#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
ADAD1	132612	genome.wustl.edu	37	4	123332537	123332538	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr4:123332537_123332538delAA	ENST00000296513.2	+	9	1194_1195	c.1009_1010delAA	c.(1009-1011)aagfs	p.K337fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.K319fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.K326fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	337	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGCCCAGATTAAGTCACAGTTG	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1009_1010delAA	4.37:g.123332537_123332538delAA	ENSP00000296513:p.Lys337fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.K337fs	ENST00000296513.2	37	c.1009_1010	CCDS34058.1	4																																																																																			ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.332	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	66	0.00	0	AA	NM_139243		123332537	123332538	+1	no_errors	ENST00000296513	ensembl	human	known	69_37n	frame_shift_del	85	26.89	32	DEL	1.000:1.000	-
ADAM11	4185	genome.wustl.edu	37	17	42850750	42850750	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:42850750G>A	ENST00000200557.6	+	11	1116	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R116Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ATGGTCTACCGACGGGAGGGT	0.617																																						dbGAP											0													88.0	80.0	83.0					17																	42850750		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.947G>A	17.37:g.42850750G>A	ENSP00000200557:p.Arg316Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14808|Q14809|Q14810	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R316Q	ENST00000200557.6	37	c.947	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.600900	0.96614	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.68903	-0.36;-0.36	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	D	0.83031	0.5166	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85951	0.1464	10	0.87932	D	0	.	16.7331	0.85440	0.0:0.0:1.0:0.0	.	116;316	B4DKD2;O75078	.;ADA11_HUMAN	Q	316;116;216	ENSP00000200557:R316Q;ENSP00000443773:R116Q	ENSP00000200557:R316Q	R	+	2	0	ADAM11	40206276	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.754000	0.85163	2.478000	0.83669	0.561000	0.74099	CGA	ADAM11	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000073670		0.617	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	29	0.00	0	G	NM_002390		42850750	42850750	+1	no_errors	ENST00000200557	ensembl	human	known	69_37n	missense	16	56.76	21	SNP	1.000	A
ANKRD12	23253	genome.wustl.edu	37	18	9254875	9254875	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr18:9254875A>G	ENST00000262126.4	+	9	1850	c.1610A>G	c.(1609-1611)cAt>cGt	p.H537R	ANKRD12_ENST00000383440.2_Missense_Mutation_p.H514R|ANKRD12_ENST00000400020.3_Missense_Mutation_p.H514R	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	537						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						CATTTATTTCATATTTCCACT	0.343																																						dbGAP											0													51.0	50.0	50.0					18																	9254875		2203	4294	6497	-	-	-	SO:0001583	missense	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.1610A>G	18.37:g.9254875A>G	ENSP00000262126:p.His537Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H537R	ENST00000262126.4	37	c.1610	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844284	0.51164	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92099	-2.97;-2.97	5.86	5.86	0.93980	.	0.100050	0.64402	D	0.000001	D	0.94138	0.8120	L	0.56769	1.78	0.80722	D	1	D;D;P	0.63046	0.992;0.96;0.933	P;P;B	0.57720	0.826;0.56;0.357	D	0.94500	0.7709	10	0.66056	D	0.02	-19.05	16.2612	0.82547	1.0:0.0:0.0:0.0	.	164;514;537	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	R	514;537;244	ENSP00000372932:H514R;ENSP00000262126:H537R	ENSP00000262126:H537R	H	+	2	0	ANKRD12	9244875	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.105000	0.77031	2.244000	0.73946	0.477000	0.44152	CAT	ANKRD12	-	NULL	ENSG00000101745		0.343	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	20	0.00	0	A	NM_015208		9254875	9254875	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	18	43.75	14	SNP	1.000	G
ANXA10	11199	genome.wustl.edu	37	4	169085364	169085364	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr4:169085364G>A	ENST00000359299.3	+	5	511	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	109						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGGCACTGATGAGAATTGCCT	0.353																																						dbGAP											0													69.0	65.0	66.0					4																	169085364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.325G>A	4.37:g.169085364G>A	ENSP00000352248:p.Glu109Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.E109K	ENST00000359299.3	37	c.325	CCDS34096.1	4	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657218	0.29425	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.05081	3.5	5.49	4.65	0.58169	Annexin repeat, conserved site (1);	0.000000	0.64402	D	0.000001	T	0.12603	0.0306	M	0.81497	2.545	0.43879	D	0.996492	B	0.18013	0.025	B	0.20184	0.028	T	0.01541	-1.1329	10	0.87932	D	0	.	13.2564	0.60081	0.078:0.0:0.922:0.0	.	109	Q9UJ72	ANX10_HUMAN	K	109	ENSP00000352248:E109K	ENSP00000352248:E109K	E	+	1	0	ANXA10	169321939	1.000000	0.71417	0.710000	0.30468	0.036000	0.12997	6.957000	0.76019	1.330000	0.45394	0.650000	0.86243	GAG	ANXA10	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin	ENSG00000109511		0.353	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	HGNC	protein_coding	OTTHUMT00000364348.2	60	0.00	0	G	NM_007193		169085364	169085364	+1	no_errors	ENST00000359299	ensembl	human	known	69_37n	missense	76	42.42	56	SNP	0.994	A
APEX1	328	genome.wustl.edu	37	14	20924089	20924089	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr14:20924089G>A	ENST00000216714.3	+	3	343	c.75G>A	c.(73-75)aaG>aaA	p.K25K	APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Silent_p.K25K|APEX1_ENST00000555414.1_Silent_p.K25K|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Intron|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	25	Necessary for interaction with NPM1 and for efficient rRNA binding.|Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AGGCCAAGAAGAGTAAGACGG	0.493								Other BER factors																														dbGAP											0													38.0	47.0	44.0					14																	20924089		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.75G>A	14.37:g.20924089G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q969L5|Q99775	Missense_Mutation	SNP	NULL	p.E49K	ENST00000216714.3	37	c.145	CCDS9550.1	14																																																																																			APEX1	-	NULL	ENSG00000100823		0.493	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	71	0.00	0	G	NM_001641		20924089	20924089	+1	no_errors	ENST00000554325	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11206973	11206973	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:11206973A>C	ENST00000337414.4	-	4	1824	c.952T>G	c.(952-954)Ttt>Gtt	p.F318V	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F143V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F127V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F350V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F115V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F115V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F318V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	318					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTATTTCCAAATGGGAGGAGG	0.473																																						dbGAP											0													121.0	92.0	102.0					X																	11206973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.952T>G	X.37:g.11206973A>C	ENSP00000338967:p.Phe318Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F318V	ENST00000337414.4	37	c.952	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084856	0.76642	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24350	1.88;1.86;1.86;1.88;1.88;1.88;1.95;2.0	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000034	T	0.39963	0.1098	L	0.52573	1.65	0.80722	D	1	P;B;D;D;D	0.64830	0.78;0.314;0.989;0.973;0.994	B;B;P;P;P	0.61533	0.265;0.173;0.805;0.706;0.89	T	0.11299	-1.0593	10	0.16896	T	0.51	.	14.9248	0.70868	1.0:0.0:0.0:0.0	.	127;115;318;318;318	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	143;115;115;318;154;318;127;350	ENSP00000438135:F143V;ENSP00000370112:F115V;ENSP00000302312:F115V;ENSP00000338967:F318V;ENSP00000370093:F154V;ENSP00000370094:F318V;ENSP00000389394:F127V;ENSP00000370108:F350V	ENSP00000302312:F115V	F	-	1	0	ARHGAP6	11116894	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.610000	0.67668	1.907000	0.55213	0.486000	0.48141	TTT	ARHGAP6	-	NULL	ENSG00000047648		0.473	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	126	0.00	0	A	NM_013427		11206973	11206973	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	missense	114	25.00	38	SNP	1.000	C
ARHGEF1	9138	genome.wustl.edu	37	19	42399493	42399493	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:42399493C>T	ENST00000354532.3	+	12	1097	c.949C>T	c.(949-951)Cct>Tct	p.P317S	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.P317S|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P284S|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P332S|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P299S	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	317					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TATCGGGGCTCCTGGGCAGGA	0.652																																						dbGAP											0													71.0	78.0	75.0					19																	42399493		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.949C>T	19.37:g.42399493C>T	ENSP00000346532:p.Pro317Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P299S	ENST00000354532.3	37	c.895	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530780	0.45073	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.64085	0.08;0.06;0.07;-0.08	4.99	-2.64	0.06114	.	0.850538	0.10490	N	0.668507	T	0.61974	0.2390	L	0.29908	0.895	0.09310	N	1	D;D;D;B;D	0.89917	0.976;0.986;1.0;0.184;1.0	P;P;D;B;D	0.87578	0.626;0.793;0.998;0.029;0.996	T	0.53844	-0.8381	10	0.72032	D	0.01	-0.4295	4.7983	0.13282	0.0:0.3977:0.2724:0.3299	.	299;332;284;317;377	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	S	317;284;353;332;299	ENSP00000346532:P317S;ENSP00000344429:P284S;ENSP00000337261:P332S;ENSP00000367394:P299S	ENSP00000323044:P353S	P	+	1	0	ARHGEF1	47091333	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.987000	0.03743	-0.563000	0.06078	-0.355000	0.07637	CCT	ARHGEF1	-	NULL	ENSG00000076928		0.652	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	77	0.00	0	C	NM_199002		42399493	42399493	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	0.001	T
BACH2	60468	genome.wustl.edu	37	6	90718472	90718472	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr6:90718472C>T	ENST00000257749.4	-	6	799	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	BACH2_ENST00000537989.1_Missense_Mutation_p.R31Q|BACH2_ENST00000343122.3_Missense_Mutation_p.R31Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	31						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATCCTTTTTCCGCTGGTCATT	0.542																																						dbGAP											0													160.0	150.0	153.0					6																	90718472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.92G>A	6.37:g.90718472C>T	ENSP00000257749:p.Arg31Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	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.R31Q	ENST00000257749.4	37	c.92	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.496452	0.96355	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.33	5.33	0.75918	BTB/POZ (1);BTB/POZ fold (2);	0.061018	0.64402	D	0.000002	T	0.53932	0.1827	M	0.92026	3.265	0.58432	D	0.999996	D	0.89917	1.0	D	0.66602	0.945	T	0.66156	-0.5994	10	0.87932	D	0	-1.7635	19.0228	0.92921	0.0:1.0:0.0:0.0	.	31	Q9BYV9	BACH2_HUMAN	Q	31	ENSP00000257749:R31Q;ENSP00000437473:R31Q;ENSP00000345642:R31Q;ENSP00000384145:R31Q;ENSP00000397668:R31Q	ENSP00000257749:R31Q	R	-	2	0	BACH2	90775193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.507000	0.84556	0.591000	0.81541	CGG	BACH2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000112182		0.542	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	109	0.00	0	C	NM_021813		90718472	90718472	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	106	45.41	89	SNP	1.000	T
BCORL1	63035	genome.wustl.edu	37	X	129147257	129147259	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:129147257_129147259delAGA	ENST00000218147.7	+	4	706_708	c.509_511delAGA	c.(508-513)gagaag>gag	p.K171del	BCORL1_ENST00000359304.2_In_Frame_Del_p.K171del|BCORL1_ENST00000303743.5_In_Frame_Del_p.K171del|BCORL1_ENST00000540052.1_In_Frame_Del_p.K171del			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	171					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						GGTGTTGGAGAGAAGAATACTTT	0.552																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	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.509_511delAGA	X.37:g.129147260_129147262delAGA	ENSP00000218147:p.Lys171del	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K171in_frame_del	ENST00000218147.7	37	c.509_511	CCDS14616.1	X																																																																																			BCORL1	-	NULL	ENSG00000085185		0.552	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	104	0.00	0	AGA	NM_021946		129147257	129147259	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	in_frame_del	52	14.52	9	DEL	0.988:0.981:0.995	-
CACNA1C	775	genome.wustl.edu	37	12	2558201	2558201	+	Silent	SNP	C	C	A	rs369673473		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr12:2558201C>A	ENST00000347598.4	+	4	537	c.537C>A	c.(535-537)atC>atA	p.I179I	CACNA1C_ENST00000344100.3_Silent_p.I179I|CACNA1C_ENST00000399601.1_Silent_p.I179I|CACNA1C_ENST00000399597.1_Silent_p.I179I|CACNA1C_ENST00000399641.1_Silent_p.I179I|CACNA1C_ENST00000399617.1_Silent_p.I179I|CACNA1C_ENST00000406454.3_Silent_p.I179I|CACNA1C_ENST00000399649.1_Silent_p.I179I|CACNA1C_ENST00000399644.1_Silent_p.I179I|CACNA1C_ENST00000399621.1_Silent_p.I179I|CACNA1C_ENST00000327702.7_Silent_p.I179I|CACNA1C_ENST00000399638.1_Silent_p.I179I|CACNA1C_ENST00000399634.1_Silent_p.I179I|CACNA1C_ENST00000402845.3_Silent_p.I179I|CACNA1C_ENST00000480911.1_Silent_p.I179I|CACNA1C_ENST00000399655.1_Silent_p.I179I|CACNA1C_ENST00000399637.1_Silent_p.I179I|CACNA1C_ENST00000399595.1_Silent_p.I179I|CACNA1C_ENST00000399603.1_Silent_p.I179I|CACNA1C_ENST00000399606.1_Silent_p.I179I|CACNA1C_ENST00000399591.1_Silent_p.I179I|CACNA1C_ENST00000399629.1_Silent_p.I179I|CACNA1C_ENST00000335762.5_Silent_p.I179I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	179					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAAAAGTAATCGCCTATGGAC	0.393																																						dbGAP											0													92.0	86.0	88.0					12																	2558201		1836	4081	5917	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.537C>A	12.37:g.2558201C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I179	ENST00000347598.4	37	c.537	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.393	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	79	0.00	0	C	NM_000719		2558201	2558201	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	97	20.49	25	SNP	0.997	A
CAD	790	genome.wustl.edu	37	2	27445851	27445851	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:27445851G>T	ENST00000403525.1	+	6	899	c.755G>T	c.(754-756)tGc>tTc	p.C252F	CAD_ENST00000264705.4_Missense_Mutation_p.C252F			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)	p.C252Y(1)		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)					TTTGGGATCTGCCTGGGACAC	0.547																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											91.0	79.0	83.0					2																	27445851		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.755G>T	2.37:g.27445851G>T	ENSP00000384510:p.Cys252Phe	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.C252F	ENST00000403525.1	37	c.755		2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405529	0.83230	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99928	-8.1;-8.1	5.04	5.04	0.67666	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	H	0.99949	5.025	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.96272	0.9199	10	0.72032	D	0.01	-0.1294	16.2249	0.82285	0.0:0.0:1.0:0.0	.	252;252	F8VPD4;P27708	.;PYR1_HUMAN	F	252	ENSP00000264705:C252F;ENSP00000384510:C252F	ENSP00000264705:C252F	C	+	2	0	CAD	27299355	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.638000	0.54332	2.501000	0.84356	0.491000	0.48974	TGC	CAD	-	pfam_GATASE_1,tigrfam_CarbamoylP_synth_ssu	ENSG00000084774		0.547	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	64	0.00	0	G			27445851	27445851	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7808966	7808966	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:7808966delG	ENST00000330494.7	+	27	4316	c.4166delG	c.(4165-4167)cggfs	p.R1389fs	CHD3_ENST00000358181.4_Frame_Shift_Del_p.R1389fs|CHD3_ENST00000380358.4_Frame_Shift_Del_p.R1448fs|SCARNA21_ENST00000517026.1_RNA	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1389					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGCAGCTCCGGAATGAGAAA	0.577																																						dbGAP											0													38.0	31.0	33.0					17																	7808966		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4166delG	17.37:g.7808966delG	ENSP00000332628:p.Arg1389fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N1390fs	ENST00000330494.7	37	c.4166	CCDS32554.1	17																																																																																			CHD3	-	pfam_DUF1086	ENSG00000170004		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	110	0.00	0	G	NM_001005273		7808966	7808966	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
CLDN17	26285	genome.wustl.edu	37	21	31538298	31538298	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr21:31538298G>A	ENST00000286808.3	-	1	673	c.638C>T	c.(637-639)aCg>aTg	p.T213M		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	213					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T213M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AAGCATTGTCGTATTTCTTCG	0.443																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											251.0	240.0	244.0					21																	31538298		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.638C>T	21.37:g.31538298G>A	ENSP00000286808:p.Thr213Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.T213M	ENST00000286808.3	37	c.638	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	G	5.019	0.189120	0.09547	.	.	ENSG00000156282	ENST00000286808	T	0.60548	0.18	4.52	-9.05	0.00730	.	1.680310	0.02960	N	0.143057	T	0.33469	0.0864	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28650	-1.0037	10	0.44086	T	0.13	.	10.1202	0.42616	0.2524:0.2899:0.4577:0.0	.	213	P56750	CLD17_HUMAN	M	213	ENSP00000286808:T213M	ENSP00000286808:T213M	T	-	2	0	CLDN17	30460169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.973000	0.03798	-1.989000	0.00979	-2.251000	0.00283	ACG	CLDN17	-	NULL	ENSG00000156282		0.443	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	151	0.00	0	G	NM_012131		31538298	31538298	-1	no_errors	ENST00000286808	ensembl	human	known	69_37n	missense	73	66.20	143	SNP	0.000	A
CLSTN2	64084	genome.wustl.edu	37	3	139894828	139894828	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:139894828C>T	ENST00000458420.3	+	2	335	c.145C>T	c.(145-147)Cat>Tat	p.H49Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACTTCATATCATGGAGTCAT	0.388										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	dbGAP											0													106.0	105.0	105.0					3																	139894828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.145C>T	3.37:g.139894828C>T	ENSP00000402460:p.His49Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H49Y	ENST00000458420.3	37	c.145	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184074	0.78677	.	.	ENSG00000158258	ENST00000458420	T	0.47528	0.84	5.6	4.71	0.59529	Cadherin (3);Cadherin-like (1);	0.077693	0.48286	D	0.000195	T	0.53110	0.1776	M	0.74258	2.255	0.48511	D	0.999661	D	0.55385	0.971	P	0.46049	0.502	T	0.57063	-0.7875	10	0.35671	T	0.21	1.0194	14.5895	0.68354	0.0:0.8529:0.1471:0.0	.	49	Q9H4D0	CSTN2_HUMAN	Y	49	ENSP00000402460:H49Y	ENSP00000402460:H49Y	H	+	1	0	CLSTN2	141377518	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.887000	0.75616	1.467000	0.48044	0.650000	0.86243	CAT	CLSTN2	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000158258		0.388	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	82	0.00	0	C	NM_022131		139894828	139894828	+1	no_errors	ENST00000458420	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	1.000	T
COL11A1	1301	genome.wustl.edu	37	1	103540280	103540280	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:103540280C>A	ENST00000370096.3	-	4	857	c.545G>T	c.(544-546)tGt>tTt	p.C182F	COL11A1_ENST00000353414.4_Missense_Mutation_p.C182F|COL11A1_ENST00000512756.1_Missense_Mutation_p.C182F|COL11A1_ENST00000358392.2_Missense_Mutation_p.C182F	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	182	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTTACAATCAACAAT	0.373																																						dbGAP											0													169.0	146.0	154.0					1																	103540280		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.545G>T	1.37:g.103540280C>A	ENSP00000359114:p.Cys182Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	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.C182F	ENST00000370096.3	37	c.545	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398535	0.62177	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92;3.92	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.34950	-0.9808	10	0.87932	D	0	.	19.9023	0.96990	0.0:1.0:0.0:0.0	.	182;182;182;182	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	F	182;182;182;182;182;109	ENSP00000359114:C182F;ENSP00000351163:C182F;ENSP00000302551:C182F;ENSP00000426533:C182F;ENSP00000408640:C182F;ENSP00000410177:C109F	ENSP00000302551:C182F	C	-	2	0	COL11A1	103312868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.693000	0.91896	0.650000	0.86243	TGT	COL11A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000060718		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	102	0.00	0	C	NM_080630		103540280	103540280	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	missense	178	34.67	95	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75893097	75893097	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr6:75893097G>A	ENST00000322507.8	-	10	1869	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.G520G|COL12A1_ENST00000483888.2_Silent_p.G520G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	520	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCATTGCTTTGCCAGTATTTG	0.373																																						dbGAP											0													144.0	140.0	142.0					6																	75893097		1878	4095	5973	-	-	-	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1560C>T	6.37:g.75893097G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G520	ENST00000322507.8	37	c.1560	CCDS43482.1	6																																																																																			COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	65	0.00	0	G	NM_004370		75893097	75893097	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	silent	75	27.88	29	SNP	1.000	A
DCAF8L2	347442	genome.wustl.edu	37	X	27765411	27765411	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:27765411G>A	ENST00000451261.2	+	5	798	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	133	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggagg	0.572																																						dbGAP											0													17.0	16.0	16.0					X																	27765411		692	1587	2279	-	-	-	SO:0001819	synonymous_variant	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.399G>A	X.37:g.27765411G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E133	ENST00000451261.2	37	c.399	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.572	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	11	0.00	0	G	XM_293354		27765411	27765411	+1	no_errors	ENST00000451261	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.000	A
CYSLTR1	10800	genome.wustl.edu	37	X	77528896	77528896	+	Silent	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:77528896G>T	ENST00000373304.3	-	3	640	c.348C>A	c.(346-348)gcC>gcA	p.A116A		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	116					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAGCTCATGGCTGTCATAA	0.408																																						dbGAP											0													62.0	52.0	56.0					X																	77528896		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.348C>A	X.37:g.77528896G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.A116	ENST00000373304.3	37	c.348	CCDS14439.1	X																																																																																			CYSLTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173198		0.408	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	37	0.00	0	G			77528896	77528896	-1	no_errors	ENST00000373304	ensembl	human	known	69_37n	silent	73	20.65	19	SNP	1.000	T
DDX6	1656	genome.wustl.edu	37	11	118629524	118629524	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr11:118629524C>T	ENST00000526070.2	-	9	1312	c.952G>A	c.(952-954)Gag>Aag	p.E318K	DDX6_ENST00000534980.1_Missense_Mutation_p.E318K|DDX6_ENST00000264018.4_Missense_Mutation_p.E318K	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	318	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|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)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTTTGGCGCTCAGTTACATAT	0.453			T	IGH@	B-NHL																																	dbGAP		Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0													129.0	129.0	129.0					11																	118629524		1904	4117	6021	-	-	-	SO:0001583	missense	0			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.952G>A	11.37:g.118629524C>T	ENSP00000433704:p.Glu318Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5D048	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.E318K	ENST00000526070.2	37	c.952	CCDS44751.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.722669	0.96847	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.04275	3.66;3.66;3.66	5.9	5.9	0.94986	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.38953	1.18	0.80722	D	1	P	0.50943	0.94	P	0.47786	0.557	T	0.01062	-1.1464	10	0.87932	D	0	.	19.8651	0.96802	0.0:1.0:0.0:0.0	.	318	P26196	DDX6_HUMAN	K	318	ENSP00000264018:E318K;ENSP00000442266:E318K;ENSP00000433704:E318K	ENSP00000264018:E318K	E	-	1	0	DDX6	118134734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.790000	0.95986	0.650000	0.86243	GAG	DDX6	-	pfscan_Helicase_C	ENSG00000110367		0.453	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DDX6	HGNC	protein_coding	OTTHUMT00000389647.2	72	0.00	0	C	NM_004397		118629524	118629524	-1	no_errors	ENST00000264018	ensembl	human	known	69_37n	missense	114	14.29	19	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50146532	50146532	+	RNA	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:50146532G>A	ENST00000376025.2	-	0	1201							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATAGACAATGTATTCCACTT	0.468																																						dbGAP											0													140.0	137.0	138.0					X																	50146532		1972	4159	6131	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146532G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.468	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	150	0.00	0	G	NM_001013742		50146532	50146532	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	96	41.82	69	SNP	0.999	A
DVL2	1856	genome.wustl.edu	37	17	7129292	7129292	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:7129292G>A	ENST00000005340.5	-	15	2385	c.2103C>T	c.(2101-2103)gcC>gcT	p.A701A	DVL2_ENST00000575458.1_Silent_p.A695A|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	701					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TGACTGGAGGGGCCCCCGGAG	0.647																																						dbGAP											0													33.0	41.0	38.0					17																	7129292		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2103C>T	17.37:g.7129292G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,prints_Dishevelled_2,prints_Dishevelled,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ	p.A701	ENST00000005340.5	37	c.2103	CCDS11091.1	17																																																																																			DVL2	-	pfam_Dishevelled_C-dom	ENSG00000004975		0.647	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	22	0.00	0	G	NM_004422		7129292	7129292	-1	no_errors	ENST00000005340	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.931	A
DZIP1L	199221	genome.wustl.edu	37	3	137807223	137807223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:137807223G>A	ENST00000327532.2	-	6	1359	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Nonsense_Mutation_p.Q333*	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	333					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CAGCTCACCTGAATTTCTGTC	0.498																																						dbGAP											0													65.0	54.0	58.0					3																	137807223		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.997C>T	3.37:g.137807223G>A	ENSP00000332148:p.Gln333*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUG5|Q96M38	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.Q333*	ENST00000327532.2	37	c.997	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.267273	0.95399	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	.	.	.	5.2	4.3	0.51218	.	0.095761	0.42964	D	0.000633	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-19.707	12.7617	0.57367	0.0:0.1655:0.8345:0.0	.	.	.	.	X	333	.	ENSP00000332148:Q333X	Q	-	1	0	DZIP1L	139289913	0.997000	0.39634	0.813000	0.32504	0.056000	0.15407	3.180000	0.50895	1.136000	0.42199	0.563000	0.77884	CAG	DZIP1L	-	NULL	ENSG00000158163		0.498	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	53	0.00	0	G	NM_173543		137807223	137807223	-1	no_errors	ENST00000327532	ensembl	human	known	69_37n	nonsense	38	32.14	18	SNP	0.949	A
EFR3B	22979	genome.wustl.edu	37	2	25314227	25314227	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:25314227G>A	ENST00000403714.3	+	2	224	c.41G>A	c.(40-42)aGg>aAg	p.R14K	EFR3B_ENST00000401432.3_Missense_Mutation_p.R14K|EFR3B_ENST00000402191.1_5'UTR	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	14										endometrium(1)	1						CTACGCCCCAGGTACAAAAGG	0.582																																						dbGAP											0													136.0	117.0	123.0					2																	25314227		692	1591	2283	-	-	-	SO:0001583	missense	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.41G>A	2.37:g.25314227G>A	ENSP00000384081:p.Arg14Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPL8|Q86XU6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R14K	ENST00000403714.3	37	c.41	CCDS46231.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.100917	0.94245	.	.	ENSG00000084710	ENST00000401432;ENST00000403714	T;T	0.20332	2.08;2.08	5.2	4.29	0.51040	Armadillo-type fold (1);	0.057862	0.64402	D	0.000003	T	0.40570	0.1122	M	0.74258	2.255	0.80722	D	1	B;P	0.50710	0.034;0.938	B;P	0.58130	0.059;0.833	T	0.36335	-0.9752	10	0.87932	D	0	-16.9987	11.814	0.52199	0.0888:0.0:0.9112:0.0	.	14;14	Q9Y2G0;Q9Y2G0-3	EFR3B_HUMAN;.	K	14	ENSP00000386082:R14K;ENSP00000384081:R14K	ENSP00000386082:R14K	R	+	2	0	EFR3B	25167731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.891000	0.92485	1.356000	0.45884	0.655000	0.94253	AGG	EFR3B	-	superfamily_ARM-type_fold	ENSG00000084710		0.582	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	232	0.00	0	G	NM_014971		25314227	25314227	+1	no_errors	ENST00000403714	ensembl	human	known	69_37n	missense	133	30.73	59	SNP	1.000	A
ERICH1	157697	genome.wustl.edu	37	8	614677	614677	+	Splice_Site	SNP	C	C	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr8:614677C>G	ENST00000262109.7	-	6	1336		c.e6-1		ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGGCATGGTCTAGAAAGCAa	0.343																																						dbGAP											0													77.0	80.0	79.0					8																	614677		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1259-1G>C	8.37:g.614677C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2J9|Q9P063	Splice_Site	SNP	-	e6-1	ENST00000262109.7	37	c.1259-1	CCDS5955.1	8	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894024	0.52121	.	.	ENSG00000104714	ENST00000262109	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7242	0.77740	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERICH1	604677	1.000000	0.71417	0.928000	0.36995	0.623000	0.37688	3.981000	0.56902	2.785000	0.95823	0.655000	0.94253	.	ERICH1	-	-	ENSG00000104714		0.343	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERICH1	HGNC	protein_coding	OTTHUMT00000251228.3	130	0.00	0	C	NM_207332	Intron	614677	614677	-1	no_errors	ENST00000262109	ensembl	human	known	69_37n	splice_site	151	16.11	29	SNP	0.995	G
FAM65C	140876	genome.wustl.edu	37	20	49219050	49219050	+	Silent	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr20:49219050C>T	ENST00000327979.2	-	13	1617	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	FAM65C_ENST00000535356.1_Silent_p.E406E|FAM65C_ENST00000045083.2_Silent_p.E402E			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	402										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAGTCCATCTCAGGCAGCT	0.642																																						dbGAP											0													39.0	38.0	38.0					20																	49219050		2093	4129	6222	-	-	-	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1206G>A	20.37:g.49219050C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.E406	ENST00000327979.2	37	c.1218	CCDS13431.2	20																																																																																			FAM65C	-	NULL	ENSG00000042062		0.642	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	10	0.00	0	C			49219050	49219050	-1	no_errors	ENST00000535356	ensembl	human	known	69_37n	silent	3	66.67	6	SNP	0.985	T
SPATA31A2	642265	genome.wustl.edu	37	9	39890233	39890233	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr9:39890233G>T	ENST00000456183.2	+	4	3249	c.3220G>T	c.(3220-3222)Gac>Tac	p.D1074Y		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	1074					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGCTACATGACCTTATGGC	0.547																																						dbGAP											0													5.0	4.0	5.0					9																	39890233		1529	3469	4998	-	-	-	SO:0001583	missense	0					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A2"""	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.3220G>T	9.37:g.39890233G>T	ENSP00000406957:p.Asp1074Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D1074Y	ENST00000456183.2	37	c.3220	CCDS43809.1	9	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111825	0.20714	.	.	ENSG00000204848	ENST00000456183	T	0.10382	2.88	1.51	0.531	0.17108	.	0.658221	0.13327	N	0.396225	T	0.20251	0.0487	M	0.64404	1.975	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.07520	-1.0768	9	.	.	.	.	5.633	0.17522	0.0:0.3475:0.6525:0.0	.	1074	Q5RGS2	F75A2_HUMAN	Y	1074	ENSP00000406957:D1074Y	.	D	+	1	0	FAM75A2	39880233	0.007000	0.16637	0.001000	0.08648	0.054000	0.15201	1.018000	0.30002	0.195000	0.20347	0.184000	0.17185	GAC	FAM75A2	-	NULL	ENSG00000204848		0.547	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A2	HGNC	protein_coding	OTTHUMT00000037739.1	13	0.00	0	G	NM_001040065		39890233	39890233	+1	no_errors	ENST00000456183	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.001	T
FANK1	92565	genome.wustl.edu	37	10	127697978	127697978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr10:127697978C>T	ENST00000368693.1	+	11	1113	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Nonsense_Mutation_p.Q331*			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	337						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAAAAAAAGCAGAGGCCAAA	0.418																																						dbGAP											0													73.0	76.0	75.0					10																	127697978		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.1009C>T	10.37:g.127697978C>T	ENSP00000357682:p.Gln337*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.Q337*	ENST00000368693.1	37	c.1009	CCDS31309.1	10	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847160	0.51164	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	.	.	.	4.14	4.14	0.48551	.	0.516934	0.17810	N	0.161240	.	.	.	.	.	.	0.22975	N	0.998484	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7059	7.7009	0.28621	0.0:0.8864:0.0:0.1136	.	.	.	.	X	331;337;274;363	.	ENSP00000357680:Q274X	Q	+	1	0	FANK1	127687968	0.773000	0.28580	0.129000	0.21949	0.066000	0.16364	0.714000	0.25808	2.127000	0.65507	0.563000	0.77884	CAG	FANK1	-	NULL	ENSG00000203780		0.418	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		101	0.00	0	C	NM_145235		127697978	127697978	+1	no_errors	ENST00000368693	ensembl	human	known	69_37n	nonsense	84	20.00	21	SNP	0.014	T
FUT5	2527	genome.wustl.edu	37	19	5866759	5866759	+	Silent	SNP	G	G	A	rs533066806		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:5866759G>A	ENST00000588525.1	-	2	1065	c.978C>T	c.(976-978)caC>caT	p.H326H	FUT5_ENST00000252675.5_Silent_p.H326H	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	326					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGTAGCGGGCGTGGTCCTTGT	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13716	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													15.0	24.0	21.0					19																	5866759		2173	4267	6440	-	-	-	SO:0001819	synonymous_variant	0				CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.978C>T	19.37:g.5866759G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X2	Silent	SNP	pfam_Glyco_trans_10	p.H326	ENST00000588525.1	37	c.978	CCDS12154.1	19																																																																																			FUT5	-	pfam_Glyco_trans_10	ENSG00000130383		0.642	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452213.1	21	0.00	0	G	NM_002034		5866759	5866759	-1	no_errors	ENST00000252675	ensembl	human	known	69_37n	silent	49	32.88	24	SNP	0.000	A
GJA9	81025	genome.wustl.edu	37	1	39341552	39341552	+	Silent	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:39341552G>T	ENST00000360786.3	-	1	471	c.219C>A	c.(217-219)tcC>tcA	p.S73S	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Silent_p.S73S|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.S73S			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	73					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATCTAATGAGGGAGATAGGAA	0.478																																						dbGAP											0													175.0	174.0	175.0					1																	39341552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.219C>A	1.37:g.39341552G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S73	ENST00000360786.3	37	c.219	CCDS432.1	1																																																																																			GJA9	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000131233		0.478	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	54	0.00	0	G	NM_030772		39341552	39341552	-1	no_errors	ENST00000357771	ensembl	human	known	69_37n	silent	72	33.33	36	SNP	1.000	T
GBAP1	2630	genome.wustl.edu	37	1	155187367	155187367	+	RNA	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:155187367C>T	ENST00000486869.1	-	0	291					NR_002188.2				glucosidase, beta, acid pseudogene 1																		AGATGATAGGCGGCGAAATCT	0.522																																						dbGAP											0																																										-	-	-			0			J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155187367C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000486869.1	37	NULL		1																																																																																			GBAP1	-	-	ENSG00000160766		0.522	GBAP1-002	KNOWN	basic	processed_transcript	GBAP1	HGNC	pseudogene	OTTHUMT00000087219.2	16	0.00	0	C	NR_002188.2		155187367	155187367	-1	no_errors	ENST00000486869	ensembl	human	known	69_37n	rna	8	61.90	13	SNP	0.000	T
GPR45	11250	genome.wustl.edu	37	2	105859375	105859375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:105859375C>T	ENST00000258456.1	+	1	1176	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	354						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGAGCGGATCCGAAGGAGAAT	0.567																																						dbGAP											0													75.0	79.0	77.0					2																	105859375		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.1060C>T	2.37:g.105859375C>T	ENSP00000258456:p.Arg354*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NWS4|Q6NXU6	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R354*	ENST00000258456.1	37	c.1060	CCDS2066.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.837655	0.97009	.	.	ENSG00000135973	ENST00000258456	.	.	.	4.84	2.89	0.33648	.	0.242522	0.30492	N	0.009511	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9256	11.0325	0.47781	0.5081:0.4919:0.0:0.0	.	.	.	.	X	354	.	ENSP00000258456:R354X	R	+	1	2	GPR45	105225807	0.819000	0.29175	0.955000	0.39395	0.991000	0.79684	1.809000	0.38922	1.399000	0.46721	0.456000	0.33151	CGA	GPR45	-	NULL	ENSG00000135973		0.567	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	50	0.00	0	C	NM_007227		105859375	105859375	+1	no_errors	ENST00000258456	ensembl	human	known	69_37n	nonsense	17	22.73	5	SNP	0.960	T
GREM2	64388	genome.wustl.edu	37	1	240656385	240656385	+	Missense_Mutation	SNP	C	C	T	rs34188522	byFrequency	TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:240656385C>T	ENST00000318160.4	-	2	657	c.391G>A	c.(391-393)Gtc>Atc	p.V131I		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	131	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		V -> I (in dbSNP:rs34188522).		BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCCACGAGGACGGAGGTGACG	0.622																																						dbGAP											0													61.0	65.0	63.0					1																	240656385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.391G>A	1.37:g.240656385C>T	ENSP00000318650:p.Val131Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UD9	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	p.V131I	ENST00000318160.4	37	c.391	CCDS31070.1	1	.	.	.	.	.	.	.	.	.	.	C	6.144	0.394778	0.11638	.	.	ENSG00000180875	ENST00000318160	T	0.30981	1.51	4.97	3.03	0.35002	DAN (1);Cystine knot, C-terminal (2);	0.202161	0.34484	N	0.003936	T	0.14570	0.0352	N	0.20357	0.565	0.21697	N	0.999581	B	0.15719	0.014	B	0.19946	0.027	T	0.27971	-1.0058	10	0.10902	T	0.67	-3.9358	3.5838	0.07963	0.2094:0.45:0.2574:0.0833	rs34188522	131	Q9H772	GREM2_HUMAN	I	131	ENSP00000318650:V131I	ENSP00000318650:V131I	V	-	1	0	GREM2	238723008	0.954000	0.32549	0.514000	0.27761	0.998000	0.95712	1.879000	0.39618	0.464000	0.27142	0.557000	0.71058	GTC	GREM2	-	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C	ENSG00000180875		0.622	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	HGNC	protein_coding	OTTHUMT00000096286.1	26	0.00	0	C	NM_022469		240656385	240656385	-1	no_errors	ENST00000318160	ensembl	human	known	69_37n	missense	19	48.65	18	SNP	0.227	T
HDAC5	10014	genome.wustl.edu	37	17	42168760	42168760	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:42168760G>A	ENST00000393622.2	-	11	1596	c.1265C>T	c.(1264-1266)tCt>tTt	p.S422F	HDAC5_ENST00000225983.6_Missense_Mutation_p.S423F|HDAC5_ENST00000586802.1_Missense_Mutation_p.S422F|HDAC5_ENST00000336057.5_Missense_Mutation_p.S422F	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	422					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|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 kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GCCAGGAATAGAGGATGTGCT	0.687																																						dbGAP											0													39.0	42.0	41.0					17																	42168760		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.1265C>T	17.37:g.42168760G>A	ENSP00000377244:p.Ser422Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S423F	ENST00000393622.2	37	c.1268	CCDS45696.1	17	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562557	0.45694	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.46063	0.89;0.89;0.88	5.17	5.17	0.71159	.	0.081135	0.50627	D	0.000114	T	0.43322	0.1242	N	0.21373	0.66	0.51767	D	0.99993	D;D;D;D	0.64830	0.994;0.99;0.994;0.99	P;P;P;P	0.57776	0.827;0.675;0.827;0.675	T	0.13495	-1.0507	10	0.09590	T	0.72	-17.5352	17.4507	0.87591	0.0:0.0:1.0:0.0	.	422;422;423;422	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	F	423;422;422	ENSP00000225983:S423F;ENSP00000377244:S422F;ENSP00000337290:S422F	ENSP00000225983:S423F	S	-	2	0	HDAC5	39524286	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.669000	0.74462	2.418000	0.82041	0.555000	0.69702	TCT	HDAC5	-	pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.687	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1	11	0.00	0	G	NM_001015053		42168760	42168760	-1	no_errors	ENST00000225983	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
HOXA4	3201	genome.wustl.edu	37	7	27168854	27168854	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr7:27168854G>A	ENST00000360046.5	-	2	1018	c.953C>T	c.(952-954)tCc>tTc	p.S318F	HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA4_ENST00000428284.2_Missense_Mutation_p.S318F|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	318					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TTATAtggaggagggaacggg	0.567																																						dbGAP											0													84.0	94.0	91.0					7																	27168854		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.953C>T	7.37:g.27168854G>A	ENSP00000353151:p.Ser318Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.S318F	ENST00000360046.5	37	c.953	CCDS5405.1	7	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177167	0.38413	.	.	ENSG00000197576	ENST00000360046;ENST00000428284	D;D	0.87809	-2.3;-2.3	5.15	5.15	0.70609	.	2.934400	0.01887	N	0.038248	D	0.89921	0.6855	M	0.64997	1.995	0.30284	N	0.79108	P	0.52061	0.95	B	0.43082	0.407	T	0.82014	-0.0667	10	0.87932	D	0	.	18.6632	0.91478	0.0:0.0:1.0:0.0	.	318	Q00056	HXA4_HUMAN	F	318	ENSP00000353151:S318F;ENSP00000408845:S318F	ENSP00000353151:S318F	S	-	2	0	HOXA4	27135379	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	3.793000	0.55484	2.579000	0.87056	0.650000	0.86243	TCC	HOXA4	-	NULL	ENSG00000197576		0.567	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	150	0.00	0	G			27168854	27168854	-1	no_errors	ENST00000360046	ensembl	human	known	69_37n	missense	120	43.93	94	SNP	1.000	A
KCNQ1	3784	genome.wustl.edu	37	11	2683237	2683237	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr11:2683237G>A	ENST00000155840.5	+	11	1548	c.1440G>A	c.(1438-1440)atG>atA	p.M480I	KCNQ1_ENST00000335475.5_Missense_Mutation_p.M353I|KCNQ1OT1_ENST00000597346.1_RNA	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	480					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCATTTCATGAGAACCAACA	0.572																																						dbGAP											0													168.0	154.0	158.0					11																	2683237		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1440G>A	11.37:g.2683237G>A	ENSP00000155840:p.Met480Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.M480I	ENST00000155840.5	37	c.1440	CCDS7736.1	11	.	.	.	.	.	.	.	.	.	.	G	8.736	0.917855	0.17982	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.99594	-6.25;-6.25	4.68	3.77	0.43336	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.696238	0.13549	N	0.379636	D	0.96178	0.8754	N	0.03115	-0.41	0.21652	N	0.999607	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.91975	0.5590	10	0.06891	T	0.86	-4.9915	9.1564	0.36996	0.1028:0.0:0.8972:0.0	.	353;353;480	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	I	480;353	ENSP00000155840:M480I;ENSP00000334497:M353I	ENSP00000155840:M480I	M	+	3	0	KCNQ1	2639813	0.860000	0.29831	0.874000	0.34290	0.766000	0.43426	1.204000	0.32296	1.094000	0.41399	-0.258000	0.10820	ATG	KCNQ1	-	pfam_K_chnl_volt-dep_KCNQ_C,prints_K_chnl_volt-dep_KCQN1	ENSG00000053918		0.572	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	33	0.00	0	G	NM_000218		2683237	2683237	+1	no_errors	ENST00000155840	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	0.909	A
KIAA0196	9897	genome.wustl.edu	37	8	126059486	126059486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr8:126059486G>A	ENST00000318410.7	-	20	2816	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.R675*|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	823					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)			CTGCAGAGTCGACCAATAAAC	0.453																																						dbGAP											0													123.0	115.0	118.0					8																	126059486		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.2467C>T	8.37:g.126059486G>A	ENSP00000318016:p.Arg823*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Nonsense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.R823*	ENST00000318410.7	37	c.2467	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.532852	0.97641	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	.	.	.	5.41	3.61	0.41365	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2065	14.7754	0.69729	0.0:0.0:0.7366:0.2634	.	.	.	.	X	823;675	.	ENSP00000318016:R823X	R	-	1	2	KIAA0196	126128668	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.757000	0.74924	0.668000	0.31126	-0.268000	0.10319	CGA	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.453	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	104	0.00	0	G	NM_014846		126059486	126059486	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	nonsense	120	18.24	27	SNP	1.000	A
KIAA0226	9711	genome.wustl.edu	37	3	197402344	197402344	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:197402344C>T	ENST00000296343.5	-	19	2688	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	MIR922_ENST00000401223.1_RNA|KIAA0226_ENST00000273582.5_Missense_Mutation_p.E852K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	897	Cys-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATGTCATCCTCATTCTGACAG	0.547																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													164.0	161.0	162.0					3																	197402344		2031	4201	6232	-	-	-	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.2689G>A	3.37:g.197402344C>T	ENSP00000296343:p.Glu897Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.E897K	ENST00000296343.5	37	c.2689	CCDS43195.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436075	0.83885	.	.	ENSG00000145016	ENST00000273582;ENST00000296343	.	.	.	5.51	5.51	0.81932	.	0.073204	0.64402	D	0.000017	T	0.58032	0.2094	N	0.16656	0.425	0.80722	D	1	B;D	0.67145	0.02;0.996	B;D	0.63192	0.054;0.912	T	0.50575	-0.8812	9	0.08381	T	0.77	.	19.4092	0.94662	0.0:1.0:0.0:0.0	.	852;897	Q92622-2;Q92622	.;RUBIC_HUMAN	K	852;897	.	ENSP00000273582:E852K	E	-	1	0	KIAA0226	198886741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.790000	0.85794	2.591000	0.87537	0.591000	0.81541	GAG	KIAA0226	-	NULL	ENSG00000145016		0.547	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	76	0.00	0	C	XM_032901		197402344	197402344	-1	no_errors	ENST00000296343	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	T
L1TD1	54596	genome.wustl.edu	37	1	62672320	62672320	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:62672320G>T	ENST00000498273.1	+	3	315	c.20G>T	c.(19-21)aGt>aTt	p.S7I		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	7										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gtatctactagtgtacaatca	0.353																																						dbGAP											0													17.0	17.0	17.0					1																	62672320		1753	3247	5000	-	-	-	SO:0001583	missense	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.20G>T	1.37:g.62672320G>T	ENSP00000419901:p.Ser7Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.S7I	ENST00000498273.1	37	c.20	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399153	0.25291	.	.	ENSG00000240563	ENST00000498273	T	0.12569	2.67	2.21	-4.43	0.03568	.	.	.	.	.	T	0.06508	0.0167	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.33189	-0.9878	9	0.49607	T	0.09	.	1.3794	0.02227	0.4767:0.154:0.2141:0.1552	.	7	Q5T7N2	LITD1_HUMAN	I	7	ENSP00000419901:S7I	ENSP00000419901:S7I	S	+	2	0	L1TD1	62444908	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.004000	0.12878	-1.856000	0.01161	0.313000	0.20887	AGT	L1TD1	-	NULL	ENSG00000240563		0.353	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	9	0.00	0	G	NM_019079		62672320	62672320	+1	no_errors	ENST00000498273	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	0.000	T
LANCL2	55915	genome.wustl.edu	37	7	55466215	55466215	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr7:55466215A>G	ENST00000254770.2	+	3	1000	c.422A>G	c.(421-423)aAt>aGt	p.N141S	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	141					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CGGAATCTGAATGGCCGCAGG	0.522																																						dbGAP											0													85.0	82.0	83.0					7																	55466215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.422A>G	7.37:g.55466215A>G	ENSP00000254770:p.Asn141Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.N141S	ENST00000254770.2	37	c.422	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	A	7.766	0.706390	0.15239	.	.	ENSG00000132434	ENST00000254770	T	0.40756	1.02	5.54	1.59	0.23543	Six-hairpin glycosidase-like (1);	0.134215	0.64402	N	0.000004	T	0.19046	0.0457	N	0.10837	0.055	0.32183	N	0.580061	B	0.02656	0.0	B	0.09377	0.004	T	0.27331	-1.0077	10	0.11485	T	0.65	.	8.6695	0.34140	0.6197:0.0:0.3803:0.0	.	141	Q9NS86	LANC2_HUMAN	S	141	ENSP00000254770:N141S	ENSP00000254770:N141S	N	+	2	0	LANCL2	55433709	0.003000	0.15002	0.899000	0.35326	0.805000	0.45488	-0.169000	0.09911	0.077000	0.16863	0.459000	0.35465	AAT	LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like	ENSG00000132434		0.522	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	35	0.00	0	A	NM_018697		55466215	55466215	+1	no_errors	ENST00000254770	ensembl	human	known	69_37n	missense	41	29.31	17	SNP	0.993	G
LCK	3932	genome.wustl.edu	37	1	32742227	32742227	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:32742227G>A	ENST00000336890.5	+	9	942	c.804G>A	c.(802-804)acG>acA	p.T268T	LCK_ENST00000373564.3_Silent_p.T275T|LCK_ENST00000333070.4_Silent_p.T268T	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ACGGGCACACGAAGGTGGCGG	0.642			T	TRB@	T-ALL																																	dbGAP		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													89.0	79.0	82.0					1																	32742227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.804G>A	1.37:g.32742227G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.T268	ENST00000336890.5	37	c.804	CCDS359.1	1																																																																																			LCK	-	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	ENSG00000182866		0.642	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	40	0.00	0	G	NM_005356		32742227	32742227	+1	no_errors	ENST00000333070	ensembl	human	known	69_37n	silent	45	27.42	17	SNP	0.909	A
LRIG1	26018	genome.wustl.edu	37	3	66433747	66433747	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:66433747G>A	ENST00000273261.3	-	15	2674	c.2150C>T	c.(2149-2151)aCg>aTg	p.T717M	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.T694M|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	717	Ig-like C2-type 3.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGGTTCCCCGTGGCTTTGCA	0.607																																						dbGAP											0													91.0	89.0	90.0					3																	66433747		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2150C>T	3.37:g.66433747G>A	ENSP00000273261:p.Thr717Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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.T717M	ENST00000273261.3	37	c.2150	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	5.859	0.342748	0.11069	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.68765	-0.35;-0.35	5.5	4.58	0.56647	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382740	0.29684	N	0.011472	T	0.66973	0.2844	M	0.77406	2.37	0.09310	N	1	P;B;P	0.34662	0.456;0.087;0.462	B;B;B	0.29663	0.064;0.028;0.105	T	0.66991	-0.5783	10	0.62326	D	0.03	.	16.7126	0.85389	0.0:0.2266:0.7734:0.0	.	694;717;717	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	M	717;694;620	ENSP00000273261:T717M;ENSP00000373208:T694M	ENSP00000273261:T717M	T	-	2	0	LRIG1	66516437	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	1.016000	0.29976	2.580000	0.87095	0.655000	0.94253	ACG	LRIG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144749		0.607	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	33	0.00	0	G	NM_015541		66433747	66433747	-1	no_errors	ENST00000273261	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.000	A
MAGEB18	286514	genome.wustl.edu	37	X	26157853	26157853	+	Silent	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:26157853C>T	ENST00000325250.1	+	2	938	c.751C>T	c.(751-753)Cta>Tta	p.L251L		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	251	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TTTGGTGCAGCTAAAGTACCT	0.483																																						dbGAP											0													72.0	63.0	66.0					X																	26157853		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.751C>T	X.37:g.26157853C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L251	ENST00000325250.1	37	c.751	CCDS14216.1	X																																																																																			MAGEB18	-	pfam_MAGE,pfscan_MAGE	ENSG00000176774		0.483	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	73	0.00	0	C	NM_173699		26157853	26157853	+1	no_errors	ENST00000325250	ensembl	human	known	69_37n	silent	102	41.04	71	SNP	0.406	T
MAPK13	5603	genome.wustl.edu	37	6	36106757	36106757	+	Missense_Mutation	SNP	G	G	A	rs3179150	byFrequency	TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr6:36106757G>A	ENST00000211287.4	+	11	1205	c.943G>A	c.(943-945)Gag>Aag	p.E315K	MAPK13_ENST00000373761.6_Missense_Mutation_p.E305K|Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	315					cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCGGGACCCTGAGGAAGAGAC	0.597																																						dbGAP											0													50.0	53.0	52.0					6																	36106757		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.943G>A	6.37:g.36106757G>A	ENSP00000211287:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	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,prints_MAPK_p38,prints_MAPK_JNK	p.E315K	ENST00000211287.4	37	c.943	CCDS4818.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.260671	0.95368	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770	T;T	0.70986	-0.34;-0.53	5.16	5.16	0.70880	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000020	T	0.62600	0.2441	M	0.67569	2.06	0.80722	D	1	B	0.20368	0.044	B	0.19666	0.026	T	0.65261	-0.6211	10	0.66056	D	0.02	-48.6689	18.6305	0.91358	0.0:0.0:1.0:0.0	.	315	O15264	MK13_HUMAN	K	305;315;260	ENSP00000362866:E305K;ENSP00000211287:E315K	ENSP00000211287:E315K	E	+	1	0	MAPK13	36214735	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	6.492000	0.73654	2.387000	0.81309	0.555000	0.69702	GAG	MAPK13	-	superfamily_Kinase-like_dom,prints_MAPK_p38	ENSG00000156711		0.597	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK13	HGNC	protein_coding	OTTHUMT00000040328.1	119	0.00	0	G			36106757	36106757	+1	no_errors	ENST00000211287	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	A
MAPT	4137	genome.wustl.edu	37	17	44073872	44073872	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:44073872G>C	ENST00000571987.1	+	9	1615	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	STH_ENST00000537309.1_5'Flank|MAPT_ENST00000347967.5_Missense_Mutation_p.E128Q|MAPT_ENST00000334239.8_Missense_Mutation_p.E164Q|MAPT_ENST00000576518.1_Missense_Mutation_p.E153Q|MAPT_ENST00000344290.5_Missense_Mutation_p.E557Q|MAPT_ENST00000420682.2_Missense_Mutation_p.E193Q|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Missense_Mutation_p.E193Q|MAPT_ENST00000415613.2_Missense_Mutation_p.E557Q|MAPT_ENST00000574436.1_Missense_Mutation_p.E222Q|MAPT_ENST00000446361.3_Missense_Mutation_p.E164Q|MAPT_ENST00000535772.1_Missense_Mutation_p.E222Q|MAPT_ENST00000262410.5_Missense_Mutation_p.E539Q|MAPT_ENST00000351559.5_Missense_Mutation_p.E222Q|MAPT_ENST00000431008.3_Missense_Mutation_p.E222Q			P10636	TAU_HUMAN	microtubule-associated protein tau	539					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	ACCCACCCGGGAGCCCAAGAA	0.682																																						dbGAP											0													19.0	22.0	21.0					17																	44073872		2203	4299	6502	-	-	-	SO:0001583	missense	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1615G>C	17.37:g.44073872G>C	ENSP00000458742:p.Glu539Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.E557Q	ENST00000571987.1	37	c.1669	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071271	0.55646	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	T;T;T;T;T;T;T;T;T;T	0.17854	2.85;2.83;2.25;2.25;2.53;2.27;2.27;2.54;2.25;2.85	5.62	5.62	0.85841	.	0.000000	0.41396	D	0.000899	T	0.28134	0.0694	N	0.19112	0.55	0.41207	D	0.986418	D;D;D;D;D;D;D	0.71674	0.998;0.998;0.997;0.998;0.997;0.996;0.997	D;D;D;D;D;D;D	0.87578	0.998;0.993;0.991;0.993;0.993;0.991;0.986	T	0.04635	-1.0937	10	0.25751	T	0.34	-25.8369	18.2196	0.89897	0.0:0.0:1.0:0.0	.	557;193;171;164;164;222;539	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	Q	557;539;222;193;222;128;171;164;164;193;557;76	ENSP00000340820:E557Q;ENSP00000262410:E539Q;ENSP00000303214:E222Q;ENSP00000340438:E193Q;ENSP00000443028:E222Q;ENSP00000302706:E128Q;ENSP00000408975:E164Q;ENSP00000334886:E164Q;ENSP00000413056:E193Q;ENSP00000410838:E557Q	ENSP00000262410:E539Q	E	+	1	0	MAPT	41429709	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	4.145000	0.58065	2.651000	0.90000	0.561000	0.74099	GAG	MAPT	-	prints_Tau_protein	ENSG00000186868		0.682	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	9	0.00	0	G	NM_016835		44073872	44073872	+1	no_errors	ENST00000344290	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	1.000	C
MICALCL	84953	genome.wustl.edu	37	11	12371384	12371384	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr11:12371384G>A	ENST00000256186.2	+	7	2020		c.e7-1			NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCTTAAGCAGATTCAGGCAC	0.418																																						dbGAP											0													98.0	92.0	94.0					11																	12371384		1940	4142	6082	-	-	-	SO:0001630	splice_region_variant	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1730-1G>A	11.37:g.12371384G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTP7|Q96JU6	Splice_Site	SNP	-	e6-1	ENST00000256186.2	37	c.1730-1	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853308	0.71719	.	.	ENSG00000133808	ENST00000256186	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3368	0.94322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MICALCL	12327960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.362000	0.66098	2.667000	0.90743	0.563000	0.77884	.	MICALCL	-	-	ENSG00000133808		0.418	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	51	0.00	0	G	NM_032867	Intron	12371384	12371384	+1	no_errors	ENST00000256186	ensembl	human	known	69_37n	splice_site	55	27.63	21	SNP	1.000	A
MUC4	4585	genome.wustl.edu	37	3	195511643	195511643	+	Missense_Mutation	SNP	C	C	T	rs200040077		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:195511643C>T	ENST00000463781.3	-	2	7267	c.6808G>A	c.(6808-6810)Gcc>Acc	p.A2270T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2270T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGAGGTGGCGTGACCTGTG	0.587																																						dbGAP											0													39.0	37.0	38.0					3																	195511643		676	1585	2261	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6808G>A	3.37:g.195511643C>T	ENSP00000417498:p.Ala2270Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A2270T	ENST00000463781.3	37	c.6808	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	T	5.272	0.235599	0.10023	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	.	.	.	.	.	.	.	.	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	B	0.26975	0.165	B	0.14578	0.011	T	0.18745	-1.0327	6	.	.	.	.	.	.	.	.	2270	E7ESK3	.	T	2270	ENSP00000417498:A2270T;ENSP00000420243:A2270T	.	A	-	1	0	MUC4	196996038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.724000	0.00809	-1.707000	0.01402	-2.088000	0.00374	GCC	MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	15	0.00	0	C	NM_018406		195511643	195511643	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	1295	12.45	185	SNP	0.002	T
MYH8	4626	genome.wustl.edu	37	17	10307784	10307784	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:10307784C>T	ENST00000403437.2	-	22	2645	c.2551G>A	c.(2551-2553)Gag>Aag	p.E851K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	851					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTGGCCATCTCTTTCTCGGTC	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													146.0	140.0	142.0					17																	10307784		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2551G>A	17.37:g.10307784C>T	ENSP00000384330:p.Glu851Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E851K	ENST00000403437.2	37	c.2551	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.376194	0.95945	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.84298	-1.83	5.31	5.31	0.75309	.	0.000000	0.41938	U	0.000794	D	0.89385	0.6700	M	0.91038	3.17	0.58432	D	0.999999	B	0.32507	0.373	B	0.33392	0.163	D	0.89856	0.4013	10	0.62326	D	0.03	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	851	P13535	MYH8_HUMAN	K	851	ENSP00000384330:E851K	ENSP00000252173:E851K	E	-	1	0	MYH8	10248509	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.585000	0.82584	2.764000	0.94973	0.655000	0.94253	GAG	MYH8	-	NULL	ENSG00000133020		0.468	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	69	0.00	0	C	NM_002472		10307784	10307784	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	133	33.50	67	SNP	1.000	T
NASP	4678	genome.wustl.edu	37	1	46079800	46079800	+	Silent	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:46079800G>A	ENST00000350030.3	+	8	1626	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	NASP_ENST00000372052.4_Silent_p.G147G|NASP_ENST00000402363.3_Silent_p.G515G|NASP_ENST00000537798.1_Silent_p.G449G|NASP_ENST00000351223.3_Silent_p.G174G|NASP_ENST00000530073.1_3'UTR	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	513	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGATTGGGAACCTAGAGC	0.358																																						dbGAP											0													96.0	104.0	101.0					1																	46079800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1539G>A	1.37:g.46079800G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G38E	ENST00000350030.3	37	c.113	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	0.405	-0.916145	0.02415	.	.	ENSG00000132780	ENST00000531612	T	0.43294	0.95	5.73	2.13	0.27403	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29549	-1.0008	7	0.49607	T	0.09	-14.2562	1.4784	0.02431	0.2914:0.1468:0.4125:0.1493	.	.	.	.	E	38	ENSP00000437116:G38E	ENSP00000437116:G38E	G	+	2	0	NASP	45852387	0.970000	0.33590	1.000000	0.80357	0.078000	0.17371	0.132000	0.15891	0.776000	0.33473	-0.345000	0.07892	GGA	NASP	-	NULL	ENSG00000132780		0.358	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	118	0.00	0	G	NM_002482		46079800	46079800	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531612	ensembl	human	putative	69_37n	missense	148	12.35	21	SNP	0.995	A
NDUFB5	4711	genome.wustl.edu	37	3	179322679	179322679	+	Missense_Mutation	SNP	C	C	T	rs373322203		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:179322679C>T	ENST00000259037.3	+	1	190	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	NDUFB5_ENST00000493866.1_Missense_Mutation_p.R26C|NDUFB5_ENST00000472629.1_Missense_Mutation_p.R26C|MRPL47_ENST00000392659.2_5'Flank|MRPL47_ENST00000476781.1_5'Flank|MRPL47_ENST00000259038.2_5'Flank	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	26					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CCTTGGCACTCGCCTCGGATT	0.642																																						dbGAP											0													27.0	28.0	28.0					3																	179322679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.76C>T	3.37:g.179322679C>T	ENSP00000259037:p.Arg26Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561V6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B5_su	p.R26C	ENST00000259037.3	37	c.76	CCDS3234.1	3	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082855	0.36758	.	.	ENSG00000136521	ENST00000259037;ENST00000493866;ENST00000472629	T;T;T	0.55588	0.9;0.51;0.9	5.75	1.83	0.25207	.	0.357125	0.27604	N	0.018621	T	0.57975	0.2090	M	0.73598	2.24	0.18873	N	0.999989	D;D	0.67145	0.996;0.992	P;P	0.51229	0.549;0.663	T	0.53464	-0.8435	10	0.56958	D	0.05	-2.2883	9.071	0.36493	0.4365:0.4303:0.1332:0.0	.	26;26	Q561V6;O43674	.;NDUB5_HUMAN	C	26	ENSP00000259037:R26C;ENSP00000419656:R26C;ENSP00000419248:R26C	ENSP00000259037:R26C	R	+	1	0	NDUFB5	180805373	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.393000	0.20817	0.113000	0.18004	-0.175000	0.13238	CGC	NDUFB5	-	pfam_NADH_UbQ_OxRdtase_B5_su	ENSG00000136521		0.642	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB5	HGNC	protein_coding	OTTHUMT00000348937.2	43	0.00	0	C	NM_002492		179322679	179322679	+1	no_errors	ENST00000259037	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	0.000	T
NDUFS8	4728	genome.wustl.edu	37	11	67803732	67803732	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr11:67803732G>A	ENST00000313468.5	+	6	492	c.385G>A	c.(385-387)Gag>Aag	p.E129K	NDUFS8_ENST00000526542.1_3'UTR|MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_5'UTR|TCIRG1_ENST00000265686.3_5'Flank	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	129	4Fe-4S ferredoxin-type 1.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						CATCACCATCGAGGCTGAGCC	0.662																																					Colon(116;1205 2770 20054)	dbGAP											0													30.0	27.0	28.0					11																	67803732		2200	4291	6491	-	-	-	SO:0001583	missense	0			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.385G>A	11.37:g.67803732G>A	ENSP00000315774:p.Glu129Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB86|Q0VDA8	Missense_Mutation	SNP	pfam_4Fe4S-bd_dom,tigrfam_NADH_quinone_OxRdtase_chainI	p.E129K	ENST00000313468.5	37	c.385	CCDS8176.1	11	.	.	.	.	.	.	.	.	.	.	g	27.5	4.840609	0.91197	.	.	ENSG00000110717	ENST00000313468;ENST00000526339;ENST00000525419	D;D;D	0.85556	-2.0;-2.0;-2.0	4.53	4.53	0.55603	Fumarate reductase, C-terminal (1);4Fe-4S binding domain (1);4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.107611	0.64402	D	0.000006	D	0.85173	0.5636	L	0.27944	0.81	0.80722	D	1	P;D	0.56035	0.924;0.974	P;P	0.56563	0.641;0.801	D	0.87633	0.2517	10	0.87932	D	0	.	16.0336	0.80603	0.0:0.0:1.0:0.0	.	129;129	E9PPW7;O00217	.;NDUS8_HUMAN	K	129;129;111	ENSP00000315774:E129K;ENSP00000436287:E129K;ENSP00000433521:E111K	ENSP00000315774:E129K	E	+	1	0	NDUFS8	67560308	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.427000	0.97472	2.350000	0.79820	0.651000	0.88453	GAG	NDUFS8	-	tigrfam_NADH_quinone_OxRdtase_chainI	ENSG00000110717		0.662	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS8	HGNC	protein_coding	OTTHUMT00000394193.1	12	0.00	0	G	NM_002496		67803732	67803732	+1	no_errors	ENST00000313468	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
NEDD4L	23327	genome.wustl.edu	37	18	56054707	56054707	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr18:56054707A>C	ENST00000400345.3	+	27	2807	c.2524A>C	c.(2524-2526)Att>Ctt	p.I842L	NEDD4L_ENST00000435432.2_Missense_Mutation_p.I701L|NEDD4L_ENST00000357895.5_Missense_Mutation_p.I834L|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.I814L|NEDD4L_ENST00000456173.2_Missense_Mutation_p.I701L|NEDD4L_ENST00000356462.6_Missense_Mutation_p.I778L|NEDD4L_ENST00000431212.2_Missense_Mutation_p.I721L|NEDD4L_ENST00000256832.7_Missense_Mutation_p.I702L|NEDD4L_ENST00000256830.9_Missense_Mutation_p.I738L|NEDD4L_ENST00000456986.1_Missense_Mutation_p.I721L|NEDD4L_ENST00000382850.4_Missense_Mutation_p.I822L	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	842	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TTTGATTAAAATTTTTGATGA	0.244																																						dbGAP											0													33.0	33.0	33.0					18																	56054707		1772	4028	5800	-	-	-	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2524A>C	18.37:g.56054707A>C	ENSP00000383199:p.Ile842Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.I842L	ENST00000400345.3	37	c.2524	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738080	0.69304	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	N	0.25426	0.745	0.80722	D	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.15484	0.007;0.005;0.008;0.002;0.013;0.005	T	0.26710	-1.0095	10	0.49607	T	0.09	.	15.0081	0.71527	1.0:0.0:0.0:0.0	.	814;834;701;778;842;822	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	L	842;822;778;738;702;721;834;701;701;721	ENSP00000383199:I842L;ENSP00000372301:I822L;ENSP00000348847:I778L;ENSP00000256830:I738L;ENSP00000256832:I702L;ENSP00000411947:I721L;ENSP00000350569:I834L;ENSP00000393395:I701L;ENSP00000405440:I701L;ENSP00000389406:I721L	ENSP00000256830:I738L	I	+	1	0	NEDD4L	54205687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.058000	0.93896	2.129000	0.65627	0.533000	0.62120	ATT	NEDD4L	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000049759		0.244	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	73	0.00	0	A			56054707	56054707	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	1.000	C
NLRX1	79671	genome.wustl.edu	37	11	119043070	119043070	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr11:119043070C>T	ENST00000409109.1	+	3	663	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C	NLRX1_ENST00000409991.1_Missense_Mutation_p.R26C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R26C|NLRX1_ENST00000525863.1_Missense_Mutation_p.R26C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R26C|NLRX1_ENST00000474751.2_Intron	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	26					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTAGATGATCGTATCCCCTT	0.522																																						dbGAP											0													183.0	154.0	164.0					11																	119043070		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.76C>T	11.37:g.119043070C>T	ENSP00000387334:p.Arg26Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R26C	ENST00000409109.1	37	c.76	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726359	0.48833	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.72394	1.38;1.37;1.38;-0.53;-0.53;-0.65;-0.53;-0.65	4.81	-1.33	0.09172	.	2.079570	0.02101	N	0.053952	T	0.54046	0.1834	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.43212	-0.9405	10	0.87932	D	0	.	3.1727	0.06558	0.3714:0.3324:0.0:0.2962	.	26;26	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	C	26	ENSP00000400268:R26C;ENSP00000402801:R26C;ENSP00000402381:R26C;ENSP00000386851:R26C;ENSP00000292199:R26C;ENSP00000386858:R26C;ENSP00000387334:R26C;ENSP00000433442:R26C	ENSP00000292199:R26C	R	+	1	0	NLRX1	118548280	0.000000	0.05858	0.003000	0.11579	0.826000	0.46750	-0.483000	0.06536	-0.335000	0.08451	0.591000	0.81541	CGT	NLRX1	-	NULL	ENSG00000160703		0.522	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	128	0.00	0	C	NM_170722		119043070	119043070	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	missense	124	16.22	24	SNP	0.001	T
OR1I1	126370	genome.wustl.edu	37	19	15198028	15198028	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:15198028C>T	ENST00000209540.2	+	1	238	c.152C>T	c.(151-153)aCg>aTg	p.T51M		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						GCCATCATCACGGACTCTCAC	0.502																																						dbGAP											0													323.0	240.0	268.0					19																	15198028		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.152C>T	19.37:g.15198028C>T	ENSP00000209540:p.Thr51Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96R92	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T51M	ENST00000209540.2	37	c.152	CCDS32937.1	19	.	.	.	.	.	.	.	.	.	.	c	9.317	1.057161	0.19907	.	.	ENSG00000094661	ENST00000209540	T	0.09445	2.98	4.84	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.670270	0.11442	U	0.563706	T	0.11367	0.0277	N	0.25060	0.705	0.09310	N	1	D	0.54207	0.965	P	0.50352	0.638	T	0.19353	-1.0308	10	0.59425	D	0.04	.	7.7544	0.28915	0.1606:0.7502:0.0:0.0891	.	51	O60431	OR1I1_HUMAN	M	51	ENSP00000209540:T51M	ENSP00000209540:T51M	T	+	2	0	OR1I1	15059028	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.005000	0.12855	1.263000	0.44181	0.561000	0.74099	ACG	OR1I1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000094661		0.502	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	HGNC	protein_coding	OTTHUMT00000465665.1	341	0.00	0	C			15198028	15198028	+1	no_errors	ENST00000209540	ensembl	human	known	69_37n	missense	285	18.75	66	SNP	0.001	T
OR6C74	254783	genome.wustl.edu	37	12	55641891	55641891	+	Silent	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr12:55641891C>T	ENST00000343870.4	+	1	910	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	274						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)|large_intestine(3)|lung(7)|prostate(1)	12						AGGGATAGCTCTGCTCAGCAC	0.393																																						dbGAP											0													63.0	67.0	66.0					12																	55641891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.820C>T	12.37:g.55641891C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L274	ENST00000343870.4	37	c.820	CCDS31816.1	12																																																																																			OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197706		0.393	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	25	0.00	0	C			55641891	55641891	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	silent	28	28.21	11	SNP	0.001	T
OTOP2	92736	genome.wustl.edu	37	17	72926997	72926997	+	Missense_Mutation	SNP	G	G	A	rs547987971		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:72926997G>A	ENST00000580223.1	+	5	1297	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	OTOP2_ENST00000331427.4_Missense_Mutation_p.E423K			Q7RTS6	OTOP2_HUMAN	otopetrin 2	423						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GTTTATCATCGAGAGCCTTCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17668	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													113.0	92.0	99.0					17																	72926997		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1267G>A	17.37:g.72926997G>A	ENSP00000463837:p.Glu423Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Otopetrin	p.E423K	ENST00000580223.1	37	c.1267	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097042	0.76870	.	.	ENSG00000183034	ENST00000331427	T	0.21543	2.0	5.47	5.47	0.80525	.	0.054525	0.64402	D	0.000001	T	0.41328	0.1154	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	P	0.56042	0.79	T	0.09574	-1.0668	10	0.32370	T	0.25	-9.2573	19.3792	0.94525	0.0:0.0:1.0:0.0	.	423	Q7RTS6	OTOP2_HUMAN	K	423	ENSP00000332528:E423K	ENSP00000332528:E423K	E	+	1	0	OTOP2	70438592	1.000000	0.71417	0.978000	0.43139	0.380000	0.30137	7.629000	0.83207	2.581000	0.87130	0.456000	0.33151	GAG	OTOP2	-	pfam_Otopetrin	ENSG00000183034		0.622	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1	69	0.00	0	G	NM_178160		72926997	72926997	+1	no_errors	ENST00000331427	ensembl	human	known	69_37n	missense	29	38.30	18	SNP	1.000	A
PARD3	56288	genome.wustl.edu	37	10	34649154	34649154	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr10:34649154C>T	ENST00000374789.3	-	13	2066	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	PARD3_ENST00000545260.1_Missense_Mutation_p.D524N|PARD3_ENST00000374768.1_Missense_Mutation_p.D19N|PARD3_ENST00000350537.4_Missense_Mutation_p.D568N|PARD3_ENST00000346874.4_Missense_Mutation_p.D581N|PARD3_ENST00000340077.5_Missense_Mutation_p.D581N|PARD3_ENST00000374794.3_Missense_Mutation_p.D524N|PARD3_ENST00000374790.3_Missense_Mutation_p.D524N|PARD3_ENST00000374776.1_Missense_Mutation_p.D568N|PARD3_ENST00000544292.1_Missense_Mutation_p.D298N|PARD3_ENST00000374773.1_Missense_Mutation_p.D581N|PARD3_ENST00000545693.1_Missense_Mutation_p.D568N|PARD3_ENST00000374788.3_Missense_Mutation_p.D581N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	581					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)				CTGGTGCCATCAGGTGTAAGA	0.393																																						dbGAP											0													117.0	104.0	109.0					10																	34649154		2203	4300	6503	-	-	-	SO:0001583	missense	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.1741G>A	10.37:g.34649154C>T	ENSP00000363921:p.Asp581Asn	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	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D581N	ENST00000374789.3	37	c.1741	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937474	0.73557	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.95	5.05	0.67936	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;B;P;D;D;D;P;D;P	0.76494	0.999;0.992;0.989;0.999;0.989;0.999;0.999;0.25;0.781;0.998;0.998;0.99;0.695;0.98;0.86	D;D;D;D;D;D;D;B;P;D;D;D;B;D;P	0.83275	0.995;0.976;0.994;0.995;0.994;0.996;0.995;0.077;0.641;0.988;0.981;0.953;0.344;0.911;0.734	T	0.04103	-1.0977	10	0.30078	T	0.28	.	15.1414	0.72612	0.0:0.9325:0.0:0.0675	.	524;524;568;568;568;581;581;581;524;568;581;581;568;581;298	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	N	568;524;581;581;581;524;568;524;568;581;581;298;19	ENSP00000443147:D568N;ENSP00000440857:D524N;ENSP00000363921:D581N;ENSP00000363920:D581N;ENSP00000340591:D581N;ENSP00000363926:D524N;ENSP00000311986:D568N;ENSP00000363922:D524N;ENSP00000363908:D568N;ENSP00000341844:D581N;ENSP00000363905:D581N;ENSP00000444429:D298N;ENSP00000363900:D19N	ENSP00000341844:D581N	D	-	1	0	PARD3	34689160	1.000000	0.71417	0.906000	0.35671	0.265000	0.26407	7.818000	0.86416	1.529000	0.49120	-0.253000	0.11424	GAT	PARD3	-	superfamily_PDZ	ENSG00000148498		0.393	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	50	0.00	0	C	NM_019619		34649154	34649154	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	55	32.10	26	SNP	1.000	T
PNN	5411	genome.wustl.edu	37	14	39648302	39648302	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr14:39648302G>A	ENST00000216832.4	+	7	573	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	169	Necessary for interaction with RNPS1.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAGCAAAAGCGGCGCCAGGAA	0.348																																						dbGAP											0													61.0	67.0	65.0					14																	39648302		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.506G>A	14.37:g.39648302G>A	ENSP00000216832:p.Arg169Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.R169Q	ENST00000216832.4	37	c.506	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.466172	0.96257	.	.	ENSG00000100941	ENST00000216832	T	0.44482	0.92	5.97	5.97	0.96955	Pinin/SDK/MemA protein (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.72576	2.205	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.63528	-0.6617	10	0.54805	T	0.06	-12.8711	20.4238	0.99064	0.0:0.0:1.0:0.0	.	169	Q9H307	PININ_HUMAN	Q	169	ENSP00000216832:R169Q	ENSP00000216832:R169Q	R	+	2	0	PNN	38718053	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	9.845000	0.99498	2.834000	0.97654	0.650000	0.86243	CGG	PNN	-	pfam_Pinin_SDK_MemA	ENSG00000100941		0.348	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	45	0.00	0	G	NM_002687		39648302	39648302	+1	no_errors	ENST00000216832	ensembl	human	known	69_37n	missense	45	29.23	19	SNP	1.000	A
PPA2	27068	genome.wustl.edu	37	4	106395125	106395125	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr4:106395125G>A	ENST00000341695.5	-	1	113	c.83C>T	c.(82-84)tCg>tTg	p.S28L	PPA2_ENST00000354147.3_Missense_Mutation_p.S28L|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_5'UTR|PPA2_ENST00000348706.5_Missense_Mutation_p.S28L|PPA2_ENST00000357415.4_Missense_Mutation_p.S28L|PPA2_ENST00000380004.2_Missense_Mutation_p.S28L|PPA2_ENST00000432483.2_Missense_Mutation_p.S28L	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	28					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		AGCACGGCGCGACCCGGTCCC	0.672											OREG0016281	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													17.0	20.0	19.0					4																	106395125		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.83C>T	4.37:g.106395125G>A	ENSP00000343885:p.Ser28Leu	Somatic	1396	WXS	Illumina GAIIx	Phase_IV	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	p.S28L	ENST00000341695.5	37	c.83	CCDS3667.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.850062|1.850062	0.32699|0.32699	.|.	.|.	ENSG00000138777|ENSG00000138777	ENST00000508518|ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004;ENST00000510015;ENST00000504028	.|T;T;T;T;T;T	.|0.45276	.|0.95;0.94;0.92;0.9;0.9;0.92	2.78|2.78	2.78|2.78	0.32641|0.32641	.|.	.|0.461204	.|0.21437	.|N	.|0.074546	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.19112|0.19112	0.55|0.55	0.36597|0.36597	D|D	0.874423|0.874423	.|B;B;B;B;B	.|0.22003	.|0.001;0.001;0.005;0.063;0.004	.|B;B;B;B;B	.|0.14578	.|0.0;0.0;0.004;0.011;0.001	T|T	0.14282|0.14282	-1.0478|-1.0478	5|10	.|0.16420	.|T	.|0.52	-0.5655|-0.5655	9.1497|9.1497	0.36955|0.36955	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|28;28;28;28;28	.|Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.|.;.;.;.;IPYR2_HUMAN	C|L	25|28	.|ENSP00000343885:S28L;ENSP00000313061:S28L;ENSP00000340352:S28L;ENSP00000389957:S28L;ENSP00000349996:S28L;ENSP00000369340:S28L	.|ENSP00000343885:S28L	R|S	-|-	1|2	0|0	PPA2|PPA2	106614574|106614574	0.407000|0.407000	0.25352|0.25352	0.004000|0.004000	0.12327|0.12327	0.042000|0.042000	0.13812|0.13812	0.772000|0.772000	0.26647|0.26647	1.561000|1.561000	0.49584|0.49584	0.455000|0.455000	0.32223|0.32223	CGC|TCG	PPA2	-	NULL	ENSG00000138777		0.672	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPA2	HGNC	protein_coding	OTTHUMT00000250704.4	8	0.00	0	G	NM_176869		106395125	106395125	-1	no_errors	ENST00000357415	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.012	A
PPHLN1	51535	genome.wustl.edu	37	12	42778795	42778796	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr12:42778795_42778796delAG	ENST00000395568.2	+	6	649_650	c.565_566delAG	c.(565-567)agafs	p.R189fs	PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Frame_Shift_Del_p.R196fs|PPHLN1_ENST00000549190.1_Frame_Shift_Del_p.R207fs|PPHLN1_ENST00000337898.6_Frame_Shift_Del_p.R134fs|PPHLN1_ENST00000552761.1_Frame_Shift_Del_p.R141fs|PPHLN1_ENST00000432191.2_Frame_Shift_Del_p.R134fs|PPHLN1_ENST00000358314.7_Frame_Shift_Del_p.R189fs|PPHLN1_ENST00000317560.9_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	189	Ser-rich.				keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AAATCCTGAAAGAGGTGAGTTT	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.565_566delAG	12.37:g.42778797_42778798delAG	ENSP00000378935:p.Arg189fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Frame_Shift_Del	DEL	NULL	p.D190fs	ENST00000395568.2	37	c.565_566	CCDS31777.1	12																																																																																			PPHLN1	-	NULL	ENSG00000134283		0.495	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1	76	0.00	0	AG	NM_201515		42778795	42778796	+1	no_errors	ENST00000395568	ensembl	human	known	69_37n	frame_shift_del	133	10.14	15	DEL	1.000:1.000	-
PRR23B	389151	genome.wustl.edu	37	3	138739098	138739098	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr3:138739098C>T	ENST00000329447.5	-	1	670	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTCGACGACGACGTCCTCC	0.657																																						dbGAP											0													56.0	60.0	58.0					3																	138739098		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.406G>A	3.37:g.138739098C>T	ENSP00000328768:p.Val136Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV9	Missense_Mutation	SNP	pfam_UPF0572	p.V136I	ENST00000329447.5	37	c.406	CCDS33868.1	3	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338858	0.41398	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.95	1.06	0.20224	.	0.261619	0.20067	N	0.099951	T	0.48314	0.1493	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	P	0.61940	0.896	T	0.29458	-1.0011	9	0.33141	T	0.24	.	3.3514	0.07154	0.2554:0.6018:0.0:0.1428	.	136	Q6ZRT6	PR23B_HUMAN	I	136	.	ENSP00000328768:V136I	V	-	1	0	PRR23B	140221788	0.000000	0.05858	0.000000	0.03702	0.628000	0.37860	0.408000	0.21065	0.279000	0.22186	0.456000	0.33151	GTC	PRR23B	-	pfam_UPF0572	ENSG00000184814		0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	51	0.00	0	C	NM_001013650		138739098	138739098	-1	no_errors	ENST00000329447	ensembl	human	known	69_37n	missense	41	39.71	27	SNP	0.000	T
RAB10	10890	genome.wustl.edu	37	2	26350787	26350787	+	Silent	SNP	G	G	A	rs61754189	byFrequency	TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:26350787G>A	ENST00000264710.4	+	5	985	c.486G>A	c.(484-486)gcG>gcA	p.A162A	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	162					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAAAAGGCGTTCCTCACGT	0.348																																						dbGAP											0													182.0	176.0	178.0					2																	26350787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.486G>A	2.37:g.26350787G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,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.A162	ENST00000264710.4	37	c.486	CCDS1720.1	2																																																																																			RAB10	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000084733		0.348	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	89	0.00	0	G	NM_016131		26350787	26350787	+1	no_errors	ENST00000264710	ensembl	human	known	69_37n	silent	129	19.38	31	SNP	0.947	A
PTPN18	26469	genome.wustl.edu	37	2	131127382	131127382	+	Silent	SNP	C	C	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:131127382C>A	ENST00000175756.5	+	7	629	c.528C>A	c.(526-528)ctC>ctA	p.L176L	PTPN18_ENST00000347849.3_Silent_p.L69L	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	176	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCAGGACCCTCAAGGTCACAT	0.498																																						dbGAP											0													56.0	57.0	57.0					2																	131127382		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.528C>A	2.37:g.131127382C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1E6|Q53P42	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L176	ENST00000175756.5	37	c.528	CCDS2161.1	2																																																																																			PTPN18	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000072135		0.498	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	HGNC	protein_coding	OTTHUMT00000254523.2	107	0.00	0	C			131127382	131127382	+1	no_errors	ENST00000175756	ensembl	human	known	69_37n	silent	65	26.97	24	SNP	0.085	A
RPS6KA3	6197	genome.wustl.edu	37	X	20212321	20212321	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chrX:20212321G>A	ENST00000379565.3	-	6	679	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R129C|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R130C|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R130C	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	158	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)	TTGGATAAGCGTGTAAACAAA	0.313																																						dbGAP											0													49.0	46.0	47.0					X																	20212321		2201	4295	6496	-	-	-	SO:0001583	missense	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.472C>T	X.37:g.20212321G>A	ENSP00000368884:p.Arg158Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	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.R158C	ENST00000379565.3	37	c.472	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354136	0.82243	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.39	5.39	0.77823	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	0.76730	0.4028	L	0.56124	1.755	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;0.997;1.0;0.999	T	0.78884	-0.2028	10	0.87932	D	0	.	18.3819	0.90453	0.0:0.0:1.0:0.0	.	130;129;130;158	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	C	158;130;129;130;129;130	ENSP00000368884:R158C;ENSP00000440220:R130C;ENSP00000368865:R129C;ENSP00000444837:R130C;ENSP00000407655:R129C;ENSP00000388512:R130C	ENSP00000368865:R129C	R	-	1	0	RPS6KA3	20122242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.592000	0.74095	2.367000	0.80283	0.600000	0.82982	CGC	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		0.313	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	31	0.00	0	G	NM_004586		20212321	20212321	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	missense	160	17.53	34	SNP	1.000	A
RRBP1	6238	genome.wustl.edu	37	20	17639816	17639816	+	Missense_Mutation	SNP	T	T	G	rs62207198		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr20:17639816T>G	ENST00000377813.1	-	3	1640	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q446P|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	446	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCCTGGTTCTGGGCCCCCTC	0.662																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1337A>C	20.37:g.17639816T>G	ENSP00000367044:p.Gln446Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.Q446P	ENST00000377813.1	37	c.1337		20	.	.	.	.	.	.	.	.	.	.	T	4.183	0.032537	0.08101	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.41758	0.99;0.99	4.75	-2.59	0.06209	.	1.267080	0.06308	N	0.702091	T	0.26557	0.0649	.	.	.	0.20196	N	0.99993	.	.	.	.	.	.	T	0.28170	-1.0052	7	0.17369	T	0.5	0.1042	9.4896	0.38951	0.1175:0.0:0.4867:0.3958	rs62207198	.	.	.	P	446	ENSP00000367044:Q446P;ENSP00000246043:Q446P	ENSP00000246043:Q446P	Q	-	2	0	RRBP1	17587816	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.226000	0.00139	-0.587000	0.05890	-0.488000	0.04728	CAG	RRBP1	-	NULL	ENSG00000125844		0.662	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	10	0.00	0	T	NM_001042576		17639816	17639816	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.000	G
RYR2	6262	genome.wustl.edu	37	1	237675055	237675055	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:237675055G>A	ENST00000366574.2	+	24	3103	c.2786G>A	c.(2785-2787)cGc>cAc	p.R929H	RYR2_ENST00000542537.1_Missense_Mutation_p.R913H|RYR2_ENST00000360064.6_Missense_Mutation_p.R927H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	929	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACAGGAGCGCAATTACAAC	0.388																																						dbGAP											0													58.0	55.0	56.0					1																	237675055		1881	4116	5997	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2786G>A	1.37:g.237675055G>A	ENSP00000355533:p.Arg929His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R927H	ENST00000366574.2	37	c.2780	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793062	0.90453	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92545	-3.06;-3.06;-3.06	5.54	5.54	0.83059	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000011	D	0.87966	0.6311	L	0.36672	1.1	0.80722	D	1	P	0.35401	0.499	B	0.24848	0.056	D	0.88165	0.2860	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	929	Q92736	RYR2_HUMAN	H	929;927;913	ENSP00000355533:R929H;ENSP00000353174:R927H;ENSP00000443798:R913H	ENSP00000353174:R927H	R	+	2	0	RYR2	235741678	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.014000	0.57145	2.602000	0.87976	0.655000	0.94253	CGC	RYR2	-	pfam_Ryanodine_rcpt	ENSG00000198626		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	68	0.00	0	G	NM_001035		237675055	237675055	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	A
SCAMP1	9522	genome.wustl.edu	37	5	77717661	77717661	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr5:77717661G>A	ENST00000538629.1	+	6	666	c.509G>A	c.(508-510)tGc>tAc	p.C170Y	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	170					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		ATCTTCGGATGCTTGGCTTGG	0.358																																						dbGAP											0													306.0	276.0	285.0					5																	77717661		1848	4086	5934	-	-	-	SO:0001583	missense	0			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.509G>A	5.37:g.77717661G>A	ENSP00000475496:p.Cys170Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43587|Q6FG23|Q96BX1|Q96QK5	RNA	SNP	-	NULL	ENST00000538629.1	37	NULL		5																																																																																			SCAMP1	-	-	ENSG00000085365		0.358	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	SCAMP1	HGNC	protein_coding		330	0.00	0	G	NM_004866		77717661	77717661	+1	no_errors	ENST00000320280	ensembl	human	known	69_37n	rna	213	18.39	48	SNP	1.000	A
SDE2	163859	genome.wustl.edu	37	1	226180127	226180127	+	Silent	SNP	A	A	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:226180127A>G	ENST00000272091.7	-	4	510	c.492T>C	c.(490-492)gcT>gcC	p.A164A		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	164																	CCAGACGCTCAGCCATCTCAT	0.557																																						dbGAP											0													87.0	87.0	87.0					1																	226180127		1968	4173	6141	-	-	-	SO:0001819	synonymous_variant	0			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.492T>C	1.37:g.226180127A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Silent	SNP	superfamily_Mopterin_synth/thiamin_S_b	p.A164	ENST00000272091.7	37	c.492	CCDS41473.1	1																																																																																			SDE2	-	NULL	ENSG00000143751		0.557	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDE2	HGNC	protein_coding	OTTHUMT00000091310.1	73	0.00	0	A	NM_152608		226180127	226180127	-1	no_errors	ENST00000272091	ensembl	human	known	69_37n	silent	46	31.34	21	SNP	0.003	G
SLC4A5	57835	genome.wustl.edu	37	2	74474339	74474339	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr2:74474339A>G	ENST00000377634.4	-	19	2282	c.1883T>C	c.(1882-1884)aTc>aCc	p.I628T	SLC4A5_ENST00000358683.4_Missense_Mutation_p.I564T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.I628T|SLC4A5_ENST00000377632.1_Missense_Mutation_p.I628T|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.I628T|SLC4A5_ENST00000346834.4_Missense_Mutation_p.I628T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.I628T|SLC4A5_ENST00000359484.4_Missense_Mutation_p.I564T					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATATTTGATGATAAAGCTGGC	0.512																																						dbGAP											0													153.0	153.0	153.0					2																	74474339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1883T>C	2.37:g.74474339A>G	ENSP00000366861:p.Ile628Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.I628T	ENST00000377634.4	37	c.1883	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171263	0.78452	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.17	5.17	0.71159	Bicarbonate transporter, C-terminal (1);	0.047110	0.85682	D	0.000000	D	0.87775	0.6262	M	0.75777	2.31	0.54753	D	0.99998	P;D;P;P;P	0.63046	0.547;0.992;0.935;0.938;0.455	B;D;P;P;B	0.63957	0.211;0.92;0.811;0.861;0.328	D	0.89174	0.3539	10	0.87932	D	0	.	13.0178	0.58768	1.0:0.0:0.0:0.0	.	628;628;564;628;628	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	T	628;628;628;564;628;564;628;628;628;628	ENSP00000377587:I628T;ENSP00000251768:I628T;ENSP00000352461:I564T;ENSP00000395804:I628T;ENSP00000351513:I564T;ENSP00000350475:I628T;ENSP00000366859:I628T;ENSP00000366861:I628T;ENSP00000405678:I628T	ENSP00000251768:I628T	I	-	2	0	SLC4A5	74327847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.170000	0.68504	0.533000	0.62120	ATC	SLC4A5	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000188687		0.512	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	73	0.00	0	A			74474339	74474339	-1	no_errors	ENST00000357822	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	1.000	G
SPATS1	221409	genome.wustl.edu	37	6	44337846	44337846	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr6:44337846C>T	ENST00000288390.2	+	6	1101	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.P252S			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	252										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCACAAATTCCCAAGTGAGT	0.348																																						dbGAP											0													174.0	168.0	170.0					6																	44337846		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.754C>T	6.37:g.44337846C>T	ENSP00000424400:p.Pro252Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	NULL	p.P252S	ENST00000288390.2	37	c.754	CCDS4911.1	6	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422408	0.62622	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.52526	0.66;0.66	5.62	3.84	0.44239	.	0.111299	0.40385	N	0.001117	T	0.49304	0.1549	M	0.61703	1.905	0.30888	N	0.730699	D	0.76494	0.999	D	0.74023	0.982	T	0.48317	-0.9046	10	0.51188	T	0.08	.	9.3125	0.37915	0.0:0.8293:0.0:0.1707	.	252	Q496A3	SPAS1_HUMAN	S	252	ENSP00000437552:P252S;ENSP00000424400:P252S	ENSP00000424400:P252S	P	+	1	0	SPATS1	44445824	0.236000	0.23804	1.000000	0.80357	0.988000	0.76386	0.999000	0.29757	1.394000	0.46624	-0.126000	0.14955	CCC	SPATS1	-	NULL	ENSG00000249481		0.348	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATS1	HGNC	protein_coding	OTTHUMT00000040738.2	98	0.00	0	C	NM_145026		44337846	44337846	+1	no_errors	ENST00000288390	ensembl	human	known	69_37n	missense	222	17.78	48	SNP	0.847	T
SPRY1	10252	genome.wustl.edu	37	4	124323620	124323620	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr4:124323620C>T	ENST00000394339.2	+	2	1214	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	SPRY1_ENST00000339241.1_Missense_Mutation_p.R292C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	292	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						CTGGATCCATCGCCCAGGGTG	0.498																																						dbGAP											0													137.0	126.0	130.0					4																	124323620		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.874C>T	4.37:g.124323620C>T	ENSP00000377871:p.Arg292Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.R292C	ENST00000394339.2	37	c.874	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158418	0.57368	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.61510	0.1;0.1	5.06	4.21	0.49690	.	0.067420	0.56097	D	0.000021	T	0.75620	0.3874	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78021	-0.2367	9	.	.	.	-20.5333	15.2365	0.73436	0.0:0.8587:0.1413:0.0	.	292	O43609	SPY1_HUMAN	C	292	ENSP00000343785:R292C;ENSP00000377871:R292C	.	R	+	1	0	SPRY1	124543070	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	3.251000	0.51453	1.332000	0.45431	0.561000	0.74099	CGC	SPRY1	-	pfam_Sprouty	ENSG00000164056		0.498	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	71	0.00	0	C			124323620	124323620	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	missense	54	48.57	51	SNP	0.941	T
SYNGAP1	8831	genome.wustl.edu	37	6	33403296	33403296	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr6:33403296C>T	ENST00000418600.2	+	7	769	c.668C>T	c.(667-669)aCa>aTa	p.T223I	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.T164I|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.T223I|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	223	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCTAGGTAACAACTTCATCA	0.517																																						dbGAP											0													193.0	176.0	182.0					6																	33403296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.668C>T	6.37:g.33403296C>T	ENSP00000403636:p.Thr223Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.T223I	ENST00000418600.2	37	c.668	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789045	0.49997	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.92595	-3.07;-3.07;-3.07	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.42245	1.32	0.80722	D	1	B;B;B	0.17667	0.01;0.009;0.023	B;B;B	0.21151	0.005;0.007;0.033	D	0.84513	0.0623	10	0.66056	D	0.02	.	14.8581	0.70355	0.0:1.0:0.0:0.0	.	223;223;223	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	I	223;223;223;164	ENSP00000293748:T223I;ENSP00000403636:T223I;ENSP00000412475:T164I	ENSP00000293748:T223I	T	+	2	0	SYNGAP1	33511274	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.920000	0.70017	2.356000	0.79943	0.543000	0.68304	ACA	SYNGAP1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000197283		0.517	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	217	0.46	1	C	XM_166407		33403296	33403296	+1	no_errors	ENST00000418600	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27183605	27183605	+	Silent	SNP	C	C	G			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr9:27183605C>G	ENST00000380036.4	+	8	1621	c.1179C>G	c.(1177-1179)ctC>ctG	p.L393L	TEK_ENST00000519097.1_Silent_p.L246L|TEK_ENST00000406359.4_Silent_p.L350L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	393	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)	GGACAGTGCTCCATGTAAGAG	0.423																																						dbGAP											0													129.0	142.0	137.0					9																	27183605		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.1179C>G	9.37:g.27183605C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	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.L393	ENST00000380036.4	37	c.1179	CCDS6519.1	9																																																																																			TEK	-	pfscan_Ig-like	ENSG00000120156		0.423	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	19	0.00	0	C			27183605	27183605	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.050	G
TP53	7157	genome.wustl.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr17:7577094G>C	ENST00000269305.4	-	8	1033	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000445888.2_Missense_Mutation_p.R282G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|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 by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|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)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574						83.0	71.0	75.0					17																	7577094		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>G	17.37:g.7577094G>C	ENSP00000269305:p.Arg282Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282G	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743784	0.69418	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89968	3.075	0.58432	D	0.999997	P;D;P;P	0.89917	0.826;1.0;0.856;0.483	P;D;P;P	0.79108	0.751;0.992;0.839;0.591	D	0.98579	1.0649	10	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	282;282;282;282;282;271;150	ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G	ENSP00000269305:R282G	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	204	0.00	0	G	NM_000546		7577094	7577094	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	23	62.90	39	SNP	0.997	C
TPD52L2	7165	genome.wustl.edu	37	20	62505106	62505106	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr20:62505106C>T	ENST00000346249.4	+	3	327	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TPD52L2_ENST00000369927.4_Missense_Mutation_p.S61F|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S84F|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S84F|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S84F|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S84F|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S84F	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	84					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTGGGCCTCTCCACCCTGGGG	0.622																																						dbGAP											0													47.0	47.0	47.0					20																	62505106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.251C>T	20.37:g.62505106C>T	ENSP00000343547:p.Ser84Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.S84F	ENST00000346249.4	37	c.251	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741480	0.69304	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.48	5.48	0.80851	.	0.267496	0.35936	N	0.002899	T	0.48750	0.1517	M	0.69358	2.11	0.40962	D	0.984632	P;P;D;D;P;D;P;P	0.54601	0.953;0.752;0.967;0.967;0.927;0.959;0.708;0.86	P;P;P;P;P;P;P;P	0.61658	0.752;0.555;0.892;0.892;0.828;0.857;0.555;0.74	T	0.50329	-0.8841	10	0.87932	D	0	-15.1881	17.9963	0.89185	0.0:1.0:0.0:0.0	.	61;35;84;84;84;84;84;84	B4DPJ6;B4DDV4;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;TPD54_HUMAN;.;.;.;.	F	61;84;84;84;84;84;84	ENSP00000358943:S61F;ENSP00000343547:S84F;ENSP00000343554:S84F;ENSP00000344647:S84F;ENSP00000340006:S84F;ENSP00000217121:S84F;ENSP00000351350:S84F	ENSP00000217121:S84F	S	+	2	0	TPD52L2	61975550	0.928000	0.31464	0.945000	0.38365	0.994000	0.84299	1.881000	0.39638	2.601000	0.87937	0.460000	0.39030	TCC	TPD52L2	-	pfam_TPD52	ENSG00000101150		0.622	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1	35	0.00	0	C			62505106	62505106	+1	no_errors	ENST00000217121	ensembl	human	known	69_37n	missense	13	60.61	20	SNP	0.833	T
TXLNA	200081	genome.wustl.edu	37	1	32647073	32647073	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr1:32647073G>A	ENST00000373609.1	+	2	681	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E134K			P40222	TXLNA_HUMAN	taxilin alpha	134					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGAGAGAAGGAACCCTCCAA	0.562																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.400G>A	1.37:g.32647073G>A	ENSP00000362711:p.Glu134Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin	p.E134K	ENST00000373609.1	37	c.400	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354224	0.61293	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.35605	1.3;1.3	4.61	4.61	0.57282	.	0.181464	0.40144	N	0.001167	T	0.54743	0.1877	L	0.59436	1.845	0.46701	D	0.999162	D	0.69078	0.997	D	0.75020	0.985	T	0.48725	-0.9010	10	0.22706	T	0.39	-21.4838	17.4821	0.87675	0.0:0.0:1.0:0.0	.	134	P40222	TXLNA_HUMAN	K	134	ENSP00000362712:E134K;ENSP00000362711:E134K	ENSP00000362711:E134K	E	+	1	0	TXLNA	32419660	1.000000	0.71417	0.995000	0.50966	0.811000	0.45836	8.690000	0.91272	2.286000	0.76751	0.650000	0.86243	GAA	TXLNA	-	NULL	ENSG00000084652		0.562	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	37	0.00	0	G	NM_175852		32647073	32647073	+1	no_errors	ENST00000373609	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82817555	82817555	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr5:82817555G>T	ENST00000265077.3	+	7	3995	c.3430G>T	c.(3430-3432)Ggt>Tgt	p.G1144C	VCAN_ENST00000342785.4_Missense_Mutation_p.G1144C|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1096C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1144	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAAACAGAAGGTAGTAGTAC	0.403																																						dbGAP											0													89.0	85.0	87.0					5																	82817555		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3430G>T	5.37:g.82817555G>T	ENSP00000265077:p.Gly1144Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.G1144C	ENST00000265077.3	37	c.3430	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	9.655	1.142503	0.21205	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86627	-2.01;-2.13;-2.15	5.81	-0.502	0.12004	.	0.841148	0.10589	N	0.656973	D	0.86961	0.6059	L	0.50333	1.59	0.24389	N	0.994753	D;D	0.63880	0.993;0.993	P;P	0.56514	0.8;0.72	T	0.76377	-0.2981	10	0.87932	D	0	.	5.1999	0.15258	0.4761:0.1477:0.3762:0.0	.	1144;1144	P13611-3;P13611	.;CSPG2_HUMAN	C	1144;1144;1096	ENSP00000265077:G1144C;ENSP00000342768:G1144C;ENSP00000425959:G1096C	ENSP00000265077:G1144C	G	+	1	0	VCAN	82853311	0.782000	0.28689	0.843000	0.33291	0.004000	0.04260	0.192000	0.17096	-0.421000	0.07416	-0.908000	0.02827	GGT	VCAN	-	NULL	ENSG00000038427		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	25	0.00	0	G	NM_004385		82817555	82817555	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	16	42.86	12	SNP	0.547	T
DPH7	92715	genome.wustl.edu	37	9	140449871	140449871	+	Silent	SNP	C	C	T			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr9:140449871C>T	ENST00000277540.2	-	9	1336	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	393					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												TCATTCCACTCTGGGGTCTGG	0.572																																						dbGAP											0													147.0	117.0	127.0					9																	140449871		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.1179G>A	9.37:g.140449871C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AB7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q393	ENST00000277540.2	37	c.1179	CCDS7047.1	9																																																																																			WDR85	-	NULL	ENSG00000148399		0.572	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR85	HGNC	protein_coding	OTTHUMT00000055350.1	43	0.00	0	C	NM_138778		140449871	140449871	-1	no_errors	ENST00000277540	ensembl	human	known	69_37n	silent	136	22.29	39	SNP	0.000	T
ZNF551	90233	genome.wustl.edu	37	19	58197960	58197960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:58197960delT	ENST00000282296.5	+	3	502	c.317delT	c.(316-318)attfs	p.I106fs	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Frame_Shift_Del_p.I90fs			Q7Z340	ZN551_HUMAN	zinc finger protein 551	106					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)		CTCAGTGAGATTAAGATGTGT	0.478																																						dbGAP											0													125.0	121.0	123.0					19																	58197960		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.317delT	19.37:g.58197960delT	ENSP00000282296:p.Ile106fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	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.K107fs	ENST00000282296.5	37	c.317	CCDS12959.2	19																																																																																			ZNF551	-	NULL	ENSG00000204519		0.478	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	67	0.00	0	T	NM_138347		58197960	58197960	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	frame_shift_del	48	11.11	6	DEL	0.004	-
ZNF551	90233	genome.wustl.edu	37	19	58197963	58197966	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:58197963_58197966delAGAT	ENST00000282296.5	+	3	505_508	c.320_323delAGAT	c.(319-324)aagatgfs	p.KM107fs	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Frame_Shift_Del_p.KM91fs			Q7Z340	ZN551_HUMAN	zinc finger protein 551	107					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)		AGTGAGATTAAGATGTGTGTCCCA	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.320_323delAGAT	19.37:g.58197963_58197966delAGAT	ENSP00000282296:p.Lys107fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	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.K107fs	ENST00000282296.5	37	c.320_323	CCDS12959.2	19																																																																																			ZNF551	-	NULL	ENSG00000204519		0.480	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	67	0.00	0	AGAT	NM_138347		58197963	58197966	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	frame_shift_del	45	11.76	6	DEL	0.008:0.003:0.003:0.025	-
ZNF563	147837	genome.wustl.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A	rs555208908		TCGA-D8-A1XJ-01A-11D-A14K-09	TCGA-D8-A1XJ-10A-01W-A16I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a37b27a2-c3b0-4f62-82a2-94e9205b1d6e	bb7de09d-aefe-45f2-8e12-7af57c30cbf4	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418																																					GBM(39;623 795 5132 29510 31476)	dbGAP											0													170.0	161.0	164.0					19																	12429836		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1003C>T	19.37:g.12429836G>A	ENSP00000293725:p.Arg335*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E7|Q8NAT7	Nonsense_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.R335*	ENST00000293725.5	37	c.1003	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	ZNF563	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA	ZNF563	-	pfscan_Znf_C2H2	ENSG00000188868		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	119	0.00	0	G	NM_145276		12429836	12429836	-1	no_errors	ENST00000293725	ensembl	human	known	69_37n	nonsense	182	36.36	104	SNP	0.976	A
