#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
ANKRD34C	390616	genome.wustl.edu	37	15	79586096	79586096	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr15:79586096C>T	ENST00000558647.2	+	1	470	c.470C>T	c.(469-471)tCg>tTg	p.S157L	ANKRD34C_ENST00000421388.2_Missense_Mutation_p.S157L			P0C6C1	AN34C_HUMAN	ankyrin repeat domain 34C	157										endometrium(3)|kidney(1)|skin(1)	5						ACAGATAAATCGTCTTCAGGC	0.443																																						dbGAP											0													65.0	55.0	58.0					15																	79586096		685	1584	2269	-	-	-	SO:0001583	missense	0				CCDS53965.1	15q25.1	2013-01-10			ENSG00000235711	ENSG00000235711		"""Ankyrin repeat domain containing"""	33888	protein-coding gene	gene with protein product							Standard	NM_001146341		Approved		uc002bet.3	P0C6C1		ENST00000558647.2:c.470C>T	15.37:g.79586096C>T	ENSP00000454921:p.Ser157Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BNM1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S157L	ENST00000558647.2	37	c.470	CCDS53965.1	15	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490888	0.44249	.	.	ENSG00000235711	ENST00000421388	T	0.28895	1.59	4.2	4.2	0.49525	.	.	.	.	.	T	0.50017	0.1591	L	0.58428	1.81	0.45216	D	0.99822	D	0.89917	1.0	D	0.78314	0.991	T	0.47699	-0.9097	9	0.45353	T	0.12	.	14.4375	0.67293	0.0:1.0:0.0:0.0	.	157	P0C6C1	AN34C_HUMAN	L	157	ENSP00000401089:S157L	ENSP00000401089:S157L	S	+	2	0	ANKRD34C	77373151	1.000000	0.71417	0.042000	0.18584	0.002000	0.02628	7.165000	0.77544	2.300000	0.77407	0.561000	0.74099	TCG	ANKRD34C	-	NULL	ENSG00000235711		0.443	ANKRD34C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34C	HGNC	protein_coding	OTTHUMT00000416713.2	61	0.00	0	C	NM_001146341		79586096	79586096	+1	no_errors	ENST00000421388	ensembl	human	known	69_37n	missense	63	13.51	10	SNP	0.998	T
ASXL1	171023	genome.wustl.edu	37	20	31021535	31021535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr20:31021535C>T	ENST00000375687.4	+	12	1958	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q507*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	512	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TAGCCTGCCTCAGGAAACTGT	0.547			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													132.0	143.0	139.0					20																	31021535		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1534C>T	20.37:g.31021535C>T	ENSP00000364839:p.Gln512*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.Q512*	ENST00000375687.4	37	c.1534	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.592026	0.96590	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.91	4.91	0.64330	.	0.183297	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	0.2314	18.6696	0.91506	0.0:1.0:0.0:0.0	.	.	.	.	X	512;512;512;451;507	.	ENSP00000305119:Q507X	Q	+	1	0	ASXL1	30485196	1.000000	0.71417	0.987000	0.45799	0.008000	0.06430	5.903000	0.69877	2.723000	0.93209	0.655000	0.94253	CAG	ASXL1	-	NULL	ENSG00000171456		0.547	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	66	0.00	0	C	NM_015338		31021535	31021535	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	nonsense	41	14.58	7	SNP	1.000	T
CD55	1604	genome.wustl.edu	37	1	207498015	207498015	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr1:207498015delA	ENST00000367064.3	+	3	656	c.398delA	c.(397-399)tacfs	p.Y133fs	CD55_ENST00000367065.5_Frame_Shift_Del_p.Y133fs|CD55_ENST00000314754.8_Frame_Shift_Del_p.Y133fs|CD55_ENST00000367067.4_Frame_Shift_Del_p.L104fs|CD55_ENST00000367062.4_Frame_Shift_Del_p.Y133fs|CD55_ENST00000391921.4_Intron|CD55_ENST00000367063.2_Frame_Shift_Del_p.Y133fs|CD55_ENST00000391920.4_Frame_Shift_Del_p.Y133fs|CD55_ENST00000465534.1_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	133	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CGTCCAGGTTACAGAAGAGAA	0.383																																						dbGAP											0													108.0	107.0	107.0					1																	207498015		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.398delA	1.37:g.207498015delA	ENSP00000356031:p.Tyr133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y133fs	ENST00000367064.3	37	c.398	CCDS31006.1	1																																																																																			CD55	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000196352		0.383	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	121	0.00	0	A	NM_000574		207498015	207498015	+1	no_errors	ENST00000314754	ensembl	human	known	69_37n	frame_shift_del	64	16.25	13	DEL	0.338	-
CHN2	1124	genome.wustl.edu	37	7	29535591	29535591	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr7:29535591C>A	ENST00000222792.6	+	8	1208	c.678C>A	c.(676-678)caC>caA	p.H226Q	CHN2_ENST00000421775.2_Missense_Mutation_p.H90Q|CHN2_ENST00000539389.1_Missense_Mutation_p.H82Q|CHN2_ENST00000495789.2_Missense_Mutation_p.H239Q|CHN2_ENST00000439711.2_Missense_Mutation_p.H90Q|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000409041.4_Missense_Mutation_p.H90Q|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.H211Q|CHN2_ENST00000424025.2_Missense_Mutation_p.H45Q|CHN2_ENST00000539406.1_Missense_Mutation_p.H301Q	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	226					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.H90Q(1)|p.H226Q(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCCCACACTGGTGTGAAT	0.453																																					Ovarian(1;44 48 13232 18918 31480)	dbGAP											2	Substitution - Missense(2)	lung(2)											77.0	72.0	74.0					7																	29535591		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.678C>A	7.37:g.29535591C>A	ENSP00000222792:p.His226Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.H301Q	ENST00000222792.6	37	c.903	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	c	15.37	2.812188	0.50527	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.84	3.06	0.35304	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	L	0.35854	1.095	0.20975	N	0.999812	D;P;D;D;D;P;D;P;B;B;D;P;D;D;D	0.76494	0.963;0.771;0.999;0.999;0.96;0.877;0.999;0.771;0.417;0.387;0.977;0.92;0.987;0.96;0.987	P;P;D;D;P;P;D;P;B;B;P;P;D;P;D	0.83275	0.696;0.475;0.996;0.994;0.66;0.627;0.996;0.673;0.374;0.212;0.86;0.627;0.985;0.767;0.985	D	0.87662	0.2535	10	0.72032	D	0.01	.	13.6001	0.62013	0.0:0.7898:0.0:0.2102	.	19;211;239;301;45;45;90;90;90;90;90;82;226;90;226	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCF6;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	Q	301;226;239;82;211;51;90;45;90;90	ENSP00000444063:H301Q;ENSP00000222792:H226Q;ENSP00000438587:H239Q;ENSP00000440526:H82Q;ENSP00000442812:H211Q;ENSP00000396867:H51Q;ENSP00000386849:H90Q;ENSP00000406337:H45Q;ENSP00000387425:H90Q;ENSP00000394284:H90Q	ENSP00000222792:H226Q	H	+	3	2	CHN2	29502116	0.996000	0.38824	1.000000	0.80357	0.955000	0.61496	0.564000	0.23563	0.383000	0.24910	-2.078000	0.00380	CAC	CHN2	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000106069		0.453	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	109	0.00	0	C	NM_004067		29535591	29535591	+1	no_errors	ENST00000539406	ensembl	human	known	69_37n	missense	89	16.04	17	SNP	1.000	A
COL6A6	131873	genome.wustl.edu	37	3	130292858	130292858	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr3:130292858G>T	ENST00000358511.6	+	7	3067	c.3036G>T	c.(3034-3036)caG>caT	p.Q1012H	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q1012H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1012	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTAGCATTCAGCCAAATGACT	0.398																																						dbGAP											0													84.0	77.0	79.0					3																	130292858		1868	4099	5967	-	-	-	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3036G>T	3.37:g.130292858G>T	ENSP00000351310:p.Gln1012His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Q1012H	ENST00000358511.6	37	c.3036	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.591013	0.00864	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77877	-1.13;-1.13	5.23	-9.93	0.00452	von Willebrand factor, type A (3);	0.762633	0.11902	N	0.518495	T	0.51126	0.1656	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27938	-1.0059	10	0.31617	T	0.26	.	8.2008	0.31424	0.0743:0.2401:0.0752:0.6104	.	1012	A6NMZ7	CO6A6_HUMAN	H	1012	ENSP00000351310:Q1012H;ENSP00000399236:Q1012H	ENSP00000351310:Q1012H	Q	+	3	2	COL6A6	131775548	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.397000	0.00067	-2.203000	0.00744	-1.359000	0.01217	CAG	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.398	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	146	0.00	0	G	NM_001102608		130292858	130292858	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	missense	107	19.55	26	SNP	0.000	T
DHX32	55760	genome.wustl.edu	37	10	127527669	127527669	+	Silent	SNP	A	A	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr10:127527669A>G	ENST00000284690.3	-	9	2272	c.1782T>C	c.(1780-1782)atT>atC	p.I594I	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Silent_p.I218I|DHX32_ENST00000284688.6_Silent_p.I513I|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	594						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCGCTTGATAATTTCTAAGA	0.433																																						dbGAP											0													136.0	132.0	133.0					10																	127527669		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1782T>C	10.37:g.127527669A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.I594	ENST00000284690.3	37	c.1782	CCDS7652.1	10																																																																																			DHX32	-	pfam_DUF1605	ENSG00000089876		0.433	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	130	0.00	0	A	NM_018180		127527669	127527669	-1	no_errors	ENST00000284690	ensembl	human	known	69_37n	silent	95	12.04	13	SNP	0.270	G
ELP6	54859	genome.wustl.edu	37	3	47555027	47555027	+	Splice_Site	SNP	C	C	A	rs545060366		TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr3:47555027C>A	ENST00000296149.4	-	1	224	c.54G>T	c.(52-54)caG>caT	p.Q18H	ELP6_ENST00000446787.1_5'Flank|ELP6_ENST00000439305.1_5'Flank|ELP6_ENST00000460502.1_5'Flank	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	18					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GACCTCTTACCTGCTCCGCCC	0.657																																						dbGAP											0													39.0	41.0	40.0					3																	47555027		1870	4084	5954	-	-	-	SO:0001630	splice_region_variant	0			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"""Elongator acetyltransferase complex subunits"""	25976	protein-coding gene	gene with protein product		615020	"""transmembrane protein 103"", ""chromosome 3 open reading frame 75"""	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.54+1G>T	3.37:g.47555027C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BW57|Q9NXJ3	Missense_Mutation	SNP	pfam_UPF0405	p.Q18H	ENST00000296149.4	37	c.54	CCDS43082.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143537	0.77888	.	.	ENSG00000163832	ENST00000296149;ENST00000450051	.	.	.	5.35	4.48	0.54585	.	0.519168	0.20990	N	0.082050	T	0.66963	0.2843	M	0.68952	2.095	0.80722	D	1	P;P	0.48911	0.897;0.917	P;P	0.56960	0.696;0.81	T	0.66551	-0.5895	8	.	.	.	-29.5908	9.6838	0.40087	0.0:0.9074:0.0:0.0926	.	18;18	C9JAS1;Q0PNE2	.;CC075_HUMAN	H	18	.	.	Q	-	3	2	C3orf75	47530031	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	2.678000	0.46900	1.499000	0.48617	0.655000	0.94253	CAG	ELP6	-	pfam_UPF0405	ENSG00000163832		0.657	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP6	HGNC	protein_coding	OTTHUMT00000257493.1	63	0.00	0	C	NM_017713	Missense_Mutation	47555027	47555027	-1	no_errors	ENST00000296149	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	1.000	A
EML5	161436	genome.wustl.edu	37	14	89172755	89172755	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr14:89172755T>A	ENST00000380664.5	-	11	1672	c.1673A>T	c.(1672-1674)aAa>aTa	p.K558I	EML5_ENST00000554922.1_Missense_Mutation_p.K558I|EML5_ENST00000352093.5_Missense_Mutation_p.K558I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	558						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCAATATATTTTCTAAACTT	0.318																																						dbGAP											0													41.0	41.0	41.0					14																	89172755		1805	4067	5872	-	-	-	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1673A>T	14.37:g.89172755T>A	ENSP00000370039:p.Lys558Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K558I	ENST00000380664.5	37	c.1673	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207609	0.58343	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.58940	0.3;0.3;0.3	4.25	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.64630	1.985	0.58432	D	0.99999	D	0.76494	0.999	D	0.71656	0.974	T	0.70702	-0.4799	10	0.38643	T	0.18	-17.2483	13.8304	0.63377	0.0:0.0:0.0:1.0	.	558	Q05BV3	EMAL5_HUMAN	I	558	ENSP00000451998:K558I;ENSP00000298315:K558I;ENSP00000370039:K558I	ENSP00000298315:K558I	K	-	2	0	EML5	88242508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	1.900000	0.55004	0.460000	0.39030	AAA	EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000165521		0.318	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	72	0.00	0	T			89172755	89172755	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	A
FAM13A	10144	genome.wustl.edu	37	4	89649699	89649699	+	Silent	SNP	A	A	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr4:89649699A>G	ENST00000264344.5	-	24	3264	c.3057T>C	c.(3055-3057)gaT>gaC	p.D1019D	FAM13A_ENST00000511976.1_Silent_p.D605D|FAM13A_ENST00000395002.2_Silent_p.D665D|FAM13A_ENST00000503556.1_Silent_p.D679D|FAM13A_ENST00000513837.1_Silent_p.D665D|FAM13A-AS1_ENST00000511543.1_RNA|FAM13A_ENST00000508369.1_Silent_p.D693D|FAM13A-AS1_ENST00000500765.1_RNA	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	1019					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TGGACTTGGAATCAGTGTCTC	0.537																																						dbGAP											0													151.0	130.0	137.0					4																	89649699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.3057T>C	4.37:g.89649699A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D1019	ENST00000264344.5	37	c.3057	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.537	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	196	0.00	0	A			89649699	89649699	-1	no_errors	ENST00000264344	ensembl	human	known	69_37n	silent	177	22.61	52	SNP	0.247	G
GDPD1	284161	genome.wustl.edu	37	17	57334498	57334498	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr17:57334498G>A	ENST00000284116.4	+	5	520	c.383G>A	c.(382-384)gGa>gAa	p.G128E	GDPD1_ENST00000581140.1_Missense_Mutation_p.G128E|GDPD1_ENST00000581276.1_Missense_Mutation_p.G128E	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	128	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CAGTGTGAAGGAAAAGATAAC	0.313																																						dbGAP											0													131.0	116.0	121.0					17																	57334498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.383G>A	17.37:g.57334498G>A	ENSP00000284116:p.Gly128Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.G128E	ENST00000284116.4	37	c.383	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613270	0.46631	.	.	ENSG00000153982	ENST00000284116	T	0.12569	2.67	5.47	5.47	0.80525	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	L	0.34521	1.04	0.58432	D	0.999996	P;B	0.49862	0.929;0.056	P;B	0.48952	0.596;0.051	T	0.00834	-1.1547	10	0.33141	T	0.24	.	18.3274	0.90259	0.0:0.0:1.0:0.0	.	128;128	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	E	128	ENSP00000284116:G128E	ENSP00000284116:G128E	G	+	2	0	GDPD1	54689280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.568000	0.86640	0.561000	0.74099	GGA	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.313	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	177	0.00	0	G	NM_182569		57334498	57334498	+1	no_errors	ENST00000284116	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	1.000	A
KANSL1L	151050	genome.wustl.edu	37	2	211018779	211018779	+	Silent	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr2:211018779C>T	ENST00000281772.9	-	2	791	c.528G>A	c.(526-528)gaG>gaA	p.E176E	KANSL1L_ENST00000418791.1_Silent_p.E176E|KANSL1L_ENST00000452086.1_Silent_p.E176E|KANSL1L_ENST00000457374.1_Silent_p.E176E|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	176						histone acetyltransferase complex (GO:0000123)											AAAGTGCATTCTCTTGATACC	0.338																																						dbGAP											0													131.0	124.0	127.0					2																	211018779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.528G>A	2.37:g.211018779C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	NULL	p.E176	ENST00000281772.9	37	c.528	CCDS33370.1	2																																																																																			KANSL1L	-	NULL	ENSG00000144445		0.338	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	185	0.54	1	C	NM_152519		211018779	211018779	-1	no_errors	ENST00000281772	ensembl	human	known	69_37n	silent	138	13.12	21	SNP	1.000	T
KIF16B	55614	genome.wustl.edu	37	20	16474996	16474996	+	Splice_Site	SNP	C	C	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr20:16474996C>A	ENST00000354981.2	-	12	1400		c.e12-1		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATTCTTGAACCTGAAAAGAAA	0.303																																						dbGAP											0													92.0	82.0	86.0					20																	16474996		2199	4296	6495	-	-	-	SO:0001630	splice_region_variant	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1243-1G>T	20.37:g.16474996C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	-	e12-1	ENST00000354981.2	37	c.1243-1	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448455	0.84101	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5942	0.95527	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16422996	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.689000	0.74562	2.707000	0.92482	0.650000	0.86243	.	KIF16B	-	-	ENSG00000089177		0.303	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	269	0.00	0	C	NM_017683	Intron	16474996	16474996	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	splice_site	180	14.29	30	SNP	1.000	A
KIRREL3	84623	genome.wustl.edu	37	11	126294697	126294697	+	Silent	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr11:126294697C>T	ENST00000525144.2	-	17	2364	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	KIRREL3_ENST00000529097.2_Silent_p.E693E|KIRREL3_ENST00000416561.2_Silent_p.E172E	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	705	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTCACAAAGCTCGATGGACG	0.627																																						dbGAP											0													62.0	70.0	67.0					11																	126294697		2162	4274	6436	-	-	-	SO:0001819	synonymous_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2115G>A	11.37:g.126294697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E705	ENST00000525144.2	37	c.2115	CCDS53723.1	11																																																																																			KIRREL3	-	NULL	ENSG00000149571		0.627	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	95	0.00	0	C	NM_032531		126294697	126294697	-1	no_errors	ENST00000525144	ensembl	human	known	69_37n	silent	120	11.11	15	SNP	1.000	T
LAMA1	284217	genome.wustl.edu	37	18	7046346	7046346	+	Silent	SNP	G	G	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr18:7046346G>A	ENST00000389658.3	-	6	882	c.789C>T	c.(787-789)gaC>gaT	p.D263D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	263	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAACAGAAATGTCCTTTATTG	0.333																																						dbGAP											0													78.0	80.0	79.0					18																	7046346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.789C>T	18.37:g.7046346G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D263	ENST00000389658.3	37	c.789	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.333	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	119	0.00	0	G	NM_005559		7046346	7046346	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	silent	81	17.17	17	SNP	1.000	A
MAGEE2	139599	genome.wustl.edu	37	X	75004120	75004120	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chrX:75004120C>G	ENST00000373359.2	-	1	959	c.767G>C	c.(766-768)aGa>aCa	p.R256T		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	256	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGTGGGCTCTAGAGCCCCA	0.498																																						dbGAP											0													61.0	58.0	59.0					X																	75004120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.767G>C	X.37:g.75004120C>G	ENSP00000362457:p.Arg256Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R256T	ENST00000373359.2	37	c.767	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	C	9.188	1.025287	0.19433	.	.	ENSG00000186675	ENST00000373359	T	0.22539	1.95	3.1	2.23	0.28157	.	.	.	.	.	T	0.42765	0.1217	M	0.87456	2.885	0.09310	N	1	D	0.67145	0.996	P	0.61328	0.887	T	0.21827	-1.0234	9	0.87932	D	0	.	5.2674	0.15607	0.0:0.8367:0.0:0.1633	.	256	Q8TD90	MAGE2_HUMAN	T	256	ENSP00000362457:R256T	ENSP00000362457:R256T	R	-	2	0	MAGEE2	74920845	1.000000	0.71417	0.065000	0.19835	0.897000	0.52465	1.148000	0.31614	0.689000	0.31550	0.422000	0.28245	AGA	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.498	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	76	0.00	0	C	NM_138703		75004120	75004120	-1	no_errors	ENST00000373359	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	0.053	G
MAP3K1	4214	genome.wustl.edu	37	5	56168534	56168534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr5:56168534delC	ENST00000399503.3	+	8	1490	c.1490delC	c.(1489-1491)tctfs	p.S497fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	497					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGTGGAGATCTCATGATTTC	0.284																																						dbGAP											0													82.0	77.0	79.0					5																	56168534		1788	4064	5852	-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1490delC	5.37:g.56168534delC	ENSP00000382423:p.Ser497fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S497fs	ENST00000399503.3	37	c.1490	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.284	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	132	0.00	0	C	XM_042066		56168534	56168534	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	56	29.11	23	DEL	1.000	-
MAP3K1	4214	genome.wustl.edu	37	5	56181812	56181814	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	GTT	GTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr5:56181812_56181814delGTT	ENST00000399503.3	+	17	4036_4038	c.4036_4038delGTT	c.(4036-4038)gttdel	p.V1346del		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1346	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.V1183delV(1)|p.V1346delV(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAATCAGTAGTTATTAACTACA	0.345																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4036_4038delGTT	5.37:g.56181812_56181814delGTT	ENSP00000382423:p.Val1346del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.V1346in_frame_del	ENST00000399503.3	37	c.4036_4038	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.345	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	175	0.00	0	GTT	XM_042066		56181812	56181814	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	in_frame_del	111	13.74	18	DEL	0.983:1.000:0.998	-
MAP3K1	4214	genome.wustl.edu	37	5	56183211	56183211	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr5:56183211A>G	ENST00000399503.3	+	18	4121	c.4121A>G	c.(4120-4122)aAt>aGt	p.N1374S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGGTGCCAATTTGCTAATT	0.413																																						dbGAP											0													104.0	94.0	97.0					5																	56183211		1871	4113	5984	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4121A>G	5.37:g.56183211A>G	ENSP00000382423:p.Asn1374Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.N1374S	ENST00000399503.3	37	c.4121	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	22.9	4.345265	0.82022	.	.	ENSG00000095015	ENST00000399503	D	0.91945	-2.94	5.38	5.38	0.77491	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	D	0.97854	0.9295	H	0.98721	4.31	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.99597	1.0977	10	0.87932	D	0	.	15.68	0.77360	1.0:0.0:0.0:0.0	.	1374	Q13233	M3K1_HUMAN	S	1374	ENSP00000382423:N1374S	ENSP00000382423:N1374S	N	+	2	0	MAP3K1	56218968	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.801000	0.85960	2.161000	0.67846	0.460000	0.39030	AAT	MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.413	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	168	0.00	0	A	XM_042066		56183211	56183211	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	136	15.53	25	SNP	1.000	G
MAP3K1	4214	genome.wustl.edu	37	5	56184105	56184105	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr5:56184105G>T	ENST00000399503.3	+	19	4310	c.4310G>T	c.(4309-4311)tGt>tTt	p.C1437F		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGTGTTGGCTGTGCTATTATA	0.343																																						dbGAP											0													153.0	147.0	149.0					5																	56184105		1892	4128	6020	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4310G>T	5.37:g.56184105G>T	ENSP00000382423:p.Cys1437Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.C1437F	ENST00000399503.3	37	c.4310	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443851	0.83993	.	.	ENSG00000095015	ENST00000399503	T	0.27104	1.69	5.78	5.78	0.91487	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	0.65688	0.2715	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75150	-0.3419	10	0.87932	D	0	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	1437	Q13233	M3K1_HUMAN	F	1437	ENSP00000382423:C1437F	ENSP00000382423:C1437F	C	+	2	0	MAP3K1	56219862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.522000	0.90573	2.736000	0.93811	0.557000	0.71058	TGT	MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	352	0.00	0	G	XM_042066		56184105	56184105	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	225	16.04	43	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17085795	17085795	+	RNA	SNP	G	G	T	rs1057379	byFrequency	TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr1:17085795G>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I332I(2)|p.I342I(2)									TACAACGCCGGATCTGGTAGC	0.687																																						dbGAP											4	Substitution - coding silent(4)	kidney(2)|endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085795G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.I342	ENST00000455405.2	37	c.1026		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.687	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	30	0.00	0	G	NM_001271733		17085795	17085795	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	53	11.67	7	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9088087	9088087	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr19:9088087G>T	ENST00000397910.4	-	1	3931	c.3728C>A	c.(3727-3729)cCt>cAt	p.P1243H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1243	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGATTCAGGGTAGGTGCT	0.522																																						dbGAP											0													380.0	372.0	375.0					19																	9088087		2120	4244	6364	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3728C>A	19.37:g.9088087G>T	ENSP00000381008:p.Pro1243His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P1243H	ENST00000397910.4	37	c.3728	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.696	-0.272116	0.05716	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.38	0.285	0.15705	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.58331	0.837	T	0.41822	-0.9487	8	0.87932	D	0	.	3.6782	0.08299	0.2605:0.0:0.7395:0.0	.	1243	B5ME49	.	H	1243	ENSP00000381008:P1243H	ENSP00000381008:P1243H	P	-	2	0	MUC16	8949087	0.000000	0.05858	0.001000	0.08648	0.163000	0.22366	-0.580000	0.05827	0.134000	0.18681	0.305000	0.20034	CCT	MUC16	-	NULL	ENSG00000181143		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	252	0.00	0	G	NM_024690		9088087	9088087	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	254	11.15	32	SNP	0.001	T
MYO3A	53904	genome.wustl.edu	37	10	26409687	26409687	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr10:26409687A>G	ENST00000265944.5	+	18	2025	c.1859A>G	c.(1858-1860)cAg>cGg	p.Q620R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	620	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTGAACACCAGATTGACAAG	0.373																																						dbGAP											0													145.0	128.0	134.0					10																	26409687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1859A>G	10.37:g.26409687A>G	ENSP00000265944:p.Gln620Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.Q620R	ENST00000265944.5	37	c.1859	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476361	0.84640	.	.	ENSG00000095777	ENST00000265944	T	0.70749	-0.51	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.110120	0.64402	D	0.000007	T	0.70596	0.3242	N	0.17345	0.48	0.80722	D	1	D	0.57257	0.979	D	0.64877	0.93	T	0.74352	-0.3693	10	0.62326	D	0.03	.	11.2788	0.49181	0.8319:0.0:0.0:0.1681	.	620	Q8NEV4	MYO3A_HUMAN	R	620	ENSP00000265944:Q620R	ENSP00000265944:Q620R	Q	+	2	0	MYO3A	26449693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.284000	0.76573	0.528000	0.53228	CAG	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000095777		0.373	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	185	0.00	0	A	NM_017433		26409687	26409687	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	123	24.07	39	SNP	1.000	G
MYO5B	4645	genome.wustl.edu	37	18	47402068	47402068	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr18:47402068T>G	ENST00000285039.7	-	26	3825	c.3526A>C	c.(3526-3528)Aag>Cag	p.K1176Q	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.K317Q	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1176					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGACTTTCTTGCTGTCCTGC	0.532																																						dbGAP											0													226.0	233.0	231.0					18																	47402068		2116	4229	6345	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3526A>C	18.37:g.47402068T>G	ENSP00000285039:p.Lys1176Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1176Q	ENST00000285039.7	37	c.3526	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440620	0.43326	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.19532	2.14;2.14	5.28	2.85	0.33270	.	0.615660	0.16580	N	0.208258	T	0.22975	0.0555	M	0.62723	1.935	0.30439	N	0.776359	B;B	0.26258	0.0;0.145	B;B	0.28709	0.004;0.093	T	0.13388	-1.0511	10	0.25751	T	0.34	.	11.9871	0.53153	0.0:0.0:0.2922:0.7078	.	1176;317	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1176;317	ENSP00000285039:K1176Q;ENSP00000315531:K317Q	ENSP00000285039:K1176Q	K	-	1	0	MYO5B	45656066	1.000000	0.71417	0.760000	0.31359	0.987000	0.75469	0.812000	0.27211	0.311000	0.23014	0.459000	0.35465	AAG	MYO5B	-	NULL	ENSG00000167306		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	247	0.00	0	T			47402068	47402068	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	217	16.48	43	SNP	1.000	G
PCNT	5116	genome.wustl.edu	37	21	47821574	47821574	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr21:47821574C>T	ENST00000359568.5	+	26	5008	c.4901C>T	c.(4900-4902)cCt>cTt	p.P1634L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1634					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCAGCCCTCCTGAGGGTCCA	0.587																																						dbGAP											0													87.0	83.0	84.0					21																	47821574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4901C>T	21.37:g.47821574C>T	ENSP00000352572:p.Pro1634Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.P1634L	ENST00000359568.5	37	c.4901	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	C	12.52	1.964060	0.34659	.	.	ENSG00000160299	ENST00000359568	T	0.59224	0.28	5.64	1.38	0.22167	.	0.865236	0.09255	N	0.827281	T	0.48295	0.1492	L	0.56769	1.78	0.09310	N	1	B;B	0.22276	0.041;0.067	B;B	0.20384	0.029;0.013	T	0.35400	-0.9790	10	0.21014	T	0.42	.	5.4815	0.16727	0.1669:0.5761:0.0:0.257	.	1516;1634	O95613-2;O95613	.;PCNT_HUMAN	L	1634	ENSP00000352572:P1634L	ENSP00000352572:P1634L	P	+	2	0	PCNT	46646002	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.709000	0.05030	0.335000	0.23614	0.655000	0.94253	CCT	PCNT	-	NULL	ENSG00000160299		0.587	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	54	0.00	0	C	NM_006031		47821574	47821574	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	39	14.89	7	SNP	0.000	T
PIK3C3	5289	genome.wustl.edu	37	18	39613908	39613908	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr18:39613908C>A	ENST00000262039.4	+	16	1912	c.1826C>A	c.(1825-1827)gCt>gAt	p.A609D	PIK3C3_ENST00000398870.3_Missense_Mutation_p.A546D|PIK3C3_ENST00000593098.1_Missense_Mutation_p.A94D	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	609					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CCGGAAACAGCTACACTGTTT	0.343										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	dbGAP											0													87.0	86.0	86.0					18																	39613908		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1826C>A	18.37:g.39613908C>A	ENSP00000262039:p.Ala609Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.A609D	ENST00000262039.4	37	c.1826	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666693	0.88251	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.61	5.61	0.85477	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87830	0.6276	M	0.86028	2.79	0.80722	D	1	D;P	0.54397	0.966;0.911	P;P	0.51135	0.56;0.66	D	0.88671	0.3195	9	.	.	.	.	19.623	0.95667	0.0:1.0:0.0:0.0	.	546;609	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	D	609;546	ENSP00000262039:A609D;ENSP00000381845:A546D	.	A	+	2	0	PIK3C3	37867906	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	7.118000	0.77137	2.628000	0.89032	0.650000	0.86243	GCT	PIK3C3	-	superfamily_Kinase-like_dom,pirsf_PI3K_Vps34	ENSG00000078142		0.343	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	158	0.00	0	C	NM_002647		39613908	39613908	+1	no_errors	ENST00000262039	ensembl	human	known	69_37n	missense	93	20.51	24	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	108	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	53	32.50	26	SNP	1.000	A
REG1B	5968	genome.wustl.edu	37	2	79314722	79314722	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr2:79314722G>A	ENST00000305089.3	-	2	97	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	6					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CATGAAGAACGAGTTGGTCTG	0.493																																						dbGAP											0													145.0	121.0	129.0					2																	79314722		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.17C>T	2.37:g.79314722G>A	ENSP00000303206:p.Ser6Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac,pfscan_C-type_lectin	p.S6L	ENST00000305089.3	37	c.17	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	g	3.776	-0.046718	0.07407	.	.	ENSG00000172023	ENST00000305089	T	0.03889	3.77	2.71	0.642	0.17765	.	.	.	.	.	T	0.02304	0.0071	N	0.13043	0.29	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48843	-0.8999	9	0.12103	T	0.63	.	2.2303	0.03994	0.2064:0.0:0.497:0.2965	.	6;6	Q6ICS1;P48304	.;REG1B_HUMAN	L	6	ENSP00000303206:S6L	ENSP00000303206:S6L	S	-	2	0	REG1B	79168230	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.019000	0.13444	0.132000	0.18615	0.555000	0.69702	TCG	REG1B	-	NULL	ENSG00000172023		0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	196	0.00	0	G	NM_006507		79314722	79314722	-1	no_errors	ENST00000305089	ensembl	human	known	69_37n	missense	130	18.75	30	SNP	0.000	A
PRKAG3	53632	genome.wustl.edu	37	2	219688550	219688550	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr2:219688550A>G	ENST00000529249.1	-	13	1720	c.1405T>C	c.(1405-1407)Tcc>Ccc	p.S469P	PRKAG3_ENST00000545803.1_Missense_Mutation_p.S285P|PRKAG3_ENST00000439262.2_Missense_Mutation_p.S444P			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	469	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TCGGAGAGGGAGACCACGCCC	0.617																																						dbGAP											0													135.0	110.0	119.0					2																	219688550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1405T>C	2.37:g.219688550A>G	ENSP00000436068:p.Ser469Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.S469P	ENST00000529249.1	37	c.1405	CCDS2424.1	2	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433759	0.83776	.	.	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249	D;D;D	0.95307	-3.67;-3.67;-3.67	5.21	5.21	0.72293	Cystathionine beta-synthase, core (3);	0.054210	0.85682	D	0.000000	D	0.97757	0.9264	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98179	1.0456	10	0.87932	D	0	-18.6938	9.3003	0.37842	0.9146:0.0:0.0854:0.0	.	469	Q9UGI9	AAKG3_HUMAN	P	444;285;469	ENSP00000397133:S444P;ENSP00000444536:S285P;ENSP00000436068:S469P	ENSP00000233944:S469P	S	-	1	0	PRKAG3	219396794	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.929000	0.75852	1.959000	0.56917	0.459000	0.35465	TCC	PRKAG3	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	ENSG00000115592		0.617	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRKAG3	HGNC	protein_coding	OTTHUMT00000385992.1	46	0.00	0	A			219688550	219688550	-1	no_errors	ENST00000233944	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	1.000	G
RNFT2	84900	genome.wustl.edu	37	12	117178862	117178862	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr12:117178862C>T	ENST00000257575.4	+	3	279	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	RNFT2_ENST00000319176.7_Missense_Mutation_p.R16C|C12orf49_ENST00000261318.3_5'Flank|RNFT2_ENST00000407967.3_Missense_Mutation_p.R16C|C12orf49_ENST00000536380.1_5'Flank|RNFT2_ENST00000392549.2_Missense_Mutation_p.R16C			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	16						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GATGCAGAGACGCCACAGCAG	0.527																																						dbGAP											0													104.0	112.0	110.0					12																	117178862		2198	4296	6494	-	-	-	SO:0001583	missense	0			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.46C>T	12.37:g.117178862C>T	ENSP00000257575:p.Arg16Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAM7|Q96SU5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R16C	ENST00000257575.4	37	c.46	CCDS44987.1	12	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076676	0.55753	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549;ENST00000319176	T;T	0.61158	0.13;0.13	4.49	4.49	0.54785	.	.	.	.	.	T	0.68044	0.2958	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.70898	-0.4747	9	0.87932	D	0	-22.6945	13.3122	0.60386	0.1586:0.8414:0.0:0.0	.	16;16	Q96EX2;E9PAM7	RNFT2_HUMAN;.	C	16	ENSP00000257575:R16C;ENSP00000376332:R16C	ENSP00000257575:R16C	R	+	1	0	RNFT2	115663245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.994000	0.49433	2.347000	0.79759	0.555000	0.69702	CGC	RNFT2	-	NULL	ENSG00000135119		0.527	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	HGNC	protein_coding	OTTHUMT00000320417.1	223	0.00	0	C	NM_032814		117178862	117178862	+1	no_errors	ENST00000257575	ensembl	human	known	69_37n	missense	178	21.15	48	SNP	1.000	T
SCLT1	132320	genome.wustl.edu	37	4	129886386	129886386	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr4:129886386T>A	ENST00000281142.5	-	11	1368	c.865A>T	c.(865-867)Ata>Tta	p.I289L	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	289					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						ATTTACCTTATTTCTAATTGT	0.318																																						dbGAP											0													80.0	84.0	83.0					4																	129886386		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.865A>T	4.37:g.129886386T>A	ENSP00000281142:p.Ile289Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.I289L	ENST00000281142.5	37	c.865	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835655	0.50951	.	.	ENSG00000151466	ENST00000281142	T	0.09073	3.02	5.79	-0.524	0.11920	.	0.437579	0.26045	N	0.026669	T	0.02970	0.0088	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.08055	0.003	T	0.49588	-0.8924	9	.	.	.	.	4.49	0.11808	0.1602:0.2515:0.0:0.5883	.	289	Q96NL6	SCLT1_HUMAN	L	289	ENSP00000281142:I289L	.	I	-	1	0	SCLT1	130105836	1.000000	0.71417	0.918000	0.36340	0.966000	0.64601	1.221000	0.32503	-0.312000	0.08741	0.533000	0.62120	ATA	SCLT1	-	NULL	ENSG00000151466		0.318	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	159	0.00	0	T	NM_144643		129886386	129886386	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	112	12.50	16	SNP	0.993	A
SCN2A	6326	genome.wustl.edu	37	2	166201098	166201098	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr2:166201098A>C	ENST00000375437.2	+	16	2886	c.2596A>C	c.(2596-2598)Act>Cct	p.T866P	SCN2A_ENST00000283256.6_Missense_Mutation_p.T866P|SCN2A_ENST00000357398.3_Missense_Mutation_p.T866P|SCN2A_ENST00000375427.2_Missense_Mutation_p.T866P	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	866					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTTGGCCAACTCTAAATAT	0.383																																						dbGAP											0													54.0	55.0	55.0					2																	166201098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2596A>C	2.37:g.166201098A>C	ENSP00000364586:p.Thr866Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T866P	ENST00000375437.2	37	c.2596	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309559	0.81247	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.23	5.23	0.72850	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99306	0.9757	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98922	1.0784	10	0.87932	D	0	.	15.4265	0.75055	1.0:0.0:0.0:0.0	.	866;866	Q99250-2;Q99250	.;SCN2A_HUMAN	P	866	ENSP00000364586:T866P;ENSP00000349973:T866P;ENSP00000283256:T866P;ENSP00000364576:T866P	ENSP00000283256:T866P	T	+	1	0	SCN2A	165909344	1.000000	0.71417	0.222000	0.23844	0.978000	0.69477	9.161000	0.94739	2.105000	0.64084	0.528000	0.53228	ACT	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	126	0.00	0	A	NM_021007		166201098	166201098	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	97	19.01	23	SNP	0.998	C
SLC7A8	23428	genome.wustl.edu	37	14	23609769	23609769	+	Silent	SNP	G	G	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr14:23609769G>A	ENST00000316902.7	-	5	1424	c.699C>T	c.(697-699)ctC>ctT	p.L233L	SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Silent_p.L128L|SLC7A8_ENST00000453702.1_Silent_p.L30L|SLC7A8_ENST00000469263.1_Silent_p.L233L|SLC7A8_ENST00000422941.2_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	233					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCAGTGCGACGAGGCCGATGT	0.507																																						dbGAP											0													161.0	159.0	160.0					14																	23609769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.699C>T	14.37:g.23609769G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	pfam_AA-permease_dom	p.S112L	ENST00000316902.7	37	c.335	CCDS9590.1	14																																																																																			SLC7A8	-	pfam_AA-permease_dom	ENSG00000092068		0.507	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	HGNC	protein_coding	OTTHUMT00000071718.3	104	0.00	0	G			23609769	23609769	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000339733	ensembl	human	known	69_37n	missense	82	21.15	22	SNP	0.996	A
TCF12	6938	genome.wustl.edu	37	15	57554331	57554331	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr15:57554331A>C	ENST00000267811.5	+	16	1739	c.1435A>C	c.(1435-1437)Aat>Cat	p.N479H	TCF12_ENST00000452095.2_Missense_Mutation_p.N499H|TCF12_ENST00000557843.1_Missense_Mutation_p.N479H|TCF12_ENST00000438423.2_Missense_Mutation_p.N503H|TCF12_ENST00000333725.5_Missense_Mutation_p.N503H|TCF12_ENST00000543579.1_Missense_Mutation_p.N333H|TCF12_ENST00000343827.3_Missense_Mutation_p.N309H|TCF12_ENST00000537840.1_Missense_Mutation_p.N243H|TCF12_ENST00000559703.1_Missense_Mutation_p.N137H|TCF12_ENST00000559710.1_Missense_Mutation_p.N113H	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	479					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTCAATGGCAATCATTCAGT	0.358			T	TEC	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													87.0	83.0	84.0					15																	57554331		2192	4292	6484	-	-	-	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1435A>C	15.37:g.57554331A>C	ENSP00000267811:p.Asn479His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.N503H	ENST00000267811.5	37	c.1507	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	a	21.2	4.120202	0.77323	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.91	5.91	0.95273	.	0.188089	0.64402	D	0.000020	T	0.67515	0.2901	M	0.62723	1.935	0.30732	N	0.747068	P;P;D;P;D;D;D;P;B;B	0.71674	0.902;0.917;0.974;0.904;0.998;0.958;0.985;0.828;0.38;0.226	P;P;P;P;D;P;P;B;B;B	0.79784	0.646;0.451;0.646;0.707;0.993;0.66;0.807;0.371;0.085;0.176	T	0.71490	-0.4577	10	0.72032	D	0.01	-22.998	10.3829	0.44123	0.9269:0.0:0.0731:0.0	.	499;113;333;243;499;531;333;309;479;503	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	H	531;479;503;499;503;333;243;309;92	ENSP00000267811:N479H;ENSP00000388940:N503H;ENSP00000396881:N499H;ENSP00000331057:N503H;ENSP00000440017:N333H;ENSP00000444696:N243H;ENSP00000342459:N309H	ENSP00000267811:N479H	N	+	1	0	TCF12	55341623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.178000	0.71968	2.254000	0.74563	0.533000	0.62120	AAT	TCF12	-	NULL	ENSG00000140262		0.358	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	124	0.00	0	A	NM_003205		57554331	57554331	+1	no_errors	ENST00000438423	ensembl	human	known	69_37n	missense	76	23.23	23	SNP	1.000	C
TOX2	84969	genome.wustl.edu	37	20	42697311	42697311	+	Silent	SNP	G	G	A			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr20:42697311G>A	ENST00000358131.5	+	8	1660	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Silent_p.S502S|TOX2_ENST00000372999.1_Silent_p.S460S|TOX2_ENST00000423191.2_Silent_p.S460S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	484					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGGACAAATCGCTCTACCTCA	0.622																																						dbGAP											0													189.0	141.0	157.0					20																	42697311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1452G>A	20.37:g.42697311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	NULL	p.R109H	ENST00000358131.5	37	c.326	CCDS42875.1	20	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455620	0.43634	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.05	-3.89	0.04193	.	.	.	.	.	T	0.46600	0.1401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56884	-0.7905	5	0.87932	D	0	.	1.1426	0.01769	0.2796:0.1113:0.1594:0.4497	.	.	.	.	H	109	.	ENSP00000362083:R109H	R	+	2	0	TOX2	42130725	0.962000	0.33011	0.997000	0.53966	0.698000	0.40448	0.096000	0.15147	-0.076000	0.12775	-0.150000	0.13652	CGC	TOX2	-	NULL	ENSG00000124191		0.622	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	191	0.00	0	G			42697311	42697311	+1	no_start_codon	ENST00000413823	ensembl	human	known	69_37n	missense	147	21.69	41	SNP	0.979	A
TSNARE1	203062	genome.wustl.edu	37	8	143356158	143356158	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr8:143356158C>T	ENST00000307180.3	-	12	1547	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	TSNARE1_ENST00000524325.1_Missense_Mutation_p.G476E|TSNARE1_ENST00000519651.1_Missense_Mutation_p.G258E|TSNARE1_ENST00000520166.1_Missense_Mutation_p.G477E	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	477	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGGCTGGCTCCAGCCAGGAG	0.627																																						dbGAP											0													11.0	15.0	13.0					8																	143356158		2174	4264	6438	-	-	-	SO:0001583	missense	0					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1430G>A	8.37:g.143356158C>T	ENSP00000303437:p.Gly477Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLB0|Q14D03	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.G477E	ENST00000307180.3	37	c.1430	CCDS6384.1	8	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020426	0.19433	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.27890	2.85;2.84;2.84;1.64	2.4	1.48	0.22813	Target SNARE coiled-coil domain (3);	.	.	.	.	T	0.21387	0.0515	N	0.12611	0.24	0.25267	N	0.989544	D;P;D;D	0.55605	0.972;0.905;0.972;0.972	P;B;P;P	0.51701	0.677;0.375;0.677;0.677	T	0.07809	-1.0753	9	0.42905	T	0.14	.	3.6078	0.08049	0.0:0.6358:0.0:0.3641	.	476;258;477;478	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	E	476;477;477;258	ENSP00000428763:G476E;ENSP00000303437:G477E;ENSP00000427770:G477E;ENSP00000429679:G258E	ENSP00000303437:G477E	G	-	2	0	TSNARE1	143354065	0.054000	0.20591	0.919000	0.36401	0.129000	0.20672	0.571000	0.23669	1.272000	0.44329	0.462000	0.41574	GGA	TSNARE1	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000171045		0.627	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	HGNC	protein_coding		13	0.00	0	C	NM_145003		143356158	143356158	-1	no_errors	ENST00000307180	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.984	T
TTN	7273	genome.wustl.edu	37	2	179640414	179640414	+	Silent	SNP	G	G	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr2:179640414G>T	ENST00000591111.1	-	28	6401	c.6177C>A	c.(6175-6177)atC>atA	p.I2059I	TTN_ENST00000342175.6_Silent_p.I2013I|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.I2059I|TTN_ENST00000589042.1_Silent_p.I2059I|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.I2059I|TTN_ENST00000460472.2_Silent_p.I2013I|TTN_ENST00000359218.5_Silent_p.I2013I			Q8WZ42	TITIN_HUMAN	titin	12844					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAATCGTGATTTTGCCTT	0.428																																						dbGAP											0													153.0	155.0	154.0					2																	179640414		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6177C>A	2.37:g.179640414G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I2059	ENST00000591111.1	37	c.6177		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	224	0.00	0	G	NM_133378		179640414	179640414	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	169	13.78	27	SNP	1.000	T
UNC45B	146862	genome.wustl.edu	37	17	33496946	33496946	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr17:33496946C>T	ENST00000268876.5	+	11	1640	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	UNC45B_ENST00000591048.1_Intron|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000394570.2_Missense_Mutation_p.R515C|UNC45B_ENST00000433649.1_Missense_Mutation_p.R515C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	515					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAAACAGTGTCGCAAGTAAGG	0.582																																						dbGAP											0													84.0	74.0	78.0					17																	33496946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1543C>T	17.37:g.33496946C>T	ENSP00000268876:p.Arg515Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R515C	ENST00000268876.5	37	c.1543	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500165	0.85176	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.29655	1.56;3.51;1.56	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	T	0.66480	-0.5913	10	0.87932	D	0	-17.3745	12.8672	0.57946	0.1625:0.8374:0.0:0.0	.	515;515	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	C	515	ENSP00000378071:R515C;ENSP00000268876:R515C;ENSP00000412840:R515C	ENSP00000268876:R515C	R	+	1	0	UNC45B	30521059	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.046000	0.64226	2.769000	0.95229	0.655000	0.94253	CGC	UNC45B	-	superfamily_ARM-type_fold	ENSG00000141161		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	82	0.00	0	C	NM_173167		33496946	33496946	+1	no_errors	ENST00000268876	ensembl	human	known	69_37n	missense	68	11.54	9	SNP	1.000	T
VRTN	55237	genome.wustl.edu	37	14	74824516	74824516	+	Missense_Mutation	SNP	C	C	T	rs368643849		TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr14:74824516C>T	ENST00000256362.4	+	2	1271	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	344					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGAGATCTCCCGCTCAACCTA	0.652																																						dbGAP											0													49.0	52.0	51.0					14																	74824516		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1030C>T	14.37:g.74824516C>T	ENSP00000256362:p.Arg344Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.R344C	ENST00000256362.4	37	c.1030	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435008	0.43224	.	.	ENSG00000133980	ENST00000256362	T	0.56941	0.43	5.02	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.65005	-0.6273	10	0.87932	D	0	-13.6848	14.2089	0.65753	0.1589:0.8411:0.0:0.0	.	344	Q9H8Y1	VRTN_HUMAN	C	344	ENSP00000256362:R344C	ENSP00000256362:R344C	R	+	1	0	VRTN	73894269	0.999000	0.42202	1.000000	0.80357	0.250000	0.25880	4.232000	0.58645	2.602000	0.87976	0.561000	0.74099	CGC	VRTN	-	NULL	ENSG00000133980		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	26	0.00	0	C	NM_018228		74824516	74824516	+1	no_errors	ENST00000256362	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.989	T
WRN	7486	genome.wustl.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	In_Frame_Del	DEL	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E510in_frame_del	ENST00000298139.5	37	c.1517_1519	CCDS6082.1	8																																																																																			WRN	-	NULL	ENSG00000165392		0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	78	0.00	0	AAG			30945377	30945379	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	in_frame_del	37	19.57	9	DEL	0.904:0.908:0.988	-
ZNF791	163049	genome.wustl.edu	37	19	12734520	12734520	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr19:12734520G>T	ENST00000343325.4	+	2	172	c.10G>T	c.(10-12)Gtg>Ttg	p.V4L	ZNF791_ENST00000458122.3_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_Missense_Mutation_p.V4L|ZNF791_ENST00000540038.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	4	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCAGGACTCAGTGGCTTTTGA	0.438																																						dbGAP											0													133.0	133.0	133.0					19																	12734520		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.10G>T	19.37:g.12734520G>T	ENSP00000342974:p.Val4Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V4L	ENST00000343325.4	37	c.10	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910965	0.52439	.	.	ENSG00000173875	ENST00000446165;ENST00000343325;ENST00000393303	T;T	0.04862	3.54;3.54	1.06	1.06	0.20224	Krueppel-associated box (4);	.	.	.	.	T	0.06690	0.0171	L	0.56396	1.775	0.80722	D	1	P	0.35923	0.528	B	0.38562	0.276	T	0.35375	-0.9791	9	0.26408	T	0.33	.	3.3307	0.07083	0.278:0.0:0.722:0.0	.	4	Q3KP31	ZN791_HUMAN	L	4	ENSP00000412981:V4L;ENSP00000342974:V4L	ENSP00000342974:V4L	V	+	1	0	ZNF791	12595520	0.953000	0.32496	0.975000	0.42487	0.404000	0.30871	2.074000	0.41529	0.877000	0.35895	0.313000	0.20887	GTG	ZNF791	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000173875		0.438	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	219	0.00	0	G	NM_153358		12734520	12734520	+1	no_errors	ENST00000343325	ensembl	human	known	69_37n	missense	113	22.07	32	SNP	0.887	T
ZNF461	92283	genome.wustl.edu	37	19	37129666	37129666	+	Silent	SNP	G	G	A	rs561974097		TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr19:37129666G>A	ENST00000588268.1	-	6	1808	c.1581C>T	c.(1579-1581)tgC>tgT	p.C527C	ZNF461_ENST00000360357.4_Silent_p.C504C|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C400C(1)|p.C527C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACGCCTTCCCGCATTGATAAG	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18190	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	endometrium(2)											86.0	92.0	90.0					19																	37129666		2157	4273	6430	-	-	-	SO:0001819	synonymous_variant	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1581C>T	19.37:g.37129666G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C527	ENST00000588268.1	37	c.1581	CCDS54257.1	19																																																																																			ZNF461	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.433	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	200	0.00	0	G	NM_153257		37129666	37129666	-1	no_errors	ENST00000588268	ensembl	human	known	69_37n	silent	150	16.20	29	SNP	0.133	A
ZSCAN12	9753	genome.wustl.edu	37	6	28365880	28365880	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A04N-01A-11D-A10Y-09	TCGA-A2-A04N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	389dd52b-a7b7-46f0-83ae-308e485466a8	6bc7c00e-9bf1-4d08-b69e-a73942d9afd5	g.chr6:28365880C>G	ENST00000361028.1	-	2	448	c.303G>C	c.(301-303)gaG>gaC	p.E101D	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.E101D			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	101	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						AGGCCTGGAGCTCCTCAGGTA	0.572																																						dbGAP											0													82.0	70.0	73.0					6																	28365880		692	1591	2283	-	-	-	SO:0001583	missense	0			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.303G>C	6.37:g.28365880C>G	ENSP00000354305:p.Glu101Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E101D	ENST00000361028.1	37	c.303		6	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663437	0.67700	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.07567	3.18;3.18	3.34	2.46	0.29980	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34338	N	0.004048	T	0.07954	0.0199	L	0.58925	1.835	0.32414	N	0.5503	D;D	0.65815	0.995;0.995	P;P	0.61533	0.787;0.89	T	0.12319	-1.0552	10	0.29301	T	0.29	.	6.6054	0.22721	0.0:0.8649:0.0:0.1351	.	101;101	A8K187;O43309	.;ZSC12_HUMAN	D	101	ENSP00000354305:E101D;ENSP00000380039:E101D	ENSP00000354305:E101D	E	-	3	2	ZSCAN12	28473859	0.994000	0.37717	0.998000	0.56505	0.984000	0.73092	0.324000	0.19610	0.728000	0.32382	0.655000	0.94253	GAG	ZSCAN12	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000158691		0.572	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	233	0.43	1	C	NM_014724		28365880	28365880	-1	no_errors	ENST00000361028	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	1.000	G
