456.2,NM_001042428.1	,	0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12516				-	-	-	SO:0001651	inframe_deletion	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.569_571delAGA	16.37:g.3168990_3168992delAGA	ENSP00000371627:p.Lys191del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZK0|D3DUB4|Q9BU95	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K191in_frame_del	ENST00000382192.3	37	c.569_571	CCDS10494.2	16																																																																																			ZNF205	-	pfscan_Krueppel-associated_box	ENSG00000122386		0.660	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	10	0.00	0	AGA	NM_003456		3168990	3168992	+1	no_errors	ENST00000219091	ensembl	human	known	69_37n	in_frame_del	3	50.00	3	DEL	0.633:0.615:0.001	-
ZNF221	7638	genome.wustl.edu	37	19	44471307	44471307	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:44471307G>A	ENST00000251269.5	+	6	1981	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	ZNF221_ENST00000587682.1_Missense_Mutation_p.M551I|ZNF221_ENST00000592350.1_Missense_Mutation_p.M551I	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCTTGACATGCACCAGAGGG	0.448																																						dbGAP											0													91.0	87.0	89.0					19																	44471307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1653G>A	19.37:g.44471307G>A	ENSP00000251269:p.Met551Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M551I	ENST00000251269.5	37	c.1653	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	g	10.82	1.457683	0.26161	.	.	ENSG00000159905	ENST00000251269	T	0.07327	3.2	2.81	-5.42	0.02640	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02379	-0.575	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.45116	-0.9283	9	0.33141	T	0.24	.	5.8331	0.18590	0.0:0.3645:0.3015:0.334	.	551	Q9UK13	ZN221_HUMAN	I	551	ENSP00000251269:M551I	ENSP00000251269:M551I	M	+	3	0	ZNF221	49163147	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-11.074000	0.00004	-1.202000	0.02655	0.462000	0.41574	ATG	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159905		0.448	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	216	0.00	0	G			44471307	44471307	+1	no_errors	ENST00000251269	ensembl	human	known	69_37n	missense	180	31.82	84	SNP	0.001	A
ZNF225	7768	genome.wustl.edu	37	19	44636115	44636115	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:44636115C>A	ENST00000262894.6	+	5	1628	c.1348C>A	c.(1348-1350)Cac>Aac	p.H450N	ZNF225_ENST00000590612.1_Missense_Mutation_p.H450N|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TCAGAGGGTCCACAGAGGAGA	0.473																																						dbGAP											0													78.0	83.0	81.0					19																	44636115		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1348C>A	19.37:g.44636115C>A	ENSP00000262894:p.His450Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H450N	ENST00000262894.6	37	c.1348	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526419	0.85600	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.67345	-0.26	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85106	0.5621	M	0.93808	3.46	0.28072	N	0.93252	D	0.56035	0.974	D	0.78314	0.991	T	0.77624	-0.2518	9	0.87932	D	0	.	12.4313	0.55575	0.0:1.0:0.0:0.0	.	450	Q9UK10	ZN225_HUMAN	N	450;414	ENSP00000262894:H450N	ENSP00000262894:H450N	H	+	1	0	ZNF225	49327955	1.000000	0.71417	0.018000	0.16275	0.846000	0.48090	7.028000	0.76470	1.462000	0.47948	0.561000	0.74099	CAC	ZNF225	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256294		0.473	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	HGNC	protein_coding	OTTHUMT00000460581.1	317	0.00	0	C			44636115	44636115	+1	no_errors	ENST00000262894	ensembl	human	known	69_37n	missense	333	18.58	76	SNP	0.988	A
ZBTB18	10472	genome.wustl.edu	37	1	244217994	244217997	+	Frame_Shift_Del	DEL	GAAA	GAAA	-	rs183036142		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	GAAA	GAAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:244217994_244217997delGAAA	ENST00000358704.4	+	2	1067_1070	c.918_921delGAAA	c.(916-921)gtgaaafs	p.VK306fs		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	297					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATAGCACTGTGAAAGAAAGTGTGA	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.918_921delGAAA	1.37:g.244217998_244218001delGAAA	ENSP00000351539:p.Val306fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E308fs	ENST00000358704.4	37	c.918_921	CCDS1622.1	1																																																																																			ZNF238	-	NULL	ENSG00000179456		0.525	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	100	0.00	0	GAAA	NM_205768		244217994	244217997	+1	no_errors	ENST00000358704	ensembl	human	known	69_37n	frame_shift_del	82	12.77	12	DEL	1.000:1.000:1.000:1.000	-
ZNF254	9534	genome.wustl.edu	37	19	24309669	24309669	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:24309669T>C	ENST00000357002.4	+	4	982	c.867T>C	c.(865-867)acT>acC	p.T289T	ZNF254_ENST00000342944.6_Silent_p.T204T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	289					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAATTCATACTGGAGAGAAAC	0.353																																						dbGAP											0													33.0	35.0	35.0					19																	24309669		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.867T>C	19.37:g.24309669T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC0|Q86XL7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T289	ENST00000357002.4	37	c.867	CCDS32983.1	19																																																																																			ZNF254	-	pfscan_Znf_C2H2	ENSG00000213096		0.353	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	277	0.36	1	T	NM_004876		24309669	24309669	+1	no_errors	ENST00000357002	ensembl	human	known	69_37n	silent	196	19.34	47	SNP	0.965	C
ZNF267	10308	genome.wustl.edu	37	16	31926605	31926605	+	Silent	SNP	C	C	T	rs542465068		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr16:31926605C>T	ENST00000300870.10	+	4	1244	c.1035C>T	c.(1033-1035)acC>acT	p.T345T		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	345					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TCATTCCTACCGAAGAGAAAC	0.368																																						dbGAP											0													112.0	117.0	116.0					16																	31926605		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1035C>T	16.37:g.31926605C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T345	ENST00000300870.10	37	c.1035	CCDS32440.1	16																																																																																			ZNF267	-	pfscan_Znf_C2H2	ENSG00000185947		0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	249	0.00	0	C	NM_003414		31926605	31926605	+1	no_errors	ENST00000300870	ensembl	human	known	69_37n	silent	235	21.07	63	SNP	0.914	T
ZNF268	10795	genome.wustl.edu	37	12	133780595	133780595	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr12:133780595G>A	ENST00000536435.2	+	6	2653	c.2323G>A	c.(2323-2325)Gca>Aca	p.A775T	ZNF268_ENST00000228289.5_Missense_Mutation_p.A775T|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.A614T|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	775					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCGAACTCATGCAGGGGAAAA	0.418																																						dbGAP											0													31.0	31.0	31.0					12																	133780595		692	1590	2282	-	-	-	SO:0001583	missense	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2323G>A	12.37:g.133780595G>A	ENSP00000444412:p.Ala775Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A775T	ENST00000536435.2	37	c.2323	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.370824	0.01225	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.11277	2.79;2.79	4.17	-2.88	0.05682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.00329	-1.635	0.21105	N	0.999781	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.45644	-0.9247	8	.	.	.	.	3.9532	0.09379	0.5286:0.0:0.1655:0.3059	.	775;614	Q14587;Q14587-2	ZN268_HUMAN;.	T	775;775;614;614	ENSP00000228289:A775T;ENSP00000445713:A614T	.	A	+	1	0	ZNF268	.	0.004000	0.15560	0.008000	0.14137	0.407000	0.30961	1.275000	0.33144	-0.469000	0.06911	0.655000	0.94253	GCA	ZNF268	-	pfscan_Znf_C2H2	ENSG00000090612		0.418	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	57	0.00	0	G	NM_152943		133780595	133780595	+1	no_errors	ENST00000228289	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.884	A
ZNF286A	57335	genome.wustl.edu	37	17	15619694	15619694	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:15619694C>T	ENST00000464847.2	+	5	1209	c.656C>T	c.(655-657)aCa>aTa	p.T219I	ZNF286A_ENST00000413242.2_Missense_Mutation_p.T219I|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.T219I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.T219I|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000593105.1_Missense_Mutation_p.T209I|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GCCTTCCATACACTTGAAAAA	0.338																																						dbGAP											0													36.0	35.0	35.0					17																	15619694		2183	4272	6455	-	-	-	SO:0001583	missense	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.656C>T	17.37:g.15619694C>T	ENSP00000464218:p.Thr219Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKF9|Q96JF3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T219I	ENST00000464847.2	37	c.656	CCDS11172.1	17	.	.	.	.	.	.	.	.	.	.	c	5.289	0.238631	0.10023	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.26957	1.7;1.7	4.06	1.63	0.23807	.	0.812016	0.10443	N	0.674020	T	0.16342	0.0393	L	0.35288	1.05	0.09310	N	1	B	0.20671	0.047	B	0.19391	0.025	T	0.29701	-1.0003	10	0.41790	T	0.15	-0.9894	1.9343	0.03333	0.3101:0.4088:0.1722:0.1088	.	219	Q9HBT8	Z286A_HUMAN	I	219;209;219	ENSP00000397163:T219I;ENSP00000408168:T209I	ENSP00000435872:T219I	T	+	2	0	ZNF286A	15560419	0.000000	0.05858	0.534000	0.28014	0.846000	0.48090	-0.206000	0.09398	0.458000	0.26988	0.650000	0.86243	ACA	AC005324.8-001	-	NULL	ENSG00000255104		0.338	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	Clone_based_vega_gene	protein_coding	OTTHUMT00000130696.4	90	0.00	0	C	NM_020652		15619694	15619694	+1	no_errors	ENST00000413242	ensembl	human	known	69_37n	missense	84	22.22	24	SNP	0.003	T
ZNF335	63925	genome.wustl.edu	37	20	44589091	44589091	+	Missense_Mutation	SNP	C	C	T	rs555774487		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr20:44589091C>T	ENST00000322927.2	-	13	1956	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	ZNF335_ENST00000426788.1_Missense_Mutation_p.R464H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	619					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GATGTACCTGCGGTTGGCAAC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		20240	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													76.0	75.0	75.0					20																	44589091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1856G>A	20.37:g.44589091C>T	ENSP00000325326:p.Arg619His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R619H	ENST00000322927.2	37	c.1856	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181148	0.78677	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.34275	1.37;1.37	5.37	4.41	0.53225	.	0.174561	0.51477	D	0.000083	T	0.37156	0.0993	N	0.08118	0	0.46044	D	0.998838	D;D	0.76494	0.999;0.998	D;P	0.62955	0.909;0.813	T	0.49093	-0.8975	10	0.72032	D	0.01	.	14.4416	0.67321	0.1482:0.8518:0.0:0.0	.	464;619	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	H	619;396;464	ENSP00000325326:R619H;ENSP00000397098:R464H	ENSP00000243961:R396H	R	-	2	0	ZNF335	44022498	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	2.656000	0.46716	1.468000	0.48064	0.650000	0.86243	CGC	ZNF335	-	NULL	ENSG00000198026		0.567	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	44	0.00	0	C	NM_022095		44589091	44589091	-1	no_errors	ENST00000322927	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	T
ZNF442	79973	genome.wustl.edu	37	19	12460577	12460577	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:12460577C>T	ENST00000242804.4	-	6	2404	c.1822G>A	c.(1822-1824)Gca>Aca	p.A608T	ZNF442_ENST00000438182.1_Missense_Mutation_p.A539T|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	608					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GAACTCAGTGCCTTCCCACAT	0.388																																						dbGAP											0													104.0	91.0	96.0					19																	12460577		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1822G>A	19.37:g.12460577C>T	ENSP00000242804:p.Ala608Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ48	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A608T	ENST00000242804.4	37	c.1822	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	C	2.442	-0.328486	0.05314	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.16897	2.31;2.31	0.792	-1.58	0.08479	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	N	0.13272	0.32	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.31024	-0.9958	9	0.36615	T	0.2	.	5.8071	0.18446	0.0:0.5675:0.0:0.4325	.	608	Q9H7R0	ZN442_HUMAN	T	608;539	ENSP00000242804:A608T;ENSP00000388634:A539T	ENSP00000242804:A608T	A	-	1	0	ZNF442	12321577	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.457000	0.06745	-1.585000	0.01634	-1.206000	0.01644	GCA	ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198342		0.388	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	244	0.00	0	C	NM_030824		12460577	12460577	-1	no_errors	ENST00000242804	ensembl	human	known	69_37n	missense	146	26.87	54	SNP	0.018	T
ZNF347	84671	genome.wustl.edu	37	19	53644695	53644695	+	Silent	SNP	G	G	A	rs201067829		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:53644695G>A	ENST00000334197.7	-	5	1454	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	ZNF347_ENST00000452676.2_Silent_p.C463C|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C463C	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGACCTTGCCGCATTCATGAC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		23441	0.001		0.0	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	dbGAP											0													146.0	144.0	145.0					19																	53644695		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1386C>T	19.37:g.53644695G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C463	ENST00000334197.7	37	c.1389	CCDS33097.1	19																																																																																			ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.433	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	314	0.32	1	G	NM_032584		53644695	53644695	-1	no_errors	ENST00000452676	ensembl	human	known	69_37n	silent	308	31.25	140	SNP	0.996	A
ZNF446	55663	genome.wustl.edu	37	19	58988739	58988739	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:58988739T>C	ENST00000594369.1	+	2	535	c.154T>C	c.(154-156)Tgc>Cgc	p.C52R	ZNF446_ENST00000596341.1_Missense_Mutation_p.C52R|CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000335841.4_Missense_Mutation_p.C52R	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGAGCTGTGTTGCCAGTGGCT	0.657																																						dbGAP											0													51.0	56.0	54.0					19																	58988739		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.154T>C	19.37:g.58988739T>C	ENSP00000472802:p.Cys52Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C52R	ENST00000594369.1	37	c.154	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	T	1.510	-0.549634	0.03996	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000539679	T	0.04551	3.6	4.52	2.37	0.29283	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	1.138310	0.06918	N	0.808783	T	0.02571	0.0078	N	0.04655	-0.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.39461	-0.9613	10	0.12430	T	0.62	-12.0939	7.8259	0.29315	0.0:0.7976:0.0:0.2024	.	52;52;52	F5H201;Q96AF5;Q9NWS9	.;.;ZN446_HUMAN	R	52	ENSP00000336565:C52R	ENSP00000336565:C52R	C	+	1	0	ZNF446	63680551	0.001000	0.12720	0.940000	0.37924	0.527000	0.34593	0.012000	0.13287	0.602000	0.29896	-1.260000	0.01463	TGC	ZNF446	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000083838		0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	53	0.00	0	T	NM_017908		58988739	58988739	+1	no_errors	ENST00000335841	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	0.964	C
ZNF474	133923	genome.wustl.edu	37	5	121487948	121487948	+	Missense_Mutation	SNP	C	C	T	rs572551346		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr5:121487948C>T	ENST00000296600.4	+	2	646	c.263C>T	c.(262-264)cCg>cTg	p.P88L	CTC-441N14.1_ENST00000505209.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	88							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCTGTGATCCCGGCCCGCAGG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17046	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	89.0	85.0					5																	121487948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.263C>T	5.37:g.121487948C>T	ENSP00000296600:p.Pro88Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M0|Q96M07	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.P88L	ENST00000296600.4	37	c.263	CCDS4130.1	5	.	.	.	.	.	.	.	.	.	.	C	5.432	0.264798	0.10294	.	.	ENSG00000164185	ENST00000296600	T	0.51325	0.71	5.58	3.8	0.43715	.	1.239420	0.05251	N	0.514033	T	0.42921	0.1224	L	0.36672	1.1	0.43355	D	0.995424	B	0.19817	0.039	B	0.14023	0.01	T	0.05146	-1.0903	10	0.52906	T	0.07	0.0849	10.7392	0.46143	0.0:0.79:0.0:0.21	.	88	Q6S9Z5	ZN474_HUMAN	L	88	ENSP00000296600:P88L	ENSP00000296600:P88L	P	+	2	0	ZNF474	121515847	0.846000	0.29590	0.368000	0.25939	0.005000	0.04900	2.352000	0.44080	0.718000	0.32166	0.655000	0.94253	CCG	ZNF474	-	NULL	ENSG00000164185		0.498	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF474	HGNC	protein_coding	OTTHUMT00000250883.2	267	0.00	0	C	NM_207317		121487948	121487948	+1	no_errors	ENST00000296600	ensembl	human	known	69_37n	missense	101	54.30	120	SNP	0.728	T
ZNF527	84503	genome.wustl.edu	37	19	37879980	37879980	+	Silent	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:37879980T>C	ENST00000436120.2	+	5	1136	c.1029T>C	c.(1027-1029)gcT>gcC	p.A343A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACAGAGTGCTCACCTTGCTC	0.443																																						dbGAP											0													86.0	91.0	90.0					19																	37879980		2195	4294	6489	-	-	-	SO:0001819	synonymous_variant	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1029T>C	19.37:g.37879980T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVL5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A343	ENST00000436120.2	37	c.1029	CCDS42559.1	19																																																																																			ZNF527	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189164		0.443	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	229	0.43	1	T	NM_032453		37879980	37879980	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	silent	222	16.54	44	SNP	0.000	C
ZNF528	84436	genome.wustl.edu	37	19	52918609	52918609	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:52918609T>A	ENST00000360465.3	+	7	930	c.504T>A	c.(502-504)gaT>gaA	p.D168E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATAATTTTGATCATGCTCCAT	0.363																																						dbGAP											0													44.0	49.0	47.0					19																	52918609		2192	4296	6488	-	-	-	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.504T>A	19.37:g.52918609T>A	ENSP00000353652:p.Asp168Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D168E	ENST00000360465.3	37	c.504	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	T	0.214	-1.034187	0.02029	.	.	ENSG00000167555	ENST00000360465	T	0.14766	2.48	2.15	-4.3	0.03710	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	P	0.50528	0.936	B	0.39217	0.294	T	0.17440	-1.0369	9	0.17369	T	0.5	.	1.1698	0.01823	0.1886:0.2847:0.1117:0.4151	.	168	Q3MIS6	ZN528_HUMAN	E	168	ENSP00000353652:D168E	ENSP00000353652:D168E	D	+	3	2	ZNF528	57610421	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.229000	0.00270	-2.397000	0.00581	-0.472000	0.04984	GAT	ZNF528	-	NULL	ENSG00000167555		0.363	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	170	0.00	0	T	NM_032423		52918609	52918609	+1	no_errors	ENST00000360465	ensembl	human	known	69_37n	missense	124	34.39	65	SNP	0.000	A
ZNF557	79230	genome.wustl.edu	37	19	7075749	7075749	+	Silent	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:7075749C>T	ENST00000439035.2	+	4	334	c.94C>T	c.(94-96)Cta>Tta	p.L32L	ZNF557_ENST00000414706.1_Silent_p.L39L|ZNF557_ENST00000252840.6_Silent_p.L39L			Q8N988	ZN557_HUMAN	zinc finger protein 557	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAAGCTGGCTAAAGGTGAG	0.527																																						dbGAP											0													153.0	158.0	157.0					19																	7075749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.94C>T	19.37:g.7075749C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PEJ3|Q9BTZ1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L39	ENST00000439035.2	37	c.115	CCDS45945.1	19																																																																																			ZNF557	-	superfamily_Krueppel-associated_box	ENSG00000130544		0.527	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	103	0.00	0	C	NM_024341		7075749	7075749	+1	no_errors	ENST00000252840	ensembl	human	known	69_37n	silent	93	23.77	29	SNP	0.368	T
ZNF611	81856	genome.wustl.edu	37	19	53208724	53208724	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:53208724A>G	ENST00000319783.1	-	7	1900	c.1584T>C	c.(1582-1584)caT>caC	p.H528H	ZNF611_ENST00000595798.1_Silent_p.H459H|ZNF611_ENST00000543227.1_Silent_p.H528H|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Silent_p.H528H|ZNF611_ENST00000602162.1_Silent_p.H459H|ZNF611_ENST00000453741.2_Silent_p.H459H	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GACCTATCTTATGTGTCTCAA	0.368																																						dbGAP											0													144.0	143.0	144.0					19																	53208724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1584T>C	19.37:g.53208724A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H528	ENST00000319783.1	37	c.1584	CCDS12855.1	19																																																																																			ZNF611	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213020		0.368	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	724	0.00	0	A	NM_030972		53208724	53208724	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	silent	599	15.99	114	SNP	0.227	G
ZNF551	90233	genome.wustl.edu	37	19	58199604	58199604	+	Missense_Mutation	SNP	G	G	A	rs141454629		TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:58199604G>A	ENST00000282296.5	+	3	2146	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R638H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATCTAAC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		22329	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													93.0	91.0	92.0					19																	58199604		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1961G>A	19.37:g.58199604G>A	ENSP00000282296:p.Arg654His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R654H	ENST00000282296.5	37	c.1961	CCDS12959.2	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.738	0.137244	0.09032	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.86	-5.71	0.02413	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	N	0.25647	0.755	0.09310	N	1	B	0.29909	0.261	B	0.20577	0.03	T	0.22871	-1.0204	8	0.14252	T	0.57	.	7.3808	0.26854	0.4962:0.1151:0.3887:0.0	.	654	Q7Z340	ZN551_HUMAN	H	654;638	.	ENSP00000282296:R638H	R	+	2	0	ZNF551	62891416	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.934000	0.01552	-1.647000	0.01511	-0.291000	0.09656	CGC	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204519		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	425	0.47	2	G	NM_138347		58199604	58199604	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	422	16.34	83	SNP	0.000	A
ZNF624	57547	genome.wustl.edu	37	17	16526110	16526110	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr17:16526110T>C	ENST00000311331.7	-	6	2181	c.2090A>G	c.(2089-2091)aAa>aGa	p.K697R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCATTGCATTTATAGGGCTT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	dbGAP											0													146.0	140.0	142.0					17																	16526110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2090A>G	17.37:g.16526110T>C	ENSP00000310472:p.Lys697Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K697R	ENST00000311331.7	37	c.2090	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339348	0.24339	.	.	ENSG00000197566	ENST00000311331	T	0.19938	2.11	3.15	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.52364	1.645	0.22081	N	0.999373	B	0.10296	0.003	B	0.09377	0.004	T	0.13255	-1.0516	9	0.62326	D	0.03	.	6.5644	0.22503	0.0:0.0:0.2478:0.7522	.	697	Q9P2J8	ZN624_HUMAN	R	697	ENSP00000310472:K697R	ENSP00000310472:K697R	K	-	2	0	ZNF624	16466835	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.402000	0.07223	1.679000	0.50963	0.528000	0.53228	AAA	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	260	0.38	1	T	XM_047617		16526110	16526110	-1	no_errors	ENST00000311331	ensembl	human	known	69_37n	missense	186	22.18	53	SNP	0.996	C
ZNF675	171392	genome.wustl.edu	37	19	23836782	23836782	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:23836782C>T	ENST00000359788.4	-	4	1121	c.953G>A	c.(952-954)gGc>gAc	p.G318D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	318					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAAGCCTTGCCACATTCTTC	0.368																																						dbGAP											0													52.0	56.0	55.0					19																	23836782		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.953G>A	19.37:g.23836782C>T	ENSP00000352836:p.Gly318Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G318D	ENST00000359788.4	37	c.953	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	6.424	0.446450	0.12223	.	.	ENSG00000197372	ENST00000359788	T	0.58358	0.34	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51669	0.1688	N	0.21240	0.645	0.37196	D	0.90417	D	0.61080	0.989	D	0.63703	0.917	T	0.55903	-0.8067	9	0.59425	D	0.04	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	318	Q8TD23	ZN675_HUMAN	D	318	ENSP00000352836:G318D	ENSP00000352836:G318D	G	-	2	0	ZNF675	23628622	0.553000	0.26513	0.173000	0.22940	0.174000	0.22865	0.939000	0.28978	0.300000	0.22699	0.305000	0.20034	GGC	ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.368	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	240	0.00	0	C	NM_138330		23836782	23836782	-1	no_errors	ENST00000359788	ensembl	human	known	69_37n	missense	138	16.36	27	SNP	1.000	T
ZNF687	57592	genome.wustl.edu	37	1	151261079	151261079	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:151261079delC	ENST00000368879.2	+	3	2289	c.2191delC	c.(2191-2193)cccfs	p.P732fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H733fs*30(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAAGAATCGACCCCCCCATGT	0.577																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											117.0	98.0	105.0					1																	151261079		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2191delC	1.37:g.151261079delC	ENSP00000357874:p.Pro732fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H733fs	ENST00000368879.2	37	c.2191		1																																																																																			ZNF687	-	smart_Znf_C2H2-like	ENSG00000143373		0.577	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		79	0.00	0	C	NM_020832		151261079	151261079	+1	no_errors	ENST00000324048	ensembl	human	known	69_37n	frame_shift_del	45	23.33	14	DEL	0.430	-
ZNF721	170960	genome.wustl.edu	37	4	435676	435676	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr4:435676A>G	ENST00000338977.5	-	2	2592	c.2544T>C	c.(2542-2544)acT>acC	p.T848T	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.T860T			Q8TF20	ZN721_HUMAN	zinc finger protein 721	848					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GTTTCTCTCCAGTATGAATTC	0.398																																						dbGAP											0													58.0	63.0	62.0					4																	435676		2114	4244	6358	-	-	-	SO:0001819	synonymous_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2544T>C	4.37:g.435676A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T860	ENST00000338977.5	37	c.2580		4																																																																																			ZNF721	-	pfscan_Znf_C2H2	ENSG00000182903		0.398	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	130	0.76	1	A	NM_133474		435676	435676	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	silent	125	20.62	33	SNP	0.995	G
ZNF79	7633	genome.wustl.edu	37	9	130206388	130206388	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr9:130206388C>A	ENST00000342483.5	+	5	815	c.409C>A	c.(409-411)Cct>Act	p.P137T	ZNF79_ENST00000543471.1_Missense_Mutation_p.P113T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	137					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGAGATGCCCCCTGGGGATTC	0.512																																						dbGAP											0													95.0	91.0	92.0					9																	130206388		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.409C>A	9.37:g.130206388C>A	ENSP00000362446:p.Pro137Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVW1|Q96NV1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P137T	ENST00000342483.5	37	c.409	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.179413	0.01633	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.06294	3.32;3.32	3.59	-0.856	0.10697	.	.	.	.	.	T	0.01592	0.0051	N	0.01454	-0.855	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	9	0.02654	T	1	.	2.9841	0.05962	0.193:0.432:0.0:0.3749	.	137	Q15937	ZNF79_HUMAN	T	137;113	ENSP00000362446:P137T;ENSP00000438418:P113T	ENSP00000362446:P137T	P	+	1	0	ZNF79	129246209	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.736000	0.04882	-0.432000	0.07297	-0.768000	0.03414	CCT	ZNF79	-	NULL	ENSG00000196152		0.512	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	286	0.00	0	C	NM_007135		130206388	130206388	+1	no_errors	ENST00000342483	ensembl	human	known	69_37n	missense	212	14.11	35	SNP	0.003	A
ZNF791	163049	genome.wustl.edu	37	19	12739852	12739852	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:12739852G>T	ENST00000343325.4	+	4	1671	c.1509G>T	c.(1507-1509)aaG>aaT	p.K503N	ZNF791_ENST00000458122.3_Missense_Mutation_p.K471N|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.K394N|ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AATGCGGGAAGGCCTTTATTT	0.393																																						dbGAP											0													80.0	82.0	81.0					19																	12739852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1509G>T	19.37:g.12739852G>T	ENSP00000342974:p.Lys503Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K503N	ENST00000343325.4	37	c.1509	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234157	0.39498	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.35973	1.28;1.28;1.28	1.83	-2.34	0.06704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61850	0.2380	M	0.92880	3.355	0.22096	N	0.999363	D	0.89917	1.0	D	0.97110	1.0	T	0.52719	-0.8538	9	0.87932	D	0	.	6.7489	0.23475	0.5156:0.0:0.4844:0.0	.	503	Q3KP31	ZN791_HUMAN	N	503;457;471;394	ENSP00000342974:K503N;ENSP00000441761:K471N;ENSP00000441038:K394N	ENSP00000342974:K503N	K	+	3	2	ZNF791	12600852	0.003000	0.15002	0.296000	0.24974	0.974000	0.67602	-0.025000	0.12413	-0.560000	0.06102	-0.339000	0.08088	AAG	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.393	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	152	0.00	0	G	NM_153358		12739852	12739852	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	missense	102	15.00	18	SNP	0.284	T
ZNF800	168850	genome.wustl.edu	37	7	127017265	127017265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr7:127017265G>T	ENST00000393313.1	-	4	867	c.276C>A	c.(274-276)tgC>tgA	p.C92*	ZNF800_ENST00000393312.1_Nonsense_Mutation_p.C92*|ZNF800_ENST00000265827.3_Nonsense_Mutation_p.C92*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GACTTGGTGGGCAGTAGAATT	0.313																																						dbGAP											0													91.0	102.0	98.0					7																	127017265		2203	4295	6498	-	-	-	SO:0001587	stop_gained	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.276C>A	7.37:g.127017265G>T	ENSP00000376989:p.Cys92*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C92*	ENST00000393313.1	37	c.276	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616233	0.87359	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	.	.	.	5.79	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6364	6.4179	0.21728	0.1627:0.0:0.6872:0.15	.	.	.	.	X	92	.	ENSP00000265827:C92X	C	-	3	2	ZNF800	126804501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.789000	0.47813	0.744000	0.32741	0.655000	0.94253	TGC	ZNF800	-	NULL	ENSG00000048405		0.313	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	192	0.00	0	G	NM_176814		127017265	127017265	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	nonsense	142	14.46	24	SNP	1.000	T
ZNF805	390980	genome.wustl.edu	37	19	57765622	57765622	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:57765622G>A	ENST00000414468.2	+	4	1435	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	ZNF805_ENST00000354309.4_Missense_Mutation_p.G346R|ZNF805_ENST00000535550.1_Missense_Mutation_p.G346R	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	479					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(3)|kidney(3)|lung(1)|stomach(1)	9						CATCCACACTGGAGAGAAGCC	0.522																																						dbGAP											0													52.0	53.0	53.0					19																	57765622		692	1591	2283	-	-	-	SO:0001583	missense	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1435G>A	19.37:g.57765622G>A	ENSP00000412999:p.Gly479Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G479R	ENST00000414468.2	37	c.1435	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466490	0.84425	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.26223	1.75;1.75;1.75	4.21	4.21	0.49690	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285654	0.25535	N	0.030015	T	0.39279	0.1072	L	0.28608	0.87	0.45046	D	0.998066	D	0.89917	1.0	D	0.77557	0.99	T	0.34153	-0.9840	10	0.72032	D	0.01	.	15.828	0.78730	0.0:0.0:1.0:0.0	.	479	Q5CZA5	ZN805_HUMAN	R	346;479;346	ENSP00000440067:G346R;ENSP00000412999:G479R;ENSP00000365414:G346R	ENSP00000365414:G346R	G	+	1	0	ZNF805	62457434	.	.	1.000000	0.80357	0.995000	0.86356	.	.	2.322000	0.78497	0.563000	0.77884	GGA	ZNF805	-	pfscan_Znf_C2H2	ENSG00000204524		0.522	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	152	0.00	0	G	NM_001023563		57765622	57765622	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	missense	138	28.87	56	SNP	1.000	A
ZNF833P	401898	genome.wustl.edu	37	19	11796545	11796545	+	lincRNA	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:11796545T>C	ENST00000344893.3	+	0	2544					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TTCATAGTCATGAAGGGGTTC	0.378																																						dbGAP											0													62.0	65.0	64.0					19																	11796545		2203	4298	6501	-	-	-			0			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796545T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-	ENSG00000197332		0.378	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	128	0.00	0	T	NM_001013691		11796545	11796545	+1	no_errors	ENST00000344893	ensembl	human	known	69_37n	rna	89	16.82	18	SNP	0.178	C
ZNF93	81931	genome.wustl.edu	37	19	20044952	20044952	+	Silent	SNP	C	C	A	rs527897755	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:20044952C>A	ENST00000343769.5	+	4	1216	c.1188C>A	c.(1186-1188)ccC>ccA	p.P396P	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GAGAGAAGCCCTACAAATGTG	0.393																																						dbGAP											0													65.0	68.0	67.0					19																	20044952		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1188C>A	19.37:g.20044952C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P396	ENST00000343769.5	37	c.1188	CCDS32973.1	19																																																																																			ZNF93	-	pfscan_Znf_C2H2	ENSG00000184635		0.393	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	438	0.00	0	C	NM_031218		20044952	20044952	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	silent	245	26.20	87	SNP	0.878	A
ZNF98	148198	genome.wustl.edu	37	19	22575695	22575695	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:22575695delT	ENST00000357774.5	-	4	463	c.342delA	c.(340-342)aaafs	p.K114fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CACGTCCACATTTTTTATATG	0.323																																						dbGAP											0													63.0	51.0	55.0					19																	22575695		1946	4159	6105	-	-	-	SO:0001589	frameshift_variant	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.342delA	19.37:g.22575695delT	ENSP00000350418:p.Lys114fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K114fs	ENST00000357774.5	37	c.342	CCDS46031.1	19																																																																																			ZNF98	-	NULL	ENSG00000197360		0.323	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	76	0.00	0	T	NM_001098626		22575695	22575695	-1	no_errors	ENST00000357774	ensembl	human	known	69_37n	frame_shift_del	59	21.05	16	DEL	0.024	-
ZNF850	342892	genome.wustl.edu	37	19	37239077	37239077	+	Silent	SNP	A	A	G			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:37239077A>G	ENST00000591344.1	-	5	3023	c.2865T>C	c.(2863-2865)tgT>tgC	p.C955C	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CACATGTCTTACATTCATAGG	0.423																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2865T>C	19.37:g.37239077A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C955	ENST00000591344.1	37	c.2865	CCDS59379.1	19																																																																																			ZNF850	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267041		0.423	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	48	0.00	0	A	XM_001720258		37239077	37239077	-1	no_errors	ENST00000591344	ensembl	human	known	69_37n	silent	42	20.00	11	SNP	0.286	G
ZNF816	125893	genome.wustl.edu	37	19	53453583	53453583	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:53453583G>A	ENST00000357666.4	-	5	1745	c.1445C>T	c.(1444-1446)aCa>aTa	p.T482I	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.T482I|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTCATTACATGTGTAAGGTTT	0.408																																						dbGAP											0													102.0	102.0	102.0					19																	53453583		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1445C>T	19.37:g.53453583G>A	ENSP00000350295:p.Thr482Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T482I	ENST00000357666.4	37	c.1445	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	3.291	-0.144898	0.06627	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.19938	2.11;2.11	1.85	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	N	0.16368	0.405	0.09310	N	1	B	0.32071	0.355	B	0.41412	0.356	T	0.43081	-0.9413	9	0.59425	D	0.04	.	8.8276	0.35065	0.0:0.0:0.7054:0.2946	.	482	Q0VGE8	ZN816_HUMAN	I	482	ENSP00000350295:T482I;ENSP00000403266:T482I	ENSP00000350295:T482I	T	-	2	0	ZNF816	58145395	0.000000	0.05858	0.434000	0.26772	0.085000	0.17905	-0.854000	0.04299	-0.008000	0.14320	-0.823000	0.03104	ACA	ZNF816	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	196	0.00	0	G	NM_001031665		53453583	53453583	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	missense	162	29.26	67	SNP	0.024	A
ZNF814	730051	genome.wustl.edu	37	19	58384947	58384947	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr19:58384947T>C	ENST00000435989.2	-	3	2045	c.1811A>G	c.(1810-1812)tAt>tGt	p.Y604C	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	604					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCCACACTCATAAGGCCTCTC	0.473																																						dbGAP											0													87.0	71.0	76.0					19																	58384947		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1811A>G	19.37:g.58384947T>C	ENSP00000410545:p.Tyr604Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y604C	ENST00000435989.2	37	c.1811	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374557	0.42105	.	.	ENSG00000204514	ENST00000435989	T	0.25414	1.8	2.18	-0.293	0.12835	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27419	0.0673	M	0.85462	2.755	0.09310	N	1	P	0.48694	0.914	B	0.40066	0.318	T	0.24048	-1.0171	9	0.66056	D	0.02	.	2.7189	0.05195	0.3942:0.1306:0.0:0.4752	.	604	B7Z6K7	ZN814_HUMAN	C	604	ENSP00000410545:Y604C	ENSP00000410545:Y604C	Y	-	2	0	ZNF814	63076759	0.000000	0.05858	0.004000	0.12327	0.529000	0.34654	-0.067000	0.11579	-0.272000	0.09259	0.254000	0.18369	TAT	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.473	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	215	0.00	0	T	XM_001725708		58384947	58384947	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	missense	177	26.56	64	SNP	0.032	C
ZP4	57829	genome.wustl.edu	37	1	238048751	238048751	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr1:238048751C>T	ENST00000366570.4	-	8	1258	c.1100G>A	c.(1099-1101)tGt>tAt	p.C367Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	367	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTTGCCCAACACTGTTGTAG	0.537																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													67.0	69.0	68.0					1																	238048751		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1100G>A	1.37:g.238048751C>T	ENSP00000355529:p.Cys367Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.C367Y	ENST00000366570.4	37	c.1100	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403142	0.42613	.	.	ENSG00000116996	ENST00000366570	D	0.94650	-3.48	4.98	4.06	0.47325	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	10	0.87932	D	0	-12.1853	12.4199	0.55514	0.1693:0.8307:0.0:0.0	.	367	Q12836	ZP4_HUMAN	Y	367	ENSP00000355529:C367Y	ENSP00000355529:C367Y	C	-	2	0	ZP4	236115374	1.000000	0.71417	0.444000	0.26895	0.161000	0.22273	4.745000	0.62125	1.079000	0.41038	0.655000	0.94253	TGT	ZP4	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000116996		0.537	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	81	0.00	0	C			238048751	238048751	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	missense	61	41.35	43	SNP	0.999	T
ZRANB1	54764	genome.wustl.edu	37	10	126671767	126671767	+	Silent	SNP	G	G	A	rs75293113	byFrequency	TCGA-AN-A0AK-01A-21W-A019-09	TCGA-AN-A0AK-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	30870af5-e46e-47c6-b7fb-af6f4c91861e	9243b0f3-5c29-4922-902c-8348cd53537c	g.chr10:126671767G>A	ENST00000359653.4	+	7	1943	c.1572G>A	c.(1570-1572)acG>acA	p.T524T	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	524	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T524T(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGGAGCAGACGCACATTTTTG	0.363																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											96.0	102.0	100.0					10																	126671767		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1572G>A	10.37:g.126671767G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.T524	ENST00000359653.4	37	c.1572	CCDS7642.1	10																																																																																			ZRANB1	-	pfam_OTU,pfscan_OTU	ENSG00000019995		0.363	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	194	0.00	0	G	NM_017580		126671767	126671767	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	silent	99	41.07	69	SNP	0.940	A
