#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
ACRC	93953	genome.wustl.edu	37	X	70832732	70832732	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:70832732C>T	ENST00000373695.1	+	12	2513	c.1976C>T	c.(1975-1977)tCg>tTg	p.S659L	ACRC_ENST00000373696.3_Missense_Mutation_p.S659L			Q96QF7	ACRC_HUMAN	acidic repeat containing	659	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TACACCAAATCGTTGGACACC	0.512																																						dbGAP											0													84.0	66.0	72.0					X																	70832732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1976C>T	X.37:g.70832732C>T	ENSP00000362799:p.Ser659Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S659L	ENST00000373695.1	37	c.1976	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967439	0.74131	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.44482	0.92;0.92	4.32	3.42	0.39159	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.68366	0.2993	M	0.91140	3.18	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.73319	-0.4020	9	0.87932	D	0	.	10.3209	0.43764	0.1978:0.8022:0.0:0.0	.	659	Q96QF7	ACRC_HUMAN	L	659	ENSP00000362800:S659L;ENSP00000362799:S659L	ENSP00000362799:S659L	S	+	2	0	ACRC	70749457	0.999000	0.42202	0.011000	0.14972	0.015000	0.08874	4.193000	0.58385	0.910000	0.36722	0.513000	0.50165	TCG	ACRC	-	pfam_SprT-like_domain,smart_SprT-like_domain	ENSG00000147174		0.512	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	111	0.00	0	C			70832732	70832732	+1	no_errors	ENST00000373695	ensembl	human	known	69_37n	missense	79	20.79	21	SNP	0.987	T
ADCY4	196883	genome.wustl.edu	37	14	24788604	24788604	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr14:24788604G>C	ENST00000310677.4	-	23	2885	c.2772C>G	c.(2770-2772)atC>atG	p.I924M	ADCY4_ENST00000554068.2_Missense_Mutation_p.I924M|ADCY4_ENST00000418030.2_Missense_Mutation_p.I924M	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	924					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGATGGTCTTGATCTTCTCCA	0.532																																						dbGAP											0													181.0	145.0	157.0					14																	24788604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2772C>G	14.37:g.24788604G>C	ENSP00000312126:p.Ile924Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I924M	ENST00000310677.4	37	c.2772	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193634	0.58017	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.84660	-1.88;-1.88;-1.88	5.77	5.77	0.91146	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.49305	D	0.000154	D	0.94473	0.8221	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95319	0.8419	10	0.72032	D	0.01	.	12.4329	0.55583	0.0:0.0:0.8324:0.1676	.	924	Q8NFM4	ADCY4_HUMAN	M	924	ENSP00000312126:I924M;ENSP00000452250:I924M;ENSP00000393177:I924M	ENSP00000312126:I924M	I	-	3	3	ADCY4	23858444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.202000	0.32271	2.704000	0.92352	0.655000	0.94253	ATC	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000129467		0.532	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	174	0.00	0	G			24788604	24788604	-1	no_errors	ENST00000310677	ensembl	human	known	69_37n	missense	188	14.16	31	SNP	1.000	C
ADCY5	111	genome.wustl.edu	37	3	123038594	123038594	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr3:123038594C>T	ENST00000462833.1	-	10	3395	c.2183G>A	c.(2182-2184)aGc>aAc	p.S728N	ADCY5_ENST00000491190.1_Missense_Mutation_p.S361N|ADCY5_ENST00000309879.5_Missense_Mutation_p.S378N	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTATCAATGCTCCTGGCGTC	0.597																																						dbGAP											0													112.0	92.0	99.0					3																	123038594		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2183G>A	3.37:g.123038594C>T	ENSP00000419361:p.Ser728Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S728N	ENST00000462833.1	37	c.2183	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.235723	0.95240	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.92211	0.7530	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	D	0.91656	0.5338	10	0.40728	T	0.16	.	18.8095	0.92053	0.0:1.0:0.0:0.0	.	728;361	O95622;B3KWA8	ADCY5_HUMAN;.	N	728;361;378;287	ENSP00000419361:S728N;ENSP00000418537:S361N;ENSP00000308685:S378N;ENSP00000420082:S287N	ENSP00000308685:S378N	S	-	2	0	ADCY5	124521284	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.644000	0.83416	2.690000	0.91761	0.643000	0.83706	AGC	ADCY5	-	pfam_Adenylate_cyclase-like	ENSG00000173175		0.597	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	76	0.00	0	C	XM_171048		123038594	123038594	-1	no_errors	ENST00000462833	ensembl	human	known	69_37n	missense	29	48.21	27	SNP	1.000	T
AMPH	273	genome.wustl.edu	37	7	38431512	38431512	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr7:38431512G>A	ENST00000356264.2	-	19	1930	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	AMPH_ENST00000428293.2_Missense_Mutation_p.A530V|AMPH_ENST00000325590.5_Missense_Mutation_p.A530V|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	572					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGGAGGAGCCGCGTCCTCGGT	0.607																																						dbGAP											0													60.0	57.0	58.0					7																	38431512		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1715C>T	7.37:g.38431512G>A	ENSP00000348602:p.Ala572Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.A572V	ENST00000356264.2	37	c.1715	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343642	0.24339	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	T;T;T	0.58940	0.34;0.3;0.3	5.75	1.07	0.20283	.	1.183550	0.06025	N	0.651946	T	0.32406	0.0828	N	0.08118	0	0.09310	N	1	B;B;B	0.18863	0.001;0.002;0.031	B;B;B	0.11329	0.001;0.001;0.006	T	0.19647	-1.0299	10	0.13853	T	0.58	-0.0635	4.775	0.13175	0.5228:0.0:0.3306:0.1466	.	530;572;460	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	V	530;572;530;474	ENSP00000317441:A530V;ENSP00000348602:A572V;ENSP00000390734:A530V	ENSP00000317441:A530V	A	-	2	0	AMPH	38398037	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.285000	0.18883	0.281000	0.22233	-0.218000	0.12543	GCG	AMPH	-	NULL	ENSG00000078053		0.607	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	42	0.00	0	G	NM_001635		38431512	38431512	-1	no_errors	ENST00000356264	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	0.000	A
AVPR2	554	genome.wustl.edu	37	X	153171699	153171699	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:153171699C>T	ENST00000358927.2	+	3	948	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	AVPR2_ENST00000370049.1_Missense_Mutation_p.R247C|AVPR2_ENST00000337474.5_Missense_Mutation_p.R247C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	247			Missing (in XNDI). {ECO:0000269|PubMed:1303257}.|R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R247_G250delRRRG(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCCTGGGGGGCGCCGCAGGGG	0.652																																						dbGAP											2	Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)											64.0	61.0	62.0					X																	153171699		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.739C>T	X.37:g.153171699C>T	ENSP00000351805:p.Arg247Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn	p.R247C	ENST00000358927.2	37	c.739	CCDS14735.1	X	.	.	.	.	.	.	.	.	.	.	c	3.145	-0.175553	0.06421	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	3.99	-0.546	0.11840	GPCR, rhodopsin-like superfamily (1);	1.010110	0.07938	N	0.978640	T	0.31949	0.0813	L	0.53249	1.67	0.09310	N	1	B;B	0.17038	0.009;0.02	B;B	0.16289	0.013;0.015	T	0.40251	-0.9573	10	0.51188	T	0.08	-4.3936	0.3238	0.00307	0.3458:0.2587:0.1377:0.2578	.	247;247	P30518-2;P30518	.;V2R_HUMAN	C	247	ENSP00000351805:R247C;ENSP00000393513:R247C;ENSP00000338072:R247C;ENSP00000359066:R247C	ENSP00000338072:R247C	R	+	1	0	AVPR2	152824893	0.000000	0.05858	0.031000	0.17742	0.183000	0.23260	-0.097000	0.11042	0.127000	0.18452	0.263000	0.19301	CGC	AVPR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Vprsn_rcpt_V2	ENSG00000126895		0.652	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	82	0.00	0	C			153171699	153171699	+1	no_errors	ENST00000337474	ensembl	human	known	69_37n	missense	44	34.72	25	SNP	0.001	T
CC2D1A	54862	genome.wustl.edu	37	19	14031724	14031724	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr19:14031724G>C	ENST00000318003.7	+	14	1871	c.1630G>C	c.(1630-1632)Gac>Cac	p.D544H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.D544H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	544					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGCCTGTGGACATCACCAA	0.587																																						dbGAP											0													60.0	67.0	65.0					19																	14031724		2090	4209	6299	-	-	-	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1630G>C	19.37:g.14031724G>C	ENSP00000313601:p.Asp544His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.D544H	ENST00000318003.7	37	c.1630	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455561	0.43634	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.39997	1.05	5.55	4.51	0.55191	Domain of unknown function DM14 (1);	0.104422	0.64402	D	0.000006	T	0.67924	0.2945	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;0.999;1.0	T	0.74746	-0.3561	10	0.87932	D	0	-34.1829	14.7702	0.69671	0.0:0.0:0.8541:0.1458	.	166;544;544	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	H	544;167;298	ENSP00000313601:D544H	ENSP00000254346:D167H	D	+	1	0	CC2D1A	13892724	1.000000	0.71417	0.994000	0.49952	0.039000	0.13416	8.910000	0.92685	1.332000	0.45431	-0.310000	0.09108	GAC	CC2D1A	-	smart_DM14	ENSG00000132024		0.587	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	35	0.00	0	G	NM_017721		14031724	14031724	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	missense	29	18.92	7	SNP	1.000	C
CCDC60	160777	genome.wustl.edu	37	12	119937943	119937943	+	Silent	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr12:119937943G>A	ENST00000327554.2	+	6	1083	c.618G>A	c.(616-618)caG>caA	p.Q206Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	206										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCATGGGACAGAAATGGGAGC	0.473																																						dbGAP											0													99.0	100.0	99.0					12																	119937943		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.618G>A	12.37:g.119937943G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.Q206	ENST00000327554.2	37	c.618	CCDS9190.1	12																																																																																			CCDC60	-	NULL	ENSG00000183273		0.473	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	79	0.00	0	G	NM_178499		119937943	119937943	+1	no_errors	ENST00000327554	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	1.000	A
CDH20	28316	genome.wustl.edu	37	18	59221741	59221741	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr18:59221741C>T	ENST00000262717.4	+	12	2617	c.2219C>T	c.(2218-2220)cCg>cTg	p.P740L	CDH20_ENST00000536675.2_Missense_Mutation_p.P740L|CDH20_ENST00000538374.1_Missense_Mutation_p.P740L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	740					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTGTGGGCACCGCCCTTCGAC	0.647																																						dbGAP											0													37.0	30.0	33.0					18																	59221741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.2219C>T	18.37:g.59221741C>T	ENSP00000262717:p.Pro740Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P740L	ENST00000262717.4	37	c.2219	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.79352	-1.26;-1.26;-1.26	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87960	0.2729	10	0.66056	D	0.02	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	740	Q9HBT6	CAD20_HUMAN	L	740	ENSP00000444767:P740L;ENSP00000442226:P740L;ENSP00000262717:P740L	ENSP00000262717:P740L	P	+	2	0	CDH20	57372721	1.000000	0.71417	0.994000	0.49952	0.905000	0.53344	7.756000	0.85195	2.894000	0.99253	0.655000	0.94253	CCG	CDH20	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000101542		0.647	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	15	0.00	0	C	NM_031891		59221741	59221741	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
CDH9	1007	genome.wustl.edu	37	5	26881405	26881405	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr5:26881405G>A	ENST00000231021.4	-	12	2382	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAGGCATACGTTGCCAGCGA	0.423																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													144.0	135.0	138.0					5																	26881405		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2210C>T	5.37:g.26881405G>A	ENSP00000231021:p.Thr737Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T737M	ENST00000231021.4	37	c.2210	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514444	0.64522	.	.	ENSG00000113100	ENST00000231021	T	0.78595	-1.19	5.36	5.36	0.76844	Cadherin, cytoplasmic domain (1);	0.044682	0.85682	D	0.000000	D	0.91277	0.7250	M	0.94063	3.49	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.93378	0.6741	9	.	.	.	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	330;737	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	737	ENSP00000231021:T737M	.	T	-	2	0	CDH9	26917162	1.000000	0.71417	0.379000	0.26080	0.687000	0.40016	9.835000	0.99442	2.504000	0.84457	0.557000	0.71058	ACG	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	131	0.00	0	G	NM_016279		26881405	26881405	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	90	31.30	41	SNP	0.999	A
CIT	11113	genome.wustl.edu	37	12	120287989	120287989	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr12:120287989G>T	ENST00000261833.7	-	5	557	c.505C>A	c.(505-507)Cac>Aac	p.H169N	CIT_ENST00000392521.2_Missense_Mutation_p.H169N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGATAAAGGTGATTTTTGTCC	0.438																																						dbGAP											0													256.0	256.0	256.0					12																	120287989		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.505C>A	12.37:g.120287989G>T	ENSP00000261833:p.His169Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.H169N	ENST00000261833.7	37	c.505	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	G	1.081	-0.666963	0.03428	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	2.87	0.33458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.134805	0.48767	N	0.000167	T	0.33089	0.0851	N	0.04260	-0.245	0.29393	N	0.862515	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27502	-1.0072	10	0.02654	T	1	.	12.0449	0.53475	0.0:0.0:0.2869:0.7131	.	169;169	Q2M5E1;O14578	.;CTRO_HUMAN	N	169;169;86	ENSP00000376306:H169N;ENSP00000261833:H169N;ENSP00000443199:H86N	ENSP00000261833:H169N	H	-	1	0	CIT	118772372	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.153000	0.42282	0.312000	0.23038	-0.262000	0.10625	CAC	CIT	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000122966		0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	121	0.82	1	G	NM_007174		120287989	120287989	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	50	38.27	31	SNP	1.000	T
CNTLN	54875	genome.wustl.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-	rs552024453		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr9:17484353delA	ENST00000380647.3	+	24	4000	c.3916delA	c.(3916-3918)aaafs	p.K1307fs	CNTLN_ENST00000425824.1_Frame_Shift_Del_p.K1307fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.K1307fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1307					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.M1308fs*1(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGAGCTTAAAAAAATGAA	0.398																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											121.0	119.0	120.0					9																	17484353		1842	4086	5928	-	-	-	SO:0001589	frameshift_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3916delA	9.37:g.17484353delA	ENSP00000370021:p.Lys1307fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.M1308fs	ENST00000380647.3	37	c.3916	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.398	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	90	0.00	0	A	NM_017738		17484353	17484353	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	frame_shift_del	48	19.35	12	DEL	0.999	-
COL6A5	256076	genome.wustl.edu	37	3	130116894	130116894	+	Silent	SNP	C	C	T	rs188562094		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr3:130116894C>T	ENST00000432398.2	+	10	4424	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	COL6A5_ENST00000265379.6_Silent_p.D1310D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1310	Nonhelical region.|VWFA 7. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTTCAGACGGTCTCCAGA	0.343																																						dbGAP											0													145.0	123.0	130.0					3																	130116894		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3930C>T	3.37:g.130116894C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1310	ENST00000432398.2	37	c.3930		3																																																																																			COL6A5	-	NULL	ENSG00000172752		0.343	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		297	0.00	0	C	NM_153264		130116894	130116894	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	117	26.71	43	SNP	0.998	T
CRB1	23418	genome.wustl.edu	37	1	197326056	197326056	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:197326056C>A	ENST00000367400.3	+	5	1219	c.1084C>A	c.(1084-1086)Caa>Aaa	p.Q362K	CRB1_ENST00000543483.1_Missense_Mutation_p.Q61K|CRB1_ENST00000535699.1_Missense_Mutation_p.Q293K|CRB1_ENST00000538660.1_Missense_Mutation_p.Q362K|CRB1_ENST00000367399.2_Missense_Mutation_p.Q250K	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	362	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCAGAGAAACAATATGGACG	0.502																																						dbGAP											0			GRCh37	CM060946	CRB1	M							192.0	163.0	173.0					1																	197326056		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1084C>A	1.37:g.197326056C>A	ENSP00000356370:p.Gln362Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q362K	ENST00000367400.3	37	c.1084	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	7.627	0.678033	0.14841	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.86865	-1.83;-2.0;-1.68;-2.18;-2.11	5.19	4.27	0.50696	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.82972	0.5153	L	0.40543	1.245	0.80722	D	1	P;B;P;P;B	0.42692	0.775;0.452;0.787;0.525;0.356	B;B;B;B;B	0.43301	0.415;0.117;0.364;0.245;0.207	T	0.80473	-0.1367	9	0.29301	T	0.29	.	13.1406	0.59432	0.0:0.8297:0.1702:0.0	.	362;293;250;362;387	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	K	293;362;362;250;61	ENSP00000438786:Q293K;ENSP00000438091:Q362K;ENSP00000356370:Q362K;ENSP00000356369:Q250K;ENSP00000439579:Q61K	ENSP00000356369:Q250K	Q	+	1	0	CRB1	195592679	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	0.791000	0.26915	1.294000	0.44707	0.563000	0.77884	CAA	CRB1	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134376		0.502	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	157	0.00	0	C	NM_201253		197326056	197326056	+1	no_errors	ENST00000367400	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	0.070	A
CXorf57	55086	genome.wustl.edu	37	X	105855472	105855472	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:105855472G>A	ENST00000372548.4	+	1	271	c.162G>A	c.(160-162)atG>atA	p.M54I	CXorf57_ENST00000372544.2_Missense_Mutation_p.M54I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	54							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCAGATTATGGACTCACCTC	0.612																																						dbGAP											0													89.0	86.0	87.0					X																	105855472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.162G>A	X.37:g.105855472G>A	ENSP00000361628:p.Met54Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.M54I	ENST00000372548.4	37	c.162	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.082046	0.00371	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.78924	-1.22;-1.22	3.47	-6.93	0.01638	Nucleic acid-binding, OB-fold-like (1);	1.494610	0.03783	N	0.261608	T	0.44052	0.1275	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42275	-0.9461	10	0.20046	T	0.44	3.557	0.165	0.00107	0.3524:0.1841:0.1783:0.2852	.	54;54;54	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	54	ENSP00000361623:M54I;ENSP00000361628:M54I	ENSP00000361623:M54I	M	+	3	0	CXorf57	105742128	0.000000	0.05858	0.000000	0.03702	0.303000	0.27691	-3.978000	0.00321	-4.237000	0.00062	-0.253000	0.11424	ATG	CXorf57	-	superfamily_NA-bd_OB-fold-like	ENSG00000147231		0.612	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	77	0.00	0	G	NM_018015		105855472	105855472	+1	no_errors	ENST00000372548	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	0.000	A
DCDC1	341019	genome.wustl.edu	37	11	30926690	30926690	+	Missense_Mutation	SNP	C	C	A	rs142867047		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr11:30926690C>A	ENST00000597505.1	-	29	4125	c.4126G>T	c.(4126-4128)Gct>Tct	p.A1376S	DCDC1_ENST00000406071.2_Missense_Mutation_p.A111S|DCDC1_ENST00000339794.5_Missense_Mutation_p.A455S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTTTTCAGCCTTGTCACAC	0.373																																						dbGAP											0													86.0	79.0	81.0					11																	30926690		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4126G>T	11.37:g.30926690C>A	ENSP00000472625:p.Ala1376Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.A455S	ENST00000597505.1	37	c.1363		11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112042	0.56398	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.31	5.31	0.75309	.	0.000000	0.56097	D	0.000037	T	0.67392	0.2888	M	0.71581	2.175	0.26250	N	0.978737	D	0.76494	0.999	D	0.70227	0.968	T	0.63301	-0.6668	9	0.87932	D	0	-8.6665	15.8998	0.79365	0.0:1.0:0.0:0.0	.	455	Q6ZRR9	DCDC5_HUMAN	S	111;455	.	ENSP00000341700:A455S	A	-	1	0	DCDC5	30883266	0.998000	0.40836	0.990000	0.47175	0.095000	0.18619	3.847000	0.55895	2.474000	0.83562	0.655000	0.94253	GCT	DCDC5	-	NULL	ENSG00000170959		0.373	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	101	0.00	0	C	NM_181807		30926690	30926690	-1	no_errors	ENST00000339794	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.997	A
DIAPH3	81624	genome.wustl.edu	37	13	60348934	60348934	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr13:60348934C>T	ENST00000400324.4	-	26	3407	c.3187G>A	c.(3187-3189)Gat>Aat	p.D1063N	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D1017N|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D1052N|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D993N|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D1063N|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D1063N	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1063	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGCAGATTATCCATCACTCCT	0.478																																						dbGAP											0													86.0	88.0	88.0					13																	60348934		1966	4167	6133	-	-	-	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3187G>A	13.37:g.60348934C>T	ENSP00000383178:p.Asp1063Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.D1063N	ENST00000400324.4	37	c.3187	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.193623	0.94960	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214	D;D;D;D;D;D	0.87887	-2.29;-2.28;-2.26;-2.21;-2.18;-2.31	6.02	6.02	0.97574	DRF autoregulatory (1);Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.993	D	0.94415	0.7635	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	800;1063	Q9NSV4-1;Q9NSV4	.;DIAP3_HUMAN	N	1063;1063;1052;1017;993;1052;993;1017;1063;800	ENSP00000383178:D1063N;ENSP00000383184:D1063N;ENSP00000367141:D1052N;ENSP00000383173:D993N;ENSP00000383174:D1017N;ENSP00000267215:D1063N	ENSP00000267214:D800N	D	-	1	0	DIAPH3	59246935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.246000	0.78247	2.865000	0.98341	0.655000	0.94253	GAT	DIAPH3	-	pfam_Drf_DAD,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000139734		0.478	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	106	0.00	0	C	NM_001042517		60348934	60348934	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	missense	55	39.56	36	SNP	1.000	T
EP300	2033	genome.wustl.edu	37	22	41523564	41523564	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr22:41523564C>T	ENST00000263253.7	+	4	2199	c.980C>T	c.(979-981)gCa>gTa	p.A327V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	327					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTTCTGGAGCACATACAGCT	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													92.0	92.0	92.0					22																	41523564		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.980C>T	22.37:g.41523564C>T	ENSP00000263253:p.Ala327Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A327V	ENST00000263253.7	37	c.980	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.754914	0.96890	.	.	ENSG00000100393	ENST00000263253	D	0.86164	-2.08	6.02	6.02	0.97574	Zinc finger, TAZ-type (1);	0.000000	0.48286	D	0.000193	D	0.91040	0.7181	L	0.59436	1.845	0.48901	D	0.999724	D	0.62365	0.991	P	0.58130	0.833	D	0.87978	0.2741	10	0.28530	T	0.3	-8.3537	20.5373	0.99239	0.0:1.0:0.0:0.0	.	327	Q09472	EP300_HUMAN	V	327	ENSP00000263253:A327V	ENSP00000263253:A327V	A	+	2	0	EP300	39853510	0.998000	0.40836	0.998000	0.56505	0.991000	0.79684	4.696000	0.61774	2.857000	0.98124	0.650000	0.86243	GCA	EP300	-	superfamily_Znf_TAZ	ENSG00000100393		0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	50	0.00	0	C	NM_001429		41523564	41523564	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.998	T
FAM13A	10144	genome.wustl.edu	37	4	89671660	89671660	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr4:89671660G>A	ENST00000264344.5	-	15	2062	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	FAM13A_ENST00000508369.1_Missense_Mutation_p.R293W|FAM13A_ENST00000513837.1_Missense_Mutation_p.R265W|FAM13A_ENST00000503556.1_Missense_Mutation_p.R279W|FAM13A_ENST00000511976.1_Missense_Mutation_p.R205W|FAM13A_ENST00000395002.2_Missense_Mutation_p.R293W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	619					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						GCGTAGAACCGAGGAGAGAGC	0.572																																						dbGAP											0													113.0	111.0	112.0					4																	89671660		2203	4300	6503	-	-	-	SO:0001583	missense	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.1855C>T	4.37:g.89671660G>A	ENSP00000264344:p.Arg619Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R619W	ENST00000264344.5	37	c.1855	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079549	0.76528	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.64438	-0.1;1.19;0.52;0.67;0.52;0.54	5.5	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;0.999;1.0	T	0.81215	-0.1034	10	0.87932	D	0	.	14.2713	0.66154	0.0:0.0:0.7203:0.2797	.	265;298;205;619;293;279;293	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	W	293;619;279;205;293;265	ENSP00000378450:R293W;ENSP00000264344:R619W;ENSP00000427189:R279W;ENSP00000421914:R205W;ENSP00000421562:R293W;ENSP00000423252:R265W	ENSP00000264344:R619W	R	-	1	2	FAM13A	89890683	1.000000	0.71417	0.944000	0.38274	0.511000	0.34104	6.083000	0.71326	0.803000	0.34113	0.555000	0.69702	CGG	FAM13A	-	NULL	ENSG00000138640		0.572	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	101	0.00	0	G			89671660	89671660	-1	no_errors	ENST00000264344	ensembl	human	known	69_37n	missense	39	47.30	35	SNP	1.000	A
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	51	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	30	25.00	10	INS	0.033:0.036	GCA
FAM217B	63939	genome.wustl.edu	37	20	58519040	58519040	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr20:58519040G>T	ENST00000358293.3	+	5	457	c.42G>T	c.(40-42)aaG>aaT	p.K14N	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.K14N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	14																	AACATTCAAAGAATTCTTCAG	0.433																																						dbGAP											0													51.0	53.0	52.0					20																	58519040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.42G>T	20.37:g.58519040G>T	ENSP00000351040:p.Lys14Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.K14N	ENST00000358293.3	37	c.42	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	5.846	0.340311	0.11069	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.50001	0.76;0.76	5.46	0.16	0.14972	.	0.261997	0.30630	N	0.009206	T	0.49406	0.1555	M	0.61703	1.905	0.09310	N	1	D	0.63046	0.992	P	0.56648	0.803	T	0.44590	-0.9318	10	0.87932	D	0	-11.5134	1.8445	0.03156	0.2788:0.1258:0.4653:0.13	.	14	Q9NTX9	CT177_HUMAN	N	14	ENSP00000351040:K14N;ENSP00000354056:K14N	ENSP00000351040:K14N	K	+	3	2	C20orf177	57952435	0.959000	0.32827	0.000000	0.03702	0.014000	0.08584	1.561000	0.36342	-0.172000	0.10779	-0.773000	0.03387	AAG	FAM217B	-	NULL	ENSG00000196227		0.433	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	45	0.00	0	G	NM_022106		58519040	58519040	+1	no_errors	ENST00000358293	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.000	T
FAM83G	644815	genome.wustl.edu	37	17	18881643	18881643	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr17:18881643G>A	ENST00000388995.6	-	5	1559	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R446C|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R446C|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	446					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCTTGATGCGGTTCATCTGG	0.642																																						dbGAP											0													20.0	25.0	23.0					17																	18881643		2120	4232	6352	-	-	-	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1336C>T	17.37:g.18881643G>A	ENSP00000373647:p.Arg446Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.R446C	ENST00000388995.6	37	c.1336	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265483	0.80358	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.26067	1.76;1.76	5.72	5.72	0.89469	.	0.196863	0.43579	D	0.000546	T	0.51126	0.1656	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.49890	-0.8891	10	0.56958	D	0.05	-31.0398	14.7031	0.69168	0.0:0.0:0.8551:0.1449	.	446	A6ND36	FA83G_HUMAN	C	446	ENSP00000373647:R446C;ENSP00000343279:R446C	ENSP00000343279:R446C	R	-	1	0	FAM83G	18822368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.203000	0.65174	2.711000	0.92665	0.655000	0.94253	CGC	FAM83G	-	NULL	ENSG00000188522		0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	47	0.00	0	G			18881643	18881643	-1	no_errors	ENST00000345041	ensembl	human	known	69_37n	missense	10	60.00	15	SNP	1.000	A
GOLM1	51280	genome.wustl.edu	37	9	88694123	88694123	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr9:88694123C>T	ENST00000388712.3	-	2	281	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	GOLM1_ENST00000388711.3_Missense_Mutation_p.R38Q|GOLM1_ENST00000257504.6_5'Flank	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	38					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GTCCACGCTCCGGGAGCTCGC	0.502																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.113G>A	9.37:g.88694123C>T	ENSP00000373364:p.Arg38Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	NULL	p.R38Q	ENST00000388712.3	37	c.113	CCDS35054.1	9	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712965	0.89112	.	.	ENSG00000135052	ENST00000388712;ENST00000388711;ENST00000486130;ENST00000466178	T;T	0.42900	0.96;0.96	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.73962	2.25	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.68462	-0.5402	10	0.54805	T	0.06	.	18.4327	0.90632	0.0:1.0:0.0:0.0	.	38	Q8NBJ4	GOLM1_HUMAN	Q	38	ENSP00000373364:R38Q;ENSP00000373363:R38Q	ENSP00000373363:R38Q	R	-	2	0	GOLM1	87883943	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.667000	0.61561	2.451000	0.82905	0.555000	0.69702	CGG	GOLM1	-	NULL	ENSG00000135052		0.502	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	31	0.00	0	C	NM_177937		88694123	88694123	-1	no_errors	ENST00000388711	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	T
GRIN2B	2904	genome.wustl.edu	37	12	13768551	13768551	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr12:13768551C>A	ENST00000609686.1	-	6	1585	c.1376G>T	c.(1375-1377)gGg>gTg	p.G459V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	459					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AATACAGAACCCCTTGCAGCA	0.358																																						dbGAP											0													160.0	177.0	171.0					12																	13768551		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1376G>T	12.37:g.13768551C>A	ENSP00000477455:p.Gly459Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G459V	ENST00000609686.1	37	c.1376	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988819	0.93106	.	.	ENSG00000150086	ENST00000279593	D	0.97529	-4.42	6.03	6.03	0.97812	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98911	1.0780	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	459	Q13224	NMDE2_HUMAN	V	459	ENSP00000279593:G459V	ENSP00000279593:G459V	G	-	2	0	GRIN2B	13659818	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.813000	0.86123	2.854000	0.98071	0.655000	0.94253	GGG	GRIN2B	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000150086		0.358	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	103	0.00	0	C			13768551	13768551	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	61	49.21	62	SNP	1.000	A
HSD17B1	3292	genome.wustl.edu	37	17	40706477	40706477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr17:40706477delG	ENST00000585807.1	+	5	4314	c.594delG	c.(592-594)ttgfs	p.L198fs	HSD17B1_ENST00000225929.5_Frame_Shift_Del_p.L199fs|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	198					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	AGAAGGTGTTGGGCAGCCCAG	0.652																																						dbGAP											0													51.0	41.0	45.0					17																	40706477		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.594delG	17.37:g.40706477delG	ENSP00000466799:p.Leu198fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS1|Q2M2L8	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.G199fs	ENST00000585807.1	37	c.594	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH	ENSG00000108786		0.652	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1	29	0.00	0	G	NM_000413		40706477	40706477	+1	no_errors	ENST00000585807	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.239	-
HSPA1L	3305	genome.wustl.edu	37	6	31778018	31778018	+	Missense_Mutation	SNP	C	C	G	rs139052456		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr6:31778018C>G	ENST00000375654.4	-	2	1921	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E578Q	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	578					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAAGGAGCTCGTTGCATTTA	0.383																																						dbGAP											0													112.0	111.0	112.0					6																	31778018		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1732G>C	6.37:g.31778018C>G	ENSP00000364805:p.Glu578Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E578Q	ENST00000375654.4	37	c.1732	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635672	0.14322	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.19394	2.15;2.15	5.94	5.07	0.68467	.	0.000000	0.35179	N	0.003392	T	0.16428	0.0395	M	0.71581	2.175	0.54753	D	0.999987	B	0.22480	0.07	B	0.31191	0.125	T	0.02705	-1.1121	10	0.42905	T	0.14	-23.712	14.5292	0.67912	0.0:0.8391:0.1609:0.0	.	578	P34931	HS71L_HUMAN	Q	578;578;523	ENSP00000364805:E578Q;ENSP00000387691:E578Q	ENSP00000364804:E523Q	E	-	1	0	HSPA1L	31885997	0.999000	0.42202	0.181000	0.23098	0.003000	0.03518	3.976000	0.56867	1.479000	0.48272	0.591000	0.81541	GAG	HSPA1L	-	pfam_Hsp_70_fam	ENSG00000204390		0.383	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	71	0.00	0	C			31778018	31778018	-1	no_errors	ENST00000375654	ensembl	human	known	69_37n	missense	70	22.22	20	SNP	0.998	G
HSPH1	10808	genome.wustl.edu	37	13	31722195	31722195	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr13:31722195G>A	ENST00000320027.5	-	10	1623	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	HSPH1_ENST00000380406.5_Missense_Mutation_p.P386S|HSPH1_ENST00000445273.2_Missense_Mutation_p.P429S|HSPH1_ENST00000429785.2_Missense_Mutation_p.P246S|HSPH1_ENST00000380405.4_Missense_Mutation_p.P427S	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	427					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGAGAAAGGAGCAGCATGG	0.408																																						dbGAP											0													130.0	144.0	139.0					13																	31722195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1279C>T	13.37:g.31722195G>A	ENSP00000318687:p.Pro427Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P429S	ENST00000320027.5	37	c.1285	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.148605	0.94603	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	M	0.93939	3.475	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;0.995;1.0	T	0.81328	-0.0982	10	0.87932	D	0	-16.1975	20.1466	0.98079	0.0:0.0:1.0:0.0	.	246;386;429;427;427	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	S	427;427;386;429;246;478	ENSP00000318687:P427S;ENSP00000369768:P427S;ENSP00000369769:P386S;ENSP00000396090:P429S;ENSP00000388778:P246S	ENSP00000318687:P427S	P	-	1	0	HSPH1	30620195	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.400000	0.97290	2.779000	0.95612	0.591000	0.81541	CCT	HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.408	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	92	0.00	0	G			31722195	31722195	-1	no_errors	ENST00000445273	ensembl	human	known	69_37n	missense	47	32.86	23	SNP	1.000	A
ITGAX	3687	genome.wustl.edu	37	16	31391336	31391336	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr16:31391336G>A	ENST00000268296.4	+	26	3131	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	ITGAX_ENST00000562522.1_Missense_Mutation_p.A1004T	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1004					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGAGAAAATCGCACCCCCAGC	0.577																																						dbGAP											0													52.0	52.0	52.0					16																	31391336		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3010G>A	16.37:g.31391336G>A	ENSP00000268296:p.Ala1004Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.A1004T	ENST00000268296.4	37	c.3010	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449431	0.12223	.	.	ENSG00000140678	ENST00000268296	T	0.47177	0.85	4.1	-3.38	0.04883	Integrin alpha-2 (1);	.	.	.	.	T	0.24236	0.0587	L	0.43152	1.355	0.09310	N	1	P;B	0.40180	0.705;0.098	B;B	0.27500	0.08;0.016	T	0.23154	-1.0196	9	0.14656	T	0.56	.	3.1341	0.06434	0.3989:0.0:0.2922:0.3089	.	1004;189	P20702;Q8TES5	ITAX_HUMAN;.	T	1004	ENSP00000268296:A1004T	ENSP00000268296:A1004T	A	+	1	0	ITGAX	31298837	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.562000	0.23531	-0.781000	0.04548	0.313000	0.20887	GCA	ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	38	0.00	0	G	NM_000887		31391336	31391336	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.000	A
KCNB1	3745	genome.wustl.edu	37	20	47990860	47990860	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr20:47990860C>T	ENST00000371741.4	-	2	1403	c.1237G>A	c.(1237-1239)Gtc>Atc	p.V413I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	413					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AAGTTATTGACGATGATGGGG	0.507																																						dbGAP											0													78.0	78.0	78.0					20																	47990860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1237G>A	20.37:g.47990860C>T	ENSP00000360806:p.Val413Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.V413I	ENST00000371741.4	37	c.1237	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910860	0.72983	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97620	-4.46	6.07	6.07	0.98685	.	0.132027	0.49305	D	0.000146	D	0.98388	0.9464	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98623	1.0668	10	0.62326	D	0.03	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	413	Q14721	KCNB1_HUMAN	I	413;368	ENSP00000360806:V413I	ENSP00000360806:V413I	V	-	1	0	KCNB1	47424267	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GTC	KCNB1	-	pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9	ENSG00000158445		0.507	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	61	0.00	0	C	NM_004975		47990860	47990860	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37448786	37448786	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr4:37448786C>T	ENST00000309447.5	+	7	6024	c.5176C>T	c.(5176-5178)Cgg>Tgg	p.R1726W		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1726										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TTGTTATGAGCGGGTATGCTC	0.488																																						dbGAP											0													39.0	37.0	38.0					4																	37448786		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.5176C>T	4.37:g.37448786C>T	ENSP00000309501:p.Arg1726Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R1726W	ENST00000309447.5	37	c.5176	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	8.625	0.892282	0.17613	.	.	ENSG00000174145	ENST00000309447	D	0.82526	-1.62	5.96	3.13	0.36017	.	0.112978	0.37809	N	0.001936	T	0.78227	0.4250	N	0.19112	0.55	0.32674	N	0.516418	D	0.61697	0.99	P	0.50570	0.644	D	0.83731	0.0198	10	0.87932	D	0	.	14.1712	0.65510	0.6142:0.3858:0.0:0.0	.	1726	Q9ULI1	K1239_HUMAN	W	1726	ENSP00000309501:R1726W	ENSP00000309501:R1726W	R	+	1	2	KIAA1239	37125181	0.496000	0.26059	0.908000	0.35775	0.015000	0.08874	2.003000	0.40844	0.822000	0.34565	0.650000	0.86243	CGG	KIAA1239	-	NULL	ENSG00000174145		0.488	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	40	0.00	0	C			37448786	37448786	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.866	T
LCA5	167691	genome.wustl.edu	37	6	80198927	80198927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr6:80198927G>A	ENST00000392959.1	-	8	1716	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	LCA5_ENST00000467898.3_Nonsense_Mutation_p.Q369*|LCA5_ENST00000369846.4_Nonsense_Mutation_p.Q369*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	369					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTGAGATTGCAAGTCCTAT	0.348																																						dbGAP											0													105.0	99.0	101.0					6																	80198927		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1105C>T	6.37:g.80198927G>A	ENSP00000376686:p.Gln369*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P542|Q9BWX7	Nonsense_Mutation	SNP	NULL	p.Q369*	ENST00000392959.1	37	c.1105	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140382	0.77775	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	.	.	.	4.72	-0.462	0.12168	.	0.715131	0.14201	N	0.334701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.2956	1.7001	0.02870	0.1331:0.4078:0.1352:0.3239	.	.	.	.	X	369	.	ENSP00000358861:Q369X	Q	-	1	0	LCA5	80255646	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.182000	0.09726	-0.002000	0.14469	-0.147000	0.13772	CAA	LCA5	-	NULL	ENSG00000135338		0.348	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	230	0.00	0	G	NM_181714		80198927	80198927	-1	no_errors	ENST00000369846	ensembl	human	known	69_37n	nonsense	171	18.57	39	SNP	0.008	A
LRP1B	53353	genome.wustl.edu	37	2	141081533	141081533	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr2:141081533A>G	ENST00000389484.3	-	81	13414	c.12443T>C	c.(12442-12444)gTa>gCa	p.V4148A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4148					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAGTACTCTACTGAACCATG	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													66.0	74.0	71.0					2																	141081533		2203	4285	6488	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12443T>C	2.37:g.141081533A>G	ENSP00000374135:p.Val4148Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V4148A	ENST00000389484.3	37	c.12443	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.31|15.31	2.796684|2.796684	0.50208|0.50208	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91740|.	-2.9|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.171248|.	0.38272|.	N|.	0.001760|.	T|.	0.59622|.	0.2207|.	L|L	0.39514|0.39514	1.22|1.22	0.37032|0.37032	D|D	0.896721|0.896721	P|.	0.38195|.	0.622|.	B|.	0.30179|.	0.112|.	T|.	0.62632|.	-0.6813|.	10|.	0.13853|.	T|.	0.58|.	.|.	15.6612|15.6612	0.77188|0.77188	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4148|.	Q9NZR2|.	LRP1B_HUMAN|.	A|Q	4148;4086|380	ENSP00000374135:V4148A|.	ENSP00000374135:V4148A|.	V|X	-|-	2|1	0|0	LRP1B|LRP1B	140798003|140798003	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.044000|7.044000	0.76578|0.76578	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	GTA|TAG	LRP1B	-	superfamily_Growth_fac_rcpt	ENSG00000168702		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	80	0.00	0	A	NM_018557		141081533	141081533	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	1.000	G
LRRC1	55227	genome.wustl.edu	37	6	53784398	53784398	+	Silent	SNP	C	C	T	rs537954712		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr6:53784398C>T	ENST00000370888.1	+	12	1486	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	403						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CAGACACAGACTACACCACAG	0.458																																						dbGAP											0													127.0	119.0	122.0					6																	53784398		1932	4145	6077	-	-	-	SO:0001819	synonymous_variant	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1209C>T	6.37:g.53784398C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D403	ENST00000370888.1	37	c.1209	CCDS4953.2	6																																																																																			LRRC1	-	NULL	ENSG00000137269		0.458	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	134	0.00	0	C	NM_025168		53784398	53784398	+1	no_errors	ENST00000370888	ensembl	human	known	69_37n	silent	97	25.95	34	SNP	0.998	T
LUM	4060	genome.wustl.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	C	T	rs267603717		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr12:91502039C>T	ENST00000266718.4	-	2	1172	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	240					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.E240K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											159.0	149.0	152.0					12																	91502039		2203	4300	6503	-	-	-	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.718G>A	12.37:g.91502039C>T	ENSP00000266718:p.Glu240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E240K	ENST00000266718.4	37	c.718	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	C	6.330	0.429002	0.11987	.	.	ENSG00000139329	ENST00000266718	T	0.56444	0.46	5.57	4.65	0.58169	.	0.103471	0.64402	D	0.000005	T	0.16214	0.0390	N	0.01003	-1.06	0.42346	D	0.992353	B	0.09022	0.002	B	0.09377	0.004	T	0.37641	-0.9697	10	0.02654	T	1	-31.9346	5.1455	0.14983	0.0:0.6323:0.188:0.1797	.	240	P51884	LUM_HUMAN	K	240	ENSP00000266718:E240K	ENSP00000266718:E240K	E	-	1	0	LUM	90026170	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.455000	0.44988	2.614000	0.88457	0.557000	0.71058	GAA	LUM	-	pfam_Leu-rich_rpt	ENSG00000139329		0.388	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	165	0.00	0	C	NM_002345		91502039	91502039	-1	no_errors	ENST00000266718	ensembl	human	known	69_37n	missense	106	32.48	51	SNP	1.000	T
MARK1	4139	genome.wustl.edu	37	1	220791767	220791767	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:220791767C>T	ENST00000366917.4	+	8	934	c.668C>T	c.(667-669)gCt>gTt	p.A223V	MARK1_ENST00000402574.1_Missense_Mutation_p.A88V|MARK1_ENST00000366918.4_Missense_Mutation_p.A201V					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCACCCTATGCTGCTCCCGAG	0.428																																						dbGAP											0													74.0	76.0	75.0					1																	220791767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.668C>T	1.37:g.220791767C>T	ENSP00000355884:p.Ala223Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A223V	ENST00000366917.4	37	c.668	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874587	0.91664	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.24151	1.87;1.87;1.87	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054900	0.64402	D	0.000001	T	0.37999	0.1024	N	0.16201	0.385	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.988;0.808;0.997;0.999	T	0.40887	-0.9539	10	0.87932	D	0	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	223;88;223;201	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	V	88;201;223	ENSP00000386017:A88V;ENSP00000355885:A201V;ENSP00000355884:A223V	ENSP00000355884:A223V	A	+	2	0	MARK1	218858390	1.000000	0.71417	0.393000	0.26258	0.511000	0.34104	7.770000	0.85390	2.709000	0.92574	0.655000	0.94253	GCT	MARK1	-	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	ENSG00000116141		0.428	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	107	0.00	0	C			220791767	220791767	+1	no_errors	ENST00000366917	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	T
MTO1	25821	genome.wustl.edu	37	6	74171766	74171766	+	Silent	SNP	G	G	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr6:74171766G>T	ENST00000370300.4	+	1	279	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000415954.2_Silent_p.L63L|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000498286.1_Silent_p.L63L	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	63					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CTCGGACTCTGCTCCTCACTC	0.677																																						dbGAP											0													38.0	42.0	40.0					6																	74171766		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.189G>T	6.37:g.74171766G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.L63	ENST00000370300.4	37	c.189	CCDS4979.1	6																																																																																			MTO1	-	pfam_GIDA-rel,pfam_FAD_bind_dom,tigrfam_GidA	ENSG00000135297		0.677	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	13	0.00	0	G	NM_012123		74171766	74171766	+1	no_errors	ENST00000415954	ensembl	human	known	69_37n	silent	24	26.47	9	SNP	1.000	T
NHS	4810	genome.wustl.edu	37	X	17744275	17744275	+	Silent	SNP	G	G	C			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:17744275G>C	ENST00000380060.3	+	6	2324	c.1986G>C	c.(1984-1986)gtG>gtC	p.V662V	NHS_ENST00000398097.3_Silent_p.V506V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	683					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GTGTTTTCGTGACAGAGCAAT	0.512																																						dbGAP											0													164.0	152.0	156.0					X																	17744275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1986G>C	X.37:g.17744275G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.V662	ENST00000380060.3	37	c.1986	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.512	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	70	0.00	0	G	NM_198270		17744275	17744275	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	49	14.04	8	SNP	0.627	C
NPHP4	261734	genome.wustl.edu	37	1	5927909	5927909	+	Silent	SNP	C	C	G			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:5927909C>G	ENST00000378156.4	-	24	3628	c.3363G>C	c.(3361-3363)ctG>ctC	p.L1121L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1121					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCACAGTCAGGCAGAGCA	0.637																																						dbGAP											0													58.0	67.0	64.0					1																	5927909		2145	4244	6389	-	-	-	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3363G>C	1.37:g.5927909C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWC0	Silent	SNP	NULL	p.L1121	ENST00000378156.4	37	c.3363	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.637	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	36	0.00	0	C			5927909	5927909	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	silent	28	17.14	6	SNP	0.978	G
ONECUT3	390874	genome.wustl.edu	37	19	1754710	1754710	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr19:1754710G>A	ENST00000382349.4	+	1	2339	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y		NM_001080488.1	NP_001073957.1	O60422	ONEC3_HUMAN	one cut homeobox 3	350					endocrine pancreas development (GO:0031018)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)						Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGATCCTGTGTCGCTCTCAG	0.652																																						dbGAP											0													20.0	18.0	19.0					19																	1754710		2181	4261	6442	-	-	-	SO:0001583	missense	0			AC004755	CCDS45900.1	19p13.3	2012-03-09	2007-07-16			ENSG00000205922		"""Homeoboxes / CUT class"""	13399	protein-coding gene	gene with protein product		611294	"""one cut domain, family member 3"""			9915796	Standard	NM_001080488		Approved		uc010xgr.2	O60422		ENST00000382349.4:c.1049G>A	19.37:g.1754710G>A	ENSP00000371786:p.Cys350Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZM7	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.C350Y	ENST00000382349.4	37	c.1049	CCDS45900.1	19	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743445	0.69418	.	.	ENSG00000205922	ENST00000382349	D	0.86562	-2.14	3.41	2.36	0.29203	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.073734	0.56097	U	0.000040	D	0.91968	0.7456	M	0.80982	2.52	0.80722	D	1	P	0.51240	0.943	D	0.68943	0.961	D	0.90678	0.4603	10	0.72032	D	0.01	.	9.2282	0.37421	0.1134:0.0:0.8866:0.0	.	350	O60422	ONEC3_HUMAN	Y	350	ENSP00000371786:C350Y	ENSP00000371786:C350Y	C	+	2	0	ONECUT3	1705710	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.256000	0.72473	0.412000	0.25729	0.448000	0.29417	TGT	ONECUT3	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000205922		0.652	ONECUT3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ONECUT3	HGNC	protein_coding	OTTHUMT00000418499.1	22	0.00	0	G			1754710	1754710	+1	no_errors	ENST00000382349	ensembl	human	known	69_37n	missense	5	68.75	11	SNP	1.000	A
PPM1E	22843	genome.wustl.edu	37	17	56833490	56833491	+	Missense_Mutation	DNP	GT	GT	AC	rs58091258|rs59676153	byFrequency	TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G|T	G|T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr17:56833490_56833491GT>AC	ENST00000308249.2	+	1	261_262	c.132_133GT>AC	c.(130-135)gaGTcc>gaACcc	p.S45P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ccgaacccgagtccgagcccga	0.703																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		Exception_encountered	17.37:g.56833490_56833491delinsAC	ENSP00000312411:p.Ser45Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8J9|Q96DB8	Silent|Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E44|p.S45P	ENST00000308249.2	37	c.132|c.133	CCDS11613.1	17																																																																																			PPM1E	-	NULL	ENSG00000175175		0.703	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	21|22	0.00	0	G|T	NM_014906		56833490|56833491	56833490|56833491	+1	no_errors	ENST00000308249	ensembl	human	known	69_37n	silent|missense	13	27.78	5	SNP	0.898|0.787	A|C
PTPN21	11099	genome.wustl.edu	37	14	88962792	88962792	+	Silent	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr14:88962792C>T	ENST00000556564.1	-	10	1181	c.897G>A	c.(895-897)gcG>gcA	p.A299A	PTPN21_ENST00000328736.3_Silent_p.A299A|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	299	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTTGTGTCGCGCAACACAGA	0.343																																						dbGAP											0													133.0	117.0	122.0					14																	88962792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.897G>A	14.37:g.88962792C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.A299	ENST00000556564.1	37	c.897	CCDS9884.1	14																																																																																			PTPN21	-	pfam_FERM_PH-like_C,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain	ENSG00000070778		0.343	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	80	0.00	0	C			88962792	88962792	-1	no_errors	ENST00000328736	ensembl	human	known	69_37n	silent	42	15.69	8	SNP	0.121	T
RBM12	10137	genome.wustl.edu	37	20	34242060	34242060	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr20:34242060C>T	ENST00000374114.3	-	3	1448	c.1185G>A	c.(1183-1185)atG>atA	p.M395I	CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.M395I|RBM12_ENST00000359646.1_Missense_Mutation_p.M395I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	395						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGAAGGTCCCATATTTTGCT	0.488											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													148.0	143.0	145.0					20																	34242060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1185G>A	20.37:g.34242060C>T	ENSP00000363228:p.Met395Ile	Somatic	846	WXS	Illumina GAIIx	Phase_IV	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M395I	ENST00000374114.3	37	c.1185	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	C	2.242	-0.373553	0.05034	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.14022	2.54;2.54;2.54	4.77	0.439	0.16567	.	0.558134	0.18494	N	0.139551	T	0.05868	0.0153	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38067	-0.9678	10	0.05620	T	0.96	0.3122	0.9641	0.01402	0.1595:0.3999:0.1563:0.2842	.	395	Q9NTZ6	RBM12_HUMAN	I	395;395;395;194	ENSP00000363228:M395I;ENSP00000352668:M395I;ENSP00000363217:M395I	ENSP00000339879:M194I	M	-	3	0	RBM12	33705474	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	1.337000	0.33862	-0.058000	0.13177	-0.310000	0.09108	ATG	RBM12	-	NULL	ENSG00000244462		0.488	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	110	0.00	0	C	NM_006047		34242060	34242060	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	0.999	T
RCAN3	11123	genome.wustl.edu	37	1	24857756	24857756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:24857756C>T	ENST00000374395.4	+	3	557	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	RCAN3_ENST00000436717.2_Nonsense_Mutation_p.Q82*|RCAN3_ENST00000412742.2_Nonsense_Mutation_p.Q82*|RCAN3_ENST00000538532.1_Intron|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000374393.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	82					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGTTACTTTTCAGCTGTTTAA	0.413																																						dbGAP											0													70.0	74.0	72.0					1																	24857756		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.244C>T	1.37:g.24857756C>T	ENSP00000363516:p.Gln82*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Nonsense_Mutation	SNP	pfam_Calcipressin	p.Q82*	ENST00000374395.4	37	c.244	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.315413	0.95655	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.4493	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	82	.	ENSP00000363516:Q82X	Q	+	1	0	RCAN3	24730343	1.000000	0.71417	0.909000	0.35828	0.834000	0.47266	7.294000	0.78760	2.835000	0.97688	0.650000	0.86243	CAG	RCAN3	-	pfam_Calcipressin	ENSG00000117602		0.413	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	64	0.00	0	C			24857756	24857756	+1	no_errors	ENST00000374395	ensembl	human	known	69_37n	nonsense	47	52.04	51	SNP	1.000	T
RHO	6010	genome.wustl.edu	37	3	129251571	129251571	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr3:129251571G>A	ENST00000296271.3	+	4	986	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	298					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGCCAAGAGCGCCGCCATCTA	0.602																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	dbGAP											0													132.0	121.0	125.0					3																	129251571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.892G>A	3.37:g.129251571G>A	ENSP00000296271:p.Ala298Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16414|Q2M249	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Rhodopsin,prints_7TM_GPCR_Rhodpsn,prints_Opsin,pfscan_GPCR_Rhodpsn_supfam	p.A298T	ENST00000296271.3	37	c.892	CCDS3063.1	3	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388603	0.42308	.	.	ENSG00000163914	ENST00000296271	T	0.36157	1.27	5.51	0.28	0.15682	GPCR, rhodopsin-like superfamily (1);	0.214788	0.49916	D	0.000123	T	0.40448	0.1117	M	0.80422	2.495	0.19300	N	0.999974	B	0.30763	0.294	B	0.28709	0.093	T	0.45920	-0.9228	10	0.87932	D	0	.	15.0785	0.72096	0.0:0.0:0.5221:0.4779	.	298	P08100	OPSD_HUMAN	T	298	ENSP00000296271:A298T	ENSP00000296271:A298T	A	+	1	0	RHO	130734261	0.012000	0.17670	0.001000	0.08648	0.740000	0.42216	0.035000	0.13797	-0.176000	0.10707	0.561000	0.74099	GCC	RHO	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000163914		0.602	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	HGNC	protein_coding	OTTHUMT00000356101.1	117	0.00	0	G	NM_000539		129251571	129251571	+1	no_errors	ENST00000296271	ensembl	human	known	69_37n	missense	69	16.67	14	SNP	0.150	A
RTL1	388015	genome.wustl.edu	37	14	101349520	101349520	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr14:101349520G>A	ENST00000534062.1	-	1	1664	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	536					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGGGCGGGCGGAAGCAGTTC	0.632																																						dbGAP											0													22.0	26.0	25.0					14																	101349520		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1606C>T	14.37:g.101349520G>A	ENSP00000435342:p.Arg536Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.R536C	ENST00000534062.1	37	c.1606	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944549	0.53079	.	.	ENSG00000254656	ENST00000534062	T	0.24538	1.85	3.95	2.01	0.26516	.	0.251147	0.21088	N	0.080372	T	0.26593	0.0650	M	0.62723	1.935	0.24266	N	0.995261	D	0.63880	0.993	B	0.44315	0.446	T	0.12553	-1.0543	10	0.54805	T	0.06	.	8.7109	0.34382	0.0:0.0:0.5679:0.4321	.	536	E9PKS8	.	C	536	ENSP00000435342:R536C	ENSP00000435342:R536C	R	-	1	0	RTL1	100419273	0.994000	0.37717	0.996000	0.52242	0.861000	0.49209	0.188000	0.17018	0.559000	0.29153	0.655000	0.94253	CGC	RTL1	-	NULL	ENSG00000254656		0.632	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	51	0.00	0	G	NM_001134888		101349520	101349520	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	0.988	A
SCMH1	22955	genome.wustl.edu	37	1	41512122	41512122	+	Silent	SNP	G	G	C			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:41512122G>C	ENST00000326197.7	-	11	1724	c.1425C>G	c.(1423-1425)ctC>ctG	p.L475L	SCMH1_ENST00000397174.2_Silent_p.L455L|SCMH1_ENST00000402904.2_Silent_p.L475L|SCMH1_ENST00000372597.1_Silent_p.L428L|SCMH1_ENST00000372595.1_Silent_p.L414L|SCMH1_ENST00000361705.3_Silent_p.L428L|SCMH1_ENST00000397171.2_Silent_p.L414L|SCMH1_ENST00000456518.2_Silent_p.L317L|SCMH1_ENST00000361191.5_Silent_p.L414L|SCMH1_ENST00000337495.5_Silent_p.L485L|SCMH1_ENST00000372596.1_Silent_p.L414L					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTATGGCAGTGAGTGACAAGT	0.572																																						dbGAP											0													136.0	111.0	120.0					1																	41512122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1425C>G	1.37:g.41512122G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.L475	ENST00000326197.7	37	c.1425	CCDS30688.1	1																																																																																			SCMH1	-	NULL	ENSG00000010803		0.572	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	89	0.00	0	G			41512122	41512122	-1	no_errors	ENST00000326197	ensembl	human	known	69_37n	silent	80	22.33	23	SNP	0.388	C
SF3A1	10291	genome.wustl.edu	37	22	30733776	30733776	+	Silent	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr22:30733776C>T	ENST00000215793.8	-	12	2008	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	SF3A1_ENST00000439242.1_Silent_p.P553P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	618					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGATGATGGGCGGCATGGGGG	0.652																																						dbGAP											0													32.0	37.0	35.0					22																	30733776		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1854G>A	22.37:g.30733776C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAW1	Silent	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.P618	ENST00000215793.8	37	c.1854	CCDS13875.1	22																																																																																			SF3A1	-	NULL	ENSG00000099995		0.652	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	38	0.00	0	C	NM_005877		30733776	30733776	-1	no_errors	ENST00000215793	ensembl	human	known	69_37n	silent	23	34.29	12	SNP	0.043	T
ST3GAL3	6487	genome.wustl.edu	37	1	44363942	44363942	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:44363942G>C	ENST00000361392.4	+	7	610	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ST3GAL3_ENST00000335430.6_Missense_Mutation_p.E129Q|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.E160Q|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.E145Q|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.E144Q|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.E145Q|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.E145Q|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.E129Q|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E199Q|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E199Q|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E183Q|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.E129Q|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.E114Q|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.E114Q|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.E129Q|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E183Q|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.E144Q|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E214Q|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.E214Q|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.E145Q	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	145					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AGTCACCAAAGAGTACCGCCT	0.527																																						dbGAP											0													121.0	104.0	110.0					1																	44363942		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.433G>C	1.37:g.44363942G>C	ENSP00000355341:p.Glu145Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E214Q	ENST00000361392.4	37	c.640	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429620	0.43122	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.57	3.64	0.41730	.	0.289804	0.38111	N	0.001815	T	0.39172	0.1068	L	0.37850	1.14	0.80722	D	1	B;P;P;P;P;P;B;P;B;B;B;B;B;B	0.50272	0.27;0.813;0.933;0.908;0.682;0.911;0.404;0.572;0.082;0.404;0.317;0.316;0.317;0.452	B;B;P;D;B;P;B;B;B;B;B;B;B;P	0.64144	0.302;0.371;0.542;0.922;0.371;0.628;0.302;0.438;0.096;0.302;0.138;0.428;0.138;0.497	T	0.07986	-1.0744	10	0.09338	T	0.73	.	14.5167	0.67824	0.0:0.148:0.852:0.0	.	145;98;129;144;129;144;114;145;183;129;199;145;214;160	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	Q	145;129;214;199;183;114;145;129;160;145;214;144;144;145;199;183;129;129;145;114	ENSP00000355341:E145Q;ENSP00000354748:E129Q;ENSP00000262915:E214Q;ENSP00000361450:E199Q;ENSP00000316999:E183Q;ENSP00000361449:E114Q;ENSP00000330463:E145Q;ENSP00000335633:E129Q;ENSP00000317192:E160Q;ENSP00000361444:E145Q;ENSP00000354657:E214Q;ENSP00000361442:E144Q;ENSP00000361441:E144Q;ENSP00000361440:E145Q;ENSP00000361443:E199Q;ENSP00000361447:E183Q;ENSP00000434876:E129Q;ENSP00000432682:E129Q;ENSP00000432965:E145Q;ENSP00000329755:E114Q	ENSP00000262915:E214Q	E	+	1	0	ST3GAL3	44136529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.240000	0.51368	1.029000	0.39812	0.655000	0.94253	GAG	ST3GAL3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000126091		0.527	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1	83	0.00	0	G	NM_174963		44363942	44363942	+1	no_errors	ENST00000262915	ensembl	human	known	69_37n	missense	81	18.81	19	SNP	1.000	C
SUGP1	57794	genome.wustl.edu	37	19	19407828	19407828	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr19:19407828C>A	ENST00000247001.5	-	8	1560	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y	SUGP1_ENST00000585763.1_5'Flank	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	405					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCATCCACGTCCCTCTGCACC	0.597																																						dbGAP											0													31.0	27.0	29.0					19																	19407828		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1213G>T	19.37:g.19407828C>A	ENSP00000247001:p.Asp405Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.D405Y	ENST00000247001.5	37	c.1213	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	C	10.19	1.280837	0.23392	.	.	ENSG00000105705	ENST00000247001	T	0.23552	1.9	3.66	3.66	0.41972	.	0.686095	0.14491	N	0.316314	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	P	0.34780	0.468	B	0.30646	0.118	T	0.10474	-1.0628	10	0.05620	T	0.96	.	8.664	0.34110	0.2274:0.7726:0.0:0.0	.	405	Q8IWZ8	SUGP1_HUMAN	Y	405	ENSP00000247001:D405Y	ENSP00000247001:D405Y	D	-	1	0	SUGP1	19268828	0.970000	0.33590	0.973000	0.42090	0.735000	0.41995	3.546000	0.53656	2.069000	0.61940	0.491000	0.48974	GAC	SUGP1	-	NULL	ENSG00000105705		0.597	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	25	0.00	0	C	NM_021164		19407828	19407828	-1	no_errors	ENST00000247001	ensembl	human	known	69_37n	missense	10	50.00	10	SNP	0.974	A
TBX22	50945	genome.wustl.edu	37	X	79278719	79278719	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:79278719G>T	ENST00000373294.5	+	2	364	c.336G>T	c.(334-336)atG>atT	p.M112I	TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.M112I	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	112					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGACTGAGATGATCATTACTA	0.463																																						dbGAP											0													71.0	65.0	67.0					X																	79278719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.336G>T	X.37:g.79278719G>T	ENSP00000362390:p.Met112Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.M112I	ENST00000373294.5	37	c.336	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695855	0.88830	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.91464	-2.85;-2.85	4.92	4.92	0.64577	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97659	1.0159	10	0.87932	D	0	.	15.7562	0.78030	0.0:0.0:1.0:0.0	.	112	Q9Y458	TBX22_HUMAN	I	112	ENSP00000362393:M112I;ENSP00000362390:M112I	ENSP00000362390:M112I	M	+	3	0	TBX22	79165375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.544000	0.90654	2.020000	0.59435	0.600000	0.82982	ATG	TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	ENSG00000122145		0.463	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	71	0.00	0	G	NM_016954		79278719	79278719	+1	no_errors	ENST00000373294	ensembl	human	known	69_37n	missense	47	29.85	20	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	138208561	138208561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr2:138208561C>T	ENST00000409968.1	+	15	3284	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R1036*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R1005*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1036	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAATGGAGGACGACCATGTCC	0.383																																						dbGAP											0													69.0	64.0	66.0					2																	138208561		1871	4100	5971	-	-	-	SO:0001587	stop_gained	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3106C>T	2.37:g.138208561C>T	ENSP00000387145:p.Arg1036*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1036*	ENST00000409968.1	37	c.3106		2	.	.	.	.	.	.	.	.	.	.	C	44	10.685284	0.99450	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	1036;1036;1005	.	ENSP00000272643:R1036X	R	+	1	2	THSD7B	137925031	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	2.508000	0.45450	2.780000	0.95670	0.655000	0.94253	CGA	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.383	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	95	0.00	0	C	XM_046570.9		138208561	138208561	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	nonsense	82	10.87	10	SNP	1.000	T
TMCO3	55002	genome.wustl.edu	37	13	114150035	114150035	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr13:114150035C>T	ENST00000434316.2	+	2	498	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TMCO3_ENST00000375391.1_Missense_Mutation_p.R47W|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	47						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CATGCAGAGCCGGCAGTGGGT	0.617																																						dbGAP											0													34.0	34.0	34.0					13																	114150035		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.139C>T	13.37:g.114150035C>T	ENSP00000389399:p.Arg47Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.R47W	ENST00000434316.2	37	c.139	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668089	0.29604	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.32515	1.45	5.24	1.22	0.21188	.	0.759134	0.12949	N	0.425952	T	0.37156	0.0993	L	0.36672	1.1	0.09310	N	1	D;D	0.61697	0.983;0.99	B;P	0.55345	0.405;0.774	T	0.31475	-0.9942	10	0.87932	D	0	-19.538	12.6785	0.56908	0.5822:0.4178:0.0:0.0	.	47;47	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	W	47	ENSP00000389399:R47W	ENSP00000364540:R47W	R	+	1	2	TMCO3	113198036	0.223000	0.23663	0.000000	0.03702	0.017000	0.09413	1.731000	0.38135	-0.003000	0.14444	-0.410000	0.06199	CGG	TMCO3	-	NULL	ENSG00000150403		0.617	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	42	0.00	0	C	NM_017905		114150035	114150035	+1	no_errors	ENST00000434316	ensembl	human	known	69_37n	missense	15	50.00	15	SNP	0.016	T
TP53	7157	genome.wustl.edu	37	17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATGTGCTGTGACTGCTTG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	GRCh37	CM942118	TP53	M							54.0	54.0	54.0					17																	7578431		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q167*	ENST00000269305.4	37	c.499	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	50	0.00	0	G	NM_000546		7578431	7578431	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	6	72.73	16	SNP	0.998	A
TRIOBP	11078	genome.wustl.edu	37	22	38130806	38130806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr22:38130806delG	ENST00000406386.3	+	9	4718	c.4463delG	c.(4462-4464)tggfs	p.W1488fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1488					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AAGGAGAGCTGGGGGCAGCCA	0.672																																						dbGAP											0													14.0	17.0	16.0					22																	38130806		1855	4055	5910	-	-	-	SO:0001589	frameshift_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4463delG	22.37:g.38130806delG	ENSP00000384312:p.Trp1488fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q1490fs	ENST00000406386.3	37	c.4463	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.672	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	12	0.00	0	G			38130806	38130806	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.191	-
TRPC6	7225	genome.wustl.edu	37	11	101359736	101359736	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr11:101359736C>T	ENST00000344327.3	-	4	1649	c.1225G>A	c.(1225-1227)Gtg>Atg	p.V409M	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.V409M|TRPC6_ENST00000360497.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	409					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCAAGGACCACAAGGAACTTG	0.468																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											0													92.0	86.0	88.0					11																	101359736		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1225G>A	11.37:g.101359736C>T	ENSP00000340913:p.Val409Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.V409M	ENST00000344327.3	37	c.1225	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770120	0.49680	.	.	ENSG00000137672	ENST00000344327;ENST00000532133	T;T	0.69306	-0.39;-0.39	5.77	5.77	0.91146	.	0.057396	0.64402	D	0.000002	T	0.76162	0.3949	L	0.52364	1.645	0.80722	D	1	D	0.62365	0.991	P	0.59546	0.859	T	0.72421	-0.4299	10	0.35671	T	0.21	-8.013	19.9928	0.97374	0.0:1.0:0.0:0.0	.	409	Q9Y210	TRPC6_HUMAN	M	409	ENSP00000340913:V409M;ENSP00000435574:V409M	ENSP00000340913:V409M	V	-	1	0	TRPC6	100864946	1.000000	0.71417	0.990000	0.47175	0.823000	0.46562	4.182000	0.58310	2.745000	0.94114	0.650000	0.86243	GTG	TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.468	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	56	0.00	0	C	NM_004621		101359736	101359736	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31334372	31334372	+	Silent	SNP	G	G	A	rs569549766		TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr15:31334372G>A	ENST00000256552.6	-	17	2016	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D	TRPM1_ENST00000397795.2_Silent_p.D601D|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.D640D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGGCAGGGTCGTCCACATCAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21299	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													65.0	71.0	69.0					15																	31334372		2149	4269	6418	-	-	-	SO:0001819	synonymous_variant	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1869C>T	15.37:g.31334372G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_dom	p.D640	ENST00000256552.6	37	c.1920	CCDS58346.1	15																																																																																			TRPM1	-	NULL	ENSG00000134160		0.502	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	72	0.00	0	G	NM_002420		31334372	31334372	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	silent	35	14.63	6	SNP	0.903	A
TUBB6	84617	genome.wustl.edu	37	18	12325960	12325960	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr18:12325960G>A	ENST00000317702.5	+	4	1406	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	391					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ATGTTCCGGCGCAAGGCCTTC	0.602																																						dbGAP											0													157.0	146.0	150.0					18																	12325960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.1172G>A	18.37:g.12325960G>A	ENSP00000318697:p.Arg391His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM76|Q9HA42	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.R391H	ENST00000317702.5	37	c.1172	CCDS11858.1	18	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968179	0.74131	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.85773	-2.03	5.5	5.5	0.81552	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.045958	0.85682	D	0.000000	D	0.94371	0.8190	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.965;0.969	D	0.95100	0.8229	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	363;391	B4DP54;Q9BUF5	.;TBB6_HUMAN	H	391;319;363	ENSP00000318697:R391H	ENSP00000318697:R391H	R	+	2	0	TUBB6	12315960	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	CGC	TUBB6	-	superfamily_Tub_FtsZ_C,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	ENSG00000176014		0.602	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	HGNC	protein_coding	OTTHUMT00000254600.2	61	0.00	0	G	NM_032525		12325960	12325960	+1	no_errors	ENST00000317702	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	41012240	41012240	+	Silent	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chrX:41012240C>T	ENST00000324545.8	+	14	2436	c.1803C>T	c.(1801-1803)gaC>gaT	p.D601D	USP9X_ENST00000378308.2_Silent_p.D601D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	601					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCGCCATGACTTAATCAATC	0.378																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													162.0	153.0	156.0					X																	41012240		2171	4288	6459	-	-	-	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1803C>T	X.37:g.41012240C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.D601	ENST00000324545.8	37	c.1803	CCDS43930.1	X																																																																																			USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.378	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	283	0.00	0	C	NM_004652		41012240	41012240	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	silent	241	19.67	59	SNP	0.984	T
VAV3	10451	genome.wustl.edu	37	1	108507315	108507317	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr1:108507315_108507317delCTC	ENST00000370056.4	-	1	449_451	c.175_177delGAG	c.(175-177)gagdel	p.E59del	VAV3_ENST00000371846.4_5'UTR|VAV3_ENST00000527011.1_In_Frame_Del_p.E59del|VAV3-AS1_ENST00000438318.1_RNA	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	59	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCAGGTTGATCTCCTTCAGGTTG	0.621																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.175_177delGAG	1.37:g.108507315_108507317delCTC	ENSP00000359073:p.Glu59del	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	In_Frame_Del	DEL	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.E59in_frame_del	ENST00000370056.4	37	c.177_175	CCDS785.1	1																																																																																			VAV3	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000134215		0.621	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	33	0.00	0	CTC	NM_006113		108507315	108507317	-1	no_errors	ENST00000370056	ensembl	human	known	69_37n	in_frame_del	13	38.10	8	DEL	1.000:1.000:1.000	-
ZBTB2	57621	genome.wustl.edu	37	6	151687962	151687962	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr6:151687962A>T	ENST00000325144.4	-	3	379	c.239T>A	c.(238-240)aTg>aAg	p.M80K		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CCCAGTGTACATCAAGTGTAA	0.478																																						dbGAP											0													128.0	128.0	128.0					6																	151687962		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.239T>A	6.37:g.151687962A>T	ENSP00000323183:p.Met80Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M80K	ENST00000325144.4	37	c.239	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190270	0.78789	.	.	ENSG00000181472	ENST00000325144	T	0.69806	-0.43	5.72	5.72	0.89469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82926	0.5143	M	0.91038	3.17	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.87170	0.2220	10	0.87932	D	0	-50.5903	16.0204	0.80478	1.0:0.0:0.0:0.0	.	80	Q8N680	ZBTB2_HUMAN	K	80	ENSP00000323183:M80K	ENSP00000323183:M80K	M	-	2	0	ZBTB2	151729655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.174000	0.68829	0.533000	0.62120	ATG	ZBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000181472		0.478	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	22	0.00	0	A	NM_020861		151687962	151687962	-1	no_errors	ENST00000325144	ensembl	human	known	69_37n	missense	18	44.12	15	SNP	1.000	T
ZEB1	6935	genome.wustl.edu	37	10	31809597	31809597	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr10:31809597A>G	ENST00000320985.10	+	7	1444	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.N446S|ZEB1_ENST00000446923.2_Missense_Mutation_p.N429S|ZEB1_ENST00000542815.3_Missense_Mutation_p.N378S|ZEB1_ENST00000560721.2_Missense_Mutation_p.N425S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	445					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GAAACAATCAATGCTTCACCC	0.378																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													80.0	75.0	77.0					10																	31809597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1334A>G	10.37:g.31809597A>G	ENSP00000319248:p.Asn445Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.N446S	ENST00000320985.10	37	c.1337	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	A	1.408	-0.576244	0.03882	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.87	-8.23	0.01033	.	0.716035	0.13761	N	0.364579	T	0.38214	0.1032	N	0.02011	-0.69	0.09310	N	0.999997	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.0;0.002;0.0;0.001	T	0.46816	-0.9164	10	0.06625	T	0.88	-1.0957	14.3211	0.66487	0.4415:0.0721:0.4864:0.0	.	378;445;429;445;445;425;446;445	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	227;445;446;445;378;445;425;304;336;429	ENSP00000444282:N227S;ENSP00000354487:N446S;ENSP00000444891:N378S;ENSP00000319248:N445S;ENSP00000391612:N429S	ENSP00000319248:N445S	N	+	2	0	ZEB1	31849603	0.000000	0.05858	0.515000	0.27774	0.995000	0.86356	-1.991000	0.01478	-1.624000	0.01556	-0.250000	0.11733	AAT	ZEB1	-	NULL	ENSG00000148516		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	52	0.00	0	A	NM_030751		31809597	31809597	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	missense	17	50.00	17	SNP	0.287	G
ZNF423	23090	genome.wustl.edu	37	16	49669753	49669753	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XZ-01A-11D-A14K-09	TCGA-D8-A1XZ-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	381a9211-1f2b-4c14-895b-ee7fb6eb8c7f	1f6f5abe-614f-4f57-930c-e0ea2384cde6	g.chr16:49669753C>T	ENST00000561648.1	-	4	3363	c.3310G>A	c.(3310-3312)Gtg>Atg	p.V1104M	ZNF423_ENST00000563137.2_Missense_Mutation_p.V1044M|ZNF423_ENST00000567169.1_Missense_Mutation_p.V987M|ZNF423_ENST00000535559.1_Missense_Mutation_p.V987M|ZNF423_ENST00000562871.1_Missense_Mutation_p.V1044M|ZNF423_ENST00000262383.2_Missense_Mutation_p.V1104M|ZNF423_ENST00000562520.1_Missense_Mutation_p.V1044M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1104					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGCCACCCACCTGTCCGTTG	0.687																																						dbGAP											0													17.0	20.0	19.0					16																	49669753		2194	4296	6490	-	-	-	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3310G>A	16.37:g.49669753C>T	ENSP00000455426:p.Val1104Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1104M	ENST00000561648.1	37	c.3310	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	9.280	1.047856	0.19827	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08546	3.08;3.12	5.16	5.16	0.70880	.	0.413390	0.26688	N	0.023015	T	0.04182	0.0116	N	0.08118	0	0.26791	N	0.969409	B	0.16166	0.016	B	0.12156	0.007	T	0.40327	-0.9569	9	.	.	.	-10.7385	9.0017	0.36085	0.205:0.6636:0.1314:0.0	.	1104	Q2M1K9	ZN423_HUMAN	M	1104;987	ENSP00000262383:V1104M;ENSP00000442321:V987M	.	V	-	1	0	ZNF423	48227254	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	1.032000	0.30178	2.404000	0.81709	0.561000	0.74099	GTG	ZNF423	-	NULL	ENSG00000102935		0.687	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	14	0.00	0	C	NM_015069		49669753	49669753	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.981	T
