#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
ATP10B	23120	genome.wustl.edu	37	5	160097495	160097495	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr5:160097495C>T	ENST00000327245.5	-	7	1496	c.650G>A	c.(649-651)tGt>tAt	p.C217Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	217			C -> R (in dbSNP:rs958912). {ECO:0000269|PubMed:14702039}.		phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C217Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCACGACACATCTTTGCTT	0.463																																						dbGAP											1	Substitution - Missense(1)	lung(1)											185.0	170.0	175.0					5																	160097495		1908	4155	6063	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.650G>A	5.37:g.160097495C>T	ENSP00000313600:p.Cys217Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.C217Y	ENST00000327245.5	37	c.650	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	8.926	0.962165	0.18583	.	.	ENSG00000118322	ENST00000327245	T	0.74421	-0.84	5.13	3.33	0.38152	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.378221	0.27447	N	0.019328	T	0.38719	0.1051	N	0.00801	-1.175	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	0.29761	-1.0001	9	.	.	.	.	8.1648	0.31220	0.0:0.7575:0.0:0.2425	.	217;189;217	O94823-2;O94823-3;O94823	.;.;AT10B_HUMAN	Y	217	ENSP00000313600:C217Y	.	C	-	2	0	ATP10B	160030073	0.003000	0.15002	0.622000	0.29159	0.389000	0.30415	0.027000	0.13621	1.303000	0.44873	-0.224000	0.12420	TGT	ATP10B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000118322		0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	256	0.78	2	C	NM_025153		160097495	160097495	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	89	32.06	42	SNP	0.712	T
BCL11A	53335	genome.wustl.edu	37	2	60687616	60687616	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr2:60687616C>T	ENST00000335712.6	-	4	2658	c.2431G>A	c.(2431-2433)Gtg>Atg	p.V811M	BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V777M|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	811					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.V811M(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTGTACACGCTAAAAGGC	0.433			T	IGH@	B-CLL																																	dbGAP		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	1	Substitution - Missense(1)	pancreas(1)											124.0	121.0	122.0					2																	60687616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2431G>A	2.37:g.60687616C>T	ENSP00000338774:p.Val811Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V811M	ENST00000335712.6	37	c.2431	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278378	0.59758	.	.	ENSG00000119866	ENST00000335712;ENST00000358510	T;T	0.07688	3.17;3.17	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.161807	0.40222	N	0.001160	T	0.26304	0.0642	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.00036	-1.2258	10	0.34782	T	0.22	-2.5181	20.5666	0.99351	0.0:1.0:0.0:0.0	.	777;811	Q9H165-6;Q9H165	.;BC11A_HUMAN	M	811;777	ENSP00000338774:V811M;ENSP00000351307:V777M	ENSP00000338774:V811M	V	-	1	0	BCL11A	60541120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	GTG	BCL11A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000119866		0.433	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	100	0.00	0	C	NM_022893		60687616	60687616	-1	no_errors	ENST00000335712	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	1.000	T
C1orf111	284680	genome.wustl.edu	37	1	162343895	162343895	+	Silent	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:162343895G>A	ENST00000367935.5	-	3	808	c.729C>T	c.(727-729)ttC>ttT	p.F243F	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	243										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CAGGACTATTGAAGGCCTGGC	0.542																																						dbGAP											0													147.0	155.0	152.0					1																	162343895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.729C>T	1.37:g.162343895G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X961|Q8NEC3	Silent	SNP	NULL	p.F243	ENST00000367935.5	37	c.729	CCDS1238.1	1																																																																																			C1orf111	-	NULL	ENSG00000171722		0.542	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	66	0.00	0	G	NM_182581		162343895	162343895	-1	no_errors	ENST00000367935	ensembl	human	known	69_37n	silent	60	10.45	7	SNP	1.000	A
CNGA4	1262	genome.wustl.edu	37	11	6261794	6261794	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr11:6261794G>A	ENST00000379936.2	+	4	885	c.770G>A	c.(769-771)gGt>gAt	p.G257D	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	257					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCGTCATGGGTTTCGCCACC	0.537																																						dbGAP											0													89.0	81.0	84.0					11																	6261794		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.770G>A	11.37:g.6261794G>A	ENSP00000369268:p.Gly257Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.G257D	ENST00000379936.2	37	c.770	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107640	0.77096	.	.	ENSG00000132259	ENST00000379936	D	0.98437	-4.93	5.3	5.3	0.74995	Ion transport (1);	0.050944	0.85682	D	0.000000	D	0.97451	0.9166	L	0.36672	1.1	0.42879	D	0.994163	D;P	0.60160	0.987;0.817	P;B	0.52710	0.707;0.429	D	0.98525	1.0625	10	0.87932	D	0	.	17.8807	0.88840	0.0:0.0:1.0:0.0	.	257;217	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	D	257	ENSP00000369268:G257D	ENSP00000369268:G257D	G	+	2	0	CNGA4	6218370	0.962000	0.33011	0.994000	0.49952	0.996000	0.88848	1.277000	0.33167	2.640000	0.89533	0.561000	0.74099	GGT	CNGA4	-	pfam_Ion_trans_dom	ENSG00000132259		0.537	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	50	0.00	0	G	NM_001037329		6261794	6261794	+1	no_errors	ENST00000379936	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	A
EIF4A3	9775	genome.wustl.edu	37	17	78110120	78110120	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr17:78110120G>C	ENST00000269349.3	-	10	1219	c.998C>G	c.(997-999)tCt>tGt	p.S333C		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	333	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GACATCTGTAGAAATAAGCAC	0.413																																						dbGAP											0													79.0	78.0	78.0					17																	78110120		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.998C>G	17.37:g.78110120G>C	ENSP00000269349:p.Ser333Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S333C	ENST00000269349.3	37	c.998	CCDS11767.1	17	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254828	0.39896	.	.	ENSG00000141543	ENST00000269349	T	0.05382	3.45	4.38	4.38	0.52667	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.05135	0.0137	N	0.12527	0.23	0.80722	D	1	B	0.18610	0.029	B	0.24155	0.051	T	0.41124	-0.9526	10	0.62326	D	0.03	-22.9387	14.4577	0.67428	0.0:0.0:1.0:0.0	.	333	P38919	IF4A3_HUMAN	C	333	ENSP00000269349:S333C	ENSP00000269349:S333C	S	-	2	0	EIF4A3	75724715	1.000000	0.71417	0.105000	0.21289	0.652000	0.38707	8.994000	0.93529	2.293000	0.77203	0.655000	0.94253	TCT	EIF4A3	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000141543		0.413	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A3	HGNC	protein_coding	OTTHUMT00000437446.1	184	0.00	0	G	NM_014740		78110120	78110120	-1	no_errors	ENST00000269349	ensembl	human	known	69_37n	missense	52	23.53	16	SNP	0.890	C
EPHB6	2051	genome.wustl.edu	37	7	142568630	142568630	+	Silent	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr7:142568630G>A	ENST00000392957.2	+	20	3826	c.3039G>A	c.(3037-3039)ctG>ctA	p.L1013L	EPHB6_ENST00000411471.2_Silent_p.L736L|EPHB6_ENST00000442129.1_Silent_p.L1013L|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	1013						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AGCAACACCTGAGGCAGCAGG	0.627																																						dbGAP											0													57.0	51.0	53.0					7																	142568630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.3039G>A	7.37:g.142568630G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L1013	ENST00000392957.2	37	c.3039	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed	ENSG00000106123		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	30	0.00	0	G			142568630	142568630	+1	no_errors	ENST00000392957	ensembl	human	known	69_37n	silent	22	43.59	17	SNP	1.000	A
EYA2	2139	genome.wustl.edu	37	20	45801427	45801427	+	Silent	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr20:45801427G>A	ENST00000327619.5	+	12	1484	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	EYA2_ENST00000357410.3_Silent_p.V370V|EYA2_ENST00000317304.6_Silent_p.V340V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	370					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTCTGGCGTGCACGGCGGCG	0.607																																					Pancreas(120;56 1725 18501 25218 43520)	dbGAP											0													118.0	94.0	102.0					20																	45801427		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1110G>A	20.37:g.45801427G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.V370	ENST00000327619.5	37	c.1110	CCDS13403.1	20																																																																																			EYA2	-	pfam_Dehalogen-like_hydro,tigrfam_EYA	ENSG00000064655		0.607	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	127	0.00	0	G	NM_005244		45801427	45801427	+1	no_errors	ENST00000327619	ensembl	human	known	69_37n	silent	87	12.12	12	SNP	0.330	A
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	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	61	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	28	12.50	4	INS	0.033:0.036	GCA
GATA3	2625	genome.wustl.edu	37	10	8100440	8100440	+	Silent	SNP	C	C	G			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr10:8100440C>G	ENST00000346208.3	+	3	869	c.414C>G	c.(412-414)tcC>tcG	p.S138S	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.S138S			P23771	GATA3_HUMAN	GATA binding protein 3	138	Poly-Ser.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGGCCTCGTCCTCCTCCTTGT	0.716			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													42.0	54.0	50.0					10																	8100440		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.414C>G	10.37:g.8100440C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S138	ENST00000346208.3	37	c.414	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.716	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	42	0.00	0	C	NM_001002295		8100440	8100440	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	silent	18	35.71	10	SNP	0.884	G
FUOM	282969	genome.wustl.edu	37	10	135170746	135170746	+	Silent	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr10:135170746C>T	ENST00000368552.3	-	2	116	c.99G>A	c.(97-99)ttG>ttA	p.L33L	FUOM_ENST00000447176.1_Intron|FUOM_ENST00000278025.4_Silent_p.L33L|FUOM_ENST00000368551.1_5'UTR|FUOM_ENST00000465384.1_5'UTR	NM_001098483.1	NP_001091953.1	A2VDF0	FUCM_HUMAN	fucose mutarotase	33					female mating behavior (GO:0060180)|fucose metabolic process (GO:0006004)|fucosylation (GO:0036065)|negative regulation of neuron differentiation (GO:0045665)		fucose binding (GO:0042806)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)										CCGGGAAGTTCAAGTCCGCAA	0.701																																						dbGAP											0													36.0	31.0	33.0					10																	135170746		2165	4248	6413	-	-	-	SO:0001819	synonymous_variant	0			AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	5.1.3.n2		24733	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 125"""	C10orf125		17602138	Standard	NM_001098483		Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368552.3:c.99G>A	10.37:g.135170746C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L300|Q5VWY2|Q5VWY3|Q6ZPD2	Silent	SNP	pfam_RbsD_FucU,superfamily_RbsD-like	p.L33	ENST00000368552.3	37	c.99	CCDS44499.1	10																																																																																			FUOM	-	pfam_RbsD_FucU,superfamily_RbsD-like	ENSG00000148803		0.701	FUOM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FUOM	HGNC	protein_coding		35	0.00	0	C	NM_198472		135170746	135170746	-1	no_errors	ENST00000368552	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.275	T
GIMAP4	55303	genome.wustl.edu	37	7	150269546	150269546	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr7:150269546G>A	ENST00000255945.2	+	3	563	c.388G>A	c.(388-390)Gag>Aag	p.E130K	GIMAP4_ENST00000461940.1_Missense_Mutation_p.E144K|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	130	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTGAGGAAGAGCACAAAGC	0.488																																						dbGAP											0													82.0	79.0	80.0					7																	150269546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.388G>A	7.37:g.150269546G>A	ENSP00000255945:p.Glu130Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AIG1	p.E130K	ENST00000255945.2	37	c.388	CCDS5904.1	7	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026765	0.75390	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.09163	3.01;3.01;3.01	4.72	4.72	0.59763	AIG1 (1);	0.111502	0.64402	D	0.000012	T	0.34164	0.0888	M	0.85462	2.755	0.50039	D	0.999849	P;D	0.59357	0.946;0.985	P;D	0.64506	0.67;0.926	T	0.15350	-1.0440	10	0.87932	D	0	.	13.0417	0.58904	0.0:0.0:1.0:0.0	.	144;130	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	K	130;144;144	ENSP00000255945:E130K;ENSP00000419545:E144K;ENSP00000418615:E144K	ENSP00000255945:E130K	E	+	1	0	GIMAP4	149900479	1.000000	0.71417	0.990000	0.47175	0.031000	0.12232	5.385000	0.66231	2.473000	0.83533	0.655000	0.94253	GAG	GIMAP4	-	pfam_AIG1	ENSG00000133574		0.488	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	HGNC	protein_coding	OTTHUMT00000348927.1	98	0.00	0	G	NM_018326		150269546	150269546	+1	no_errors	ENST00000255945	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	1.000	A
GLRX2	51022	genome.wustl.edu	37	1	193065756	193065756	+	Nonstop_Mutation	SNP	C	C	G			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:193065756C>G	ENST00000367439.3	-	4	542	c.494G>C	c.(493-495)tGa>tCa	p.*165S	GLRX2_ENST00000472197.1_5'Flank|GLRX2_ENST00000367440.3_Nonstop_Mutation_p.*166S	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	0					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	GTATAAACATCACTGAAATTC	0.333																																						dbGAP											0													52.0	52.0	52.0					1																	193065756		2201	4300	6501	-	-	-	SO:0001578	stop_lost	0			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.494G>C	1.37:g.193065756C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Nonstop_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir	p.*166S	ENST00000367439.3	37	c.497	CCDS1381.1	1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214243	0.39102	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	.	.	.	4.94	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3319	0.15938	0.0:0.6485:0.1677:0.1838	.	.	.	.	S	165;166	.	.	X	-	2	2	GLRX2	191332379	0.333000	0.24731	0.203000	0.23512	0.372000	0.29890	0.254000	0.18314	1.321000	0.45227	0.561000	0.74099	TGA	GLRX2	-	NULL	ENSG00000023572		0.333	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLRX2	HGNC	protein_coding	OTTHUMT00000086699.1	193	0.00	0	C	NM_016066		193065756	193065756	-1	no_errors	ENST00000367440	ensembl	human	known	69_37n	nonstop	103	17.46	22	SNP	0.093	G
GOLPH3	64083	genome.wustl.edu	37	5	32143957	32143957	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr5:32143957T>C	ENST00000265070.6	-	2	570	c.255A>G	c.(253-255)atA>atG	p.I85M	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	85					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ATCCAGATGATATACAGTCAT	0.308																																						dbGAP											0													105.0	105.0	105.0					5																	32143957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.255A>G	5.37:g.32143957T>C	ENSP00000265070:p.Ile85Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UIW5	Missense_Mutation	SNP	pfam_GPP34	p.I85M	ENST00000265070.6	37	c.255	CCDS3896.1	5	.	.	.	.	.	.	.	.	.	.	T	17.30	3.354857	0.61293	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.19	5.19	0.71726	.	0.047564	0.85682	D	0.000000	T	0.80989	0.4730	M	0.93283	3.4	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.83206	-0.0076	9	0.62326	D	0.03	.	5.9442	0.19209	0.2082:0.0:0.2559:0.5359	.	85	Q9H4A6	GOLP3_HUMAN	M	85;68	.	ENSP00000265070:I85M	I	-	3	3	GOLPH3	32179714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.106000	0.50322	1.971000	0.57363	0.524000	0.50904	ATA	GOLPH3	-	pfam_GPP34	ENSG00000113384		0.308	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2	212	0.00	0	T	NM_022130		32143957	32143957	-1	no_errors	ENST00000265070	ensembl	human	known	69_37n	missense	53	48.04	49	SNP	1.000	C
GPRIN2	9721	genome.wustl.edu	37	10	46998995	46998995	+	Missense_Mutation	SNP	C	C	G	rs4926045	byFrequency	TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr10:46998995C>G	ENST00000374317.1	+	3	388	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.L39V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	39			L -> V (in dbSNP:rs4926045).							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGCCAGAGCTCCGCAAGAC	0.711																																						dbGAP											0													33.0	43.0	40.0					10																	46998995		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.115C>G	10.37:g.46998995C>G	ENSP00000363436:p.Leu39Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVF0	Missense_Mutation	SNP	NULL	p.L39V	ENST00000374317.1	37	c.115	CCDS31192.1	10	1012	0.4633699633699634	185	0.37601626016260165	176	0.4861878453038674	282	0.493006993006993	369	0.4868073878627968	C	13.49	2.252220	0.39797	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.07444	3.19;3.19	5.44	4.53	0.55603	.	0.364802	0.20240	N	0.096305	T	0.00012	0.0000	M	0.69823	2.125	0.29865	N	0.827312	P	0.46277	0.875	P	0.47376	0.545	T	0.38757	-0.9646	10	0.66056	D	0.02	-16.6038	10.5533	0.45101	0.0:0.9103:0.0:0.0897	rs4926045	39	O60269	GRIN2_HUMAN	V	39	ENSP00000363436:L39V;ENSP00000363433:L39V	ENSP00000363433:L39V	L	+	1	0	GPRIN2	46419001	1.000000	0.71417	0.734000	0.30879	0.281000	0.26958	1.663000	0.37429	1.447000	0.47661	0.655000	0.94253	CTC	GPRIN2	-	NULL	ENSG00000204175		0.711	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	10	0.00	0	C	NM_014696		46998995	46998995	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.989	G
HMGN5	79366	genome.wustl.edu	37	X	80370668	80370668	+	Missense_Mutation	SNP	T	T	G	rs143679569		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chrX:80370668T>G	ENST00000358130.2	-	7	657	c.329A>C	c.(328-330)gAa>gCa	p.E110A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	110					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						tcctcccttttctGTGGCATC	0.358																																						dbGAP											0													53.0	37.0	42.0					X																	80370668		2197	4292	6489	-	-	-	SO:0001583	missense	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.329A>C	X.37:g.80370668T>G	ENSP00000350848:p.Glu110Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSL1	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.E110A	ENST00000358130.2	37	c.329	CCDS14448.1	X	.	.	.	.	.	.	.	.	.	.	T	4.830	0.154319	0.09236	.	.	ENSG00000198157	ENST00000358130;ENST00000447319;ENST00000373250;ENST00000430960	.	.	.	3.79	2.57	0.30868	.	0.253482	0.20280	U	0.095464	T	0.18467	0.0443	L	0.27053	0.805	0.09310	N	1	P	0.46784	0.884	B	0.40565	0.333	T	0.08576	-1.0715	9	0.49607	T	0.09	.	5.3951	0.16265	0.0:0.1331:0.0:0.8669	.	110	P82970	HMGN5_HUMAN	A	110;90;100;110	.	ENSP00000350848:E110A	E	-	2	0	HMGN5	80257324	0.079000	0.21365	0.047000	0.18901	0.117000	0.20001	1.883000	0.39658	0.594000	0.29761	0.441000	0.28932	GAA	HMGN5	-	NULL	ENSG00000198157		0.358	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	537	0.37	2	T	NM_030763		80370668	80370668	-1	no_errors	ENST00000358130	ensembl	human	known	69_37n	missense	119	41.09	83	SNP	0.045	G
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	264	0.00	0	C	NM_033360		25398284	25398284	-1	no_errors	ENST00000256078	ensembl	human	known	69_37n	missense	82	29.91	35	SNP	1.000	A
IRAK3	11213	genome.wustl.edu	37	12	66638269	66638269	+	Silent	SNP	A	A	C			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr12:66638269A>C	ENST00000261233.4	+	9	1312	c.891A>C	c.(889-891)gcA>gcC	p.A297A	IRAK3_ENST00000457197.2_Silent_p.A236A	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATTTTAGTGCAAACATCCTTT	0.368																																						dbGAP											0													93.0	86.0	89.0					12																	66638269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.891A>C	12.37:g.66638269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.A297	ENST00000261233.4	37	c.891	CCDS8975.1	12																																																																																			IRAK3	-	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	ENSG00000090376		0.368	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	156	0.00	0	A			66638269	66638269	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	silent	38	44.93	31	SNP	0.997	C
LARP6	55323	genome.wustl.edu	37	15	71128708	71128708	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr15:71128708C>T	ENST00000299213.8	-	2	407	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	113	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGCAAAAAGGCGTCCTTCTCC	0.483																																						dbGAP											0													127.0	126.0	126.0					15																	71128708		2199	4297	6496	-	-	-	SO:0001583	missense	0			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.337G>A	15.37:g.71128708C>T	ENSP00000299213:p.Ala113Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.A113T	ENST00000299213.8	37	c.337	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.330142	0.95733	.	.	ENSG00000166173	ENST00000299213	T	0.42131	0.98	5.58	4.66	0.58398	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.39210	-0.9625	10	0.23302	T	0.38	-28.0657	11.4879	0.50365	0.0:0.9137:0.0:0.0863	.	113	Q9BRS8	LARP6_HUMAN	T	113	ENSP00000299213:A113T	ENSP00000299213:A113T	A	-	1	0	LARP6	68915762	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.619000	0.67729	2.627000	0.88993	0.655000	0.94253	GCC	LARP6	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	ENSG00000166173		0.483	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	156	0.00	0	C	NM_018357		71128708	71128708	-1	no_errors	ENST00000299213	ensembl	human	known	69_37n	missense	41	45.45	35	SNP	1.000	T
LCAT	3931	genome.wustl.edu	37	16	67977911	67977911	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr16:67977911A>T	ENST00000264005.5	-	1	123	c.94T>A	c.(94-96)Ttc>Atc	p.F32I	SLC12A4_ENST00000422611.2_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	32					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TGCGGGGGGAAGAGCACATTG	0.692																																						dbGAP											0													23.0	18.0	20.0					16																	67977911		1992	3947	5939	-	-	-	SO:0001583	missense	0				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.94T>A	16.37:g.67977911A>T	ENSP00000264005:p.Phe32Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.F32I	ENST00000264005.5	37	c.94	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752189	0.89753	.	.	ENSG00000213398	ENST00000264005	D	0.96459	-4.02	5.13	5.13	0.70059	.	0.000000	0.85682	U	0.000000	D	0.96914	0.8992	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96330	0.9243	10	0.38643	T	0.18	-16.4354	13.1887	0.59697	1.0:0.0:0.0:0.0	.	32	P04180	LCAT_HUMAN	I	32	ENSP00000264005:F32I	ENSP00000264005:F32I	F	-	1	0	LCAT	66535412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.806000	0.55583	2.078000	0.62432	0.460000	0.39030	TTC	LCAT	-	NULL	ENSG00000213398		0.692	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	42	0.00	0	A			67977911	67977911	-1	no_errors	ENST00000264005	ensembl	human	known	69_37n	missense	23	50.00	24	SNP	1.000	T
LILRB3	11025	genome.wustl.edu	37	19	54726628	54726628	+	Missense_Mutation	SNP	C	C	T	rs200758022	byFrequency	TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr19:54726628C>T	ENST00000391750.1	-	3	197	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.V21M|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.V21M|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000245620.9_Missense_Mutation_p.V21M|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	21			V -> M (in dbSNP:rs1132588).		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGCCTGCACGCGGGTCCTG	0.657																																						dbGAP											0													2.0	2.0	2.0					19																	54726628		1163	2749	3912	-	-	-	SO:0001583	missense	0			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.61G>A	19.37:g.54726628C>T	ENSP00000375630:p.Val21Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V21M	ENST00000391750.1	37	c.61	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	C	7.872	0.728256	0.15507	.	.	ENSG00000204577	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000445347	T;T;T;T;T	0.00522	7.06;7.06;7.02;7.05;6.84	2.9	0.662	0.17880	Immunoglobulin-like fold (1);	0.896200	0.09207	N	0.833786	T	0.00998	0.0033	M	0.71296	2.17	0.09310	N	1	D;P	0.67145	0.996;0.944	P;P	0.58620	0.842;0.606	T	0.50906	-0.8772	10	0.51188	T	0.08	.	4.0591	0.09831	0.0:0.6121:0.2464:0.1415	.	21;21	O75022;O75022-3	LIRB3_HUMAN;.	M	21	ENSP00000375630:V21M;ENSP00000412771:V21M;ENSP00000345184:V21M;ENSP00000245620:V21M;ENSP00000388199:V21M	ENSP00000245620:V21M	V	-	1	0	LILRB3	59418440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.246000	0.08878	0.274000	0.22072	-0.241000	0.12123	GTG	LILRB3	-	NULL	ENSG00000204577		0.657	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	11	0.00	0	C	NM_006864		54726628	54726628	-1	no_errors	ENST00000346401	ensembl	human	known	69_37n	missense	3	50.00	3	SNP	0.000	T
LRFN5	145581	genome.wustl.edu	37	14	42360996	42360996	+	Silent	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr14:42360996G>A	ENST00000298119.4	+	4	3118	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	643						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCCAAAAGCAGAAAAGAAAGA	0.453										HNSCC(30;0.082)																												dbGAP											0													95.0	80.0	85.0					14																	42360996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1929G>A	14.37:g.42360996G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU78|Q86XL2	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q643	ENST00000298119.4	37	c.1929	CCDS9678.1	14																																																																																			LRFN5	-	NULL	ENSG00000165379		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	157	0.00	0	G	NM_152447		42360996	42360996	+1	no_errors	ENST00000298119	ensembl	human	known	69_37n	silent	44	42.11	32	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12016634	12016634	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr17:12016634C>T	ENST00000353533.5	+	7	833	c.770C>T	c.(769-771)tCt>tTt	p.S257F	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S268F	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTTGTGGACTCTATTGCCAAG	0.448			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											105.0	102.0	103.0					17																	12016634		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.770C>T	17.37:g.12016634C>T	ENSP00000262445:p.Ser257Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S268F	ENST00000353533.5	37	c.803	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658600	0.88154	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.22539	1.95;1.95	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058411	0.64402	D	0.000001	T	0.46347	0.1388	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50516	-0.8819	10	0.87932	D	0	.	15.9716	0.80025	0.0:1.0:0.0:0.0	.	129;268;257	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	F	257;268;234;129	ENSP00000262445:S257F;ENSP00000410402:S268F	ENSP00000262445:S257F	S	+	2	0	MAP2K4	11957359	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.297000	0.77311	0.591000	0.81541	TCT	MAP2K4	-	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	ENSG00000065559		0.448	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	120	0.00	0	C			12016634	12016634	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	13	56.67	17	SNP	1.000	T
MAPK4	5596	genome.wustl.edu	37	18	48255652	48255652	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr18:48255652C>T	ENST00000400384.2	+	6	2228	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.R187C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	398					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R398C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTGGACCCGCGCAAGGACTC	0.701																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											15.0	18.0	17.0					18																	48255652		2083	4194	6277	-	-	-	SO:0001583	missense	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1192C>T	18.37:g.48255652C>T	ENSP00000383234:p.Arg398Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4C4|Q0VG04	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4	p.R398C	ENST00000400384.2	37	c.1192	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412600	0.83340	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.76578	-1.03;0.98	5.51	4.64	0.57946	.	0.000000	0.64402	D	0.000018	T	0.78240	0.4252	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	P	0.56042	0.79	T	0.80688	-0.1271	10	0.87932	D	0	-25.978	13.3571	0.60633	0.0:0.9226:0.0:0.0774	.	398	P31152	MK04_HUMAN	C	398;187	ENSP00000383234:R398C;ENSP00000439231:R187C	ENSP00000383234:R398C	R	+	1	0	MAPK4	46509650	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.584000	0.67490	1.318000	0.45170	0.561000	0.74099	CGC	MAPK4	-	NULL	ENSG00000141639		0.701	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	14	0.00	0	C	NM_002747		48255652	48255652	+1	no_errors	ENST00000400384	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17083837	17083837	+	RNA	SNP	T	T	C	rs7798	byFrequency	TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:17083837T>C	ENST00000455405.2	-	0	751							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CTAATTCCTTTCAGGACCCAG	0.572													.|||	796	0.158946	0.3442	0.147	5008	,	,		39830	0.0139		0.1183	False		,,,				2504	0.1084					dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083837T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.K654E	ENST00000455405.2	37	c.1960		1	.	.	.	.	.	.	.	.	.	.	.	4.613	0.113916	0.08831	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.354697	0.20253	N	0.096033	T	0.15478	0.0373	.	.	.	.	.	.	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31752	-0.9932	6	0.07030	T	0.85	.	4.4522	0.11626	0.0:0.6658:0.0:0.3342	rs7798;rs1065517;rs3206536;rs4661972;rs9329464;rs11545932;rs17349417;rs7798	654;680	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	E	654;680	.	ENSP00000439273:K654E	K	-	1	0	MST1P9	16956424	1.000000	0.71417	0.916000	0.36221	0.000000	0.00434	2.244000	0.43124	-0.406000	0.07588	0.000000	0.15137	AAA	MST1P9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000186715		0.572	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	15	0.00	0	T	NM_001271733		17083837	17083837	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	C
MUC15	143662	genome.wustl.edu	37	11	26582735	26582735	+	Silent	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr11:26582735C>T	ENST00000455601.2	-	4	1000	c.882G>A	c.(880-882)gtG>gtA	p.V294V	MUC15_ENST00000281268.8_Silent_p.V271V|MUC15_ENST00000436318.2_Silent_p.V321V|MUC15_ENST00000529533.1_Silent_p.V321V|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Silent_p.V271V|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	294					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TCCCAAAACTCACATCATAAG	0.378																																						dbGAP											0													146.0	131.0	136.0					11																	26582735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.882G>A	11.37:g.26582735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	NULL	p.V321	ENST00000455601.2	37	c.963	CCDS7859.1	11																																																																																			MUC15	-	NULL	ENSG00000169550		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	322	0.00	0	C	NM_145650		26582735	26582735	-1	no_errors	ENST00000436318	ensembl	human	known	69_37n	silent	93	36.73	54	SNP	0.113	T
MYOF	26509	genome.wustl.edu	37	10	95137179	95137182	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr10:95137179_95137182delTTTG	ENST00000359263.4	-	22	2005_2008	c.2006_2009delCAAA	c.(2005-2010)acaaatfs	p.TN669fs	MYOF_ENST00000371501.4_Frame_Shift_Del_p.TN669fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.TN669fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.TN656fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	669					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTTCTATATTTGTTTGCTGAAG	0.328																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2006_2009delCAAA	10.37:g.95137183_95137186delTTTG	ENSP00000352208:p.Thr669fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.T669fs	ENST00000359263.4	37	c.2009_2006	CCDS41551.1	10																																																																																			MYOF	-	NULL	ENSG00000138119		0.328	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	365	0.00	0	TTTG	NM_013451		95137179	95137182	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	frame_shift_del	98	30.99	44	DEL	0.987:0.989:0.900:0.996	-
NXF1	10482	genome.wustl.edu	37	11	62572858	62572858	+	5'UTR	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr11:62572858G>A	ENST00000532297.1	-	0	600				NXF1_ENST00000439713.2_5'UTR|NXF1_ENST00000531709.2_5'UTR|NXF1_ENST00000294172.2_5'UTR|NXF1_ENST00000531131.1_5'UTR|RP11-727F15.13_ENST00000596971.1_RNA			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGGCTCAGGCGCTGGCCGC	0.637																																						dbGAP											0													41.0	36.0	37.0					11																	62572858		2201	4298	6499	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.-30C>T	11.37:g.62572858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E269|Q99799|Q9UQL2	RNA	SNP	-	NULL	ENST00000532297.1	37	NULL	CCDS8037.1	11																																																																																			NXF1	-	-	ENSG00000162231		0.637	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	25	0.00	0	G	NM_006362		62572858	62572858	-1	no_errors	ENST00000526163	ensembl	human	known	69_37n	rna	10	60.00	15	SNP	0.001	A
PCDHA4	56144	genome.wustl.edu	37	5	140187112	140187112	+	Silent	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr5:140187112C>T	ENST00000530339.1	+	1	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	PCDHA4_ENST00000512229.2_Silent_p.L114L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.L114L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACAGGCCGCTGCAGGTTTT	0.577																																						dbGAP											0													70.0	76.0	74.0					5																	140187112		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.340C>T	5.37:g.140187112C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75285|Q2M253	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L114	ENST00000530339.1	37	c.340	CCDS54916.1	5																																																																																			PCDHA4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.577	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	105	0.00	0	C	NM_018907		140187112	140187112	+1	no_errors	ENST00000530339	ensembl	human	known	69_37n	silent	43	20.37	11	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	178	Substitution - Missense(178)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)											61.0	61.0	61.0					3																	178936092		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545A	ENST00000263967.3	37	c.1634	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	189	0.00	0	A			178936092	178936092	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	46	51.06	48	SNP	1.000	C
PLXNA4	91584	genome.wustl.edu	37	7	131848926	131848926	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr7:131848926C>T	ENST00000359827.3	-	24	5437	c.4475G>A	c.(4474-4476)cGc>cAc	p.R1492H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H			Q9HCM2	PLXA4_HUMAN	plexin A4	1492					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AATCTGCTGGCGGATGAGCTT	0.602																																						dbGAP											0													79.0	88.0	85.0					7																	131848926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4475G>A	7.37:g.131848926C>T	ENSP00000352882:p.Arg1492His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1492H	ENST00000359827.3	37	c.4475	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.484409	0.96323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15487	2.42;2.42	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58645	-0.7600	10	0.59425	D	0.04	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1492	Q9HCM2	PLXA4_HUMAN	H	1492	ENSP00000323194:R1492H;ENSP00000352882:R1492H	ENSP00000323194:R1492H	R	-	2	0	PLXNA4	131499466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	CGC	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	175	0.00	0	C	NM_181775		131848926	131848926	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	69	38.94	44	SNP	1.000	T
RBM6	10180	genome.wustl.edu	37	3	50095901	50095901	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr3:50095901A>G	ENST00000266022.4	+	10	2295	c.2036A>G	c.(2035-2037)tAt>tGt	p.Y679C	RBM6_ENST00000422955.1_Missense_Mutation_p.Y157C|RBM6_ENST00000443081.1_Missense_Mutation_p.Y547C|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.Y21C|RBM6_ENST00000442092.1_Missense_Mutation_p.Y157C	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	679					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CTGGAGCCCTATGTCCGCCTT	0.498																																						dbGAP											0													197.0	187.0	190.0					3																	50095901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2036A>G	3.37:g.50095901A>G	ENSP00000266022:p.Tyr679Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.Y679C	ENST00000266022.4	37	c.2036	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873135	0.51695	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.39592	1.07;1.07;1.07;2.94;1.07	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.250233	0.34628	N	0.003809	T	0.39253	0.1071	L	0.50333	1.59	0.42839	D	0.99404	B;B	0.17038	0.02;0.003	B;B	0.14578	0.011;0.011	T	0.17837	-1.0356	9	.	.	.	-2.3889	16.0336	0.80603	1.0:0.0:0.0:0.0	.	547;679	E9PGM9;P78332	.;RBM6_HUMAN	C	157;679;547;21;157	ENSP00000393530:Y157C;ENSP00000266022:Y679C;ENSP00000396466:Y547C;ENSP00000443165:Y21C;ENSP00000392939:Y157C	.	Y	+	2	0	RBM6	50070905	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	3.509000	0.53386	2.189000	0.69895	0.529000	0.55759	TAT	RBM6	-	smart_RRM_dom	ENSG00000004534		0.498	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	110	0.00	0	A	NM_005777		50095901	50095901	+1	no_errors	ENST00000266022	ensembl	human	known	69_37n	missense	43	53.76	50	SNP	0.997	G
SLC6A9	6536	genome.wustl.edu	37	1	44468079	44468079	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:44468079C>A	ENST00000360584.2	-	8	1278	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y	SLC6A9_ENST00000372310.3_Missense_Mutation_p.D290Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D225Y|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D179Y|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D290Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D309Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D225Y	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	363					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAGGCAGCATCACCCCACACC	0.617																																						dbGAP											0													82.0	82.0	82.0					1																	44468079		2203	4300	6503	-	-	-	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1087G>T	1.37:g.44468079C>A	ENSP00000353791:p.Asp363Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.D363Y	ENST00000360584.2	37	c.1087	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307677	0.81247	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.89938	0.6860	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.996;0.998;0.998;1.0	D;D;D;D;D;D	0.97110	1.0;0.948;0.948;0.944;0.944;1.0	D	0.91588	0.5284	10	0.87932	D	0	.	18.8705	0.92311	0.0:1.0:0.0:0.0	.	294;290;225;290;309;363	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	Y	225;290;290;179;363;309;225	ENSP00000361381:D225Y;ENSP00000361380:D290Y;ENSP00000361384:D290Y;ENSP00000434460:D179Y;ENSP00000353791:D363Y;ENSP00000350362:D309Y;ENSP00000442523:D225Y	ENSP00000350362:D309Y	D	-	1	0	SLC6A9	44240666	1.000000	0.71417	0.558000	0.28319	0.801000	0.45260	7.719000	0.84751	2.518000	0.84900	0.655000	0.94253	GAT	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000196517		0.617	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	57	0.00	0	C	NM_201649		44468079	44468079	-1	no_errors	ENST00000360584	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	A
THEM5	284486	genome.wustl.edu	37	1	151819737	151819738	+	Intron	DEL	GG	GG	-			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:151819737_151819738delGG	ENST00000368817.5	-	6	984				AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5						cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			gaggcaggcaggggaggcagga	0.713																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.741+1CC>-	1.37:g.151819739_151819740delGG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1C3	Frame_Shift_Del	DEL	pfam_Thioestr_supf	p.P214fs	ENST00000368817.5	37	c.642_641	CCDS1005.1	1																																																																																			THEM5	-	NULL	ENSG00000196407		0.713	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	HGNC	protein_coding	OTTHUMT00000036678.2	8	0.00	0	GG	NM_182578		151819737	151819738	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453881	ensembl	human	known	69_37n	frame_shift_del	7	33.33	4	DEL	0.878:0.888	-
SPRR2B	6701	genome.wustl.edu	37	1	153043220	153043220	+	Nonsense_Mutation	SNP	G	G	T	rs371615728		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:153043220G>T	ENST00000368755.2	-	1	96	c.96C>A	c.(94-96)tgC>tgA	p.C32*	SPRR2B_ENST00000341611.2_Nonsense_Mutation_p.C32*|SPRR2B_ENST00000368752.4_Nonsense_Mutation_p.C32*			P35325	SPR2B_HUMAN	small proline-rich protein 2B	32	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGCTCAGGGCACTTCGGGG	0.622																																						dbGAP											0													47.0	46.0	46.0					1																	153043220		2202	4278	6480	-	-	-	SO:0001587	stop_gained	0			AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.96C>A	1.37:g.153043220G>T	ENSP00000357744:p.Cys32*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T528	Nonsense_Mutation	SNP	NULL	p.C32*	ENST00000368755.2	37	c.96	CCDS30865.1	1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321690	0.60634	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	.	.	.	3.73	-2.11	0.07187	.	0.486738	0.15803	N	0.243870	.	.	.	.	.	.	0.28156	N	0.929182	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3697	0.32408	0.5728:0.0:0.4272:0.0	.	.	.	.	X	32	.	ENSP00000340703:C32X	C	-	3	2	SPRR2B	151309844	0.908000	0.30866	0.028000	0.17463	0.589000	0.36550	-0.505000	0.06367	-0.435000	0.07264	-0.463000	0.05309	TGC	SPRR2B	-	NULL	ENSG00000196805		0.622	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2B	HGNC	protein_coding	OTTHUMT00000038905.2	249	0.00	0	G			153043220	153043220	-1	no_errors	ENST00000341611	ensembl	human	known	69_37n	nonsense	149	23.98	47	SNP	0.151	T
SPTA1	6708	genome.wustl.edu	37	1	158605731	158605733	+	In_Frame_Del	DEL	CCC	CCC	-	rs573237707		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	CCC	CCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:158605731_158605733delCCC	ENST00000368147.4	-	38	5582_5584	c.5402_5404delGGG	c.(5401-5406)tgggag>tag	p.1801_1802WE>*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGAGCTTCTCCCAGTGTTCAAC	0.522																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001651	inframe_deletion	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5402_5404delGGG	1.37:g.158605731_158605733delCCC	ENSP00000357129:p.Trp1801_Glu1802delins*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	In_Frame_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.WEKLK1801in_frame_del*	ENST00000368147.4	37	c.5404_5402	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	108	0.00	0	CCC	NM_003126		158605731	158605733	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	in_frame_del	84	10.53	10	DEL	1.000:1.000:1.000	-
RYR2	6262	genome.wustl.edu	37	1	237632461	237632461	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:237632461G>T	ENST00000366574.2	+	17	1999	c.1682G>T	c.(1681-1683)aGa>aTa	p.R561I	RYR2_ENST00000360064.6_Missense_Mutation_p.R559I|MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Missense_Mutation_p.R545I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	561					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATCAGCAGATTGGAAAGA	0.373																																						dbGAP											0													111.0	110.0	110.0					1																	237632461		1821	4092	5913	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1682G>T	1.37:g.237632461G>T	ENSP00000355533:p.Arg561Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R559I	ENST00000366574.2	37	c.1676	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796667	0.90453	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88896	-2.44;-2.44;-2.44	5.14	5.14	0.70334	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000006	D	0.91981	0.7460	L	0.42245	1.32	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.92842	0.6289	10	0.87932	D	0	.	15.525	0.75898	0.0:0.0:1.0:0.0	.	561	Q92736	RYR2_HUMAN	I	561;559;545	ENSP00000355533:R561I;ENSP00000353174:R559I;ENSP00000443798:R545I	ENSP00000353174:R559I	R	+	2	0	RYR2	235699084	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.285000	0.51716	2.392000	0.81423	0.563000	0.77884	AGA	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	363	0.00	0	G	NM_001035		237632461	237632461	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	229	20.89	61	SNP	1.000	T
TOMM40	10452	genome.wustl.edu	37	19	45406420	45406420	+	Silent	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr19:45406420C>T	ENST00000426677.2	+	9	1260	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	TOMM40_ENST00000405636.2_Silent_p.I360I|TOMM40_ENST00000252487.5_Silent_p.I360I|APOE_ENST00000252486.4_5'Flank|TOMM40_ENST00000592434.1_3'UTR	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	360					cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GCCTCACCATCGGCTGAGCCC	0.652																																						dbGAP											0													67.0	58.0	61.0					19																	45406420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.1080C>T	19.37:g.45406420C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	pfam_Porin_Euk	p.I360	ENST00000426677.2	37	c.1080	CCDS12646.1	19																																																																																			TOMM40	-	NULL	ENSG00000130204		0.652	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	38	0.00	0	C			45406420	45406420	+1	no_errors	ENST00000252487	ensembl	human	known	69_37n	silent	36	12.20	5	SNP	0.916	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	73	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	52.38	22	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179427821	179427821	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr2:179427821C>T	ENST00000591111.1	-	276	78339	c.78115G>A	c.(78115-78117)Gat>Aat	p.D26039N	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18740N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25112N|TTN_ENST00000460472.2_Missense_Mutation_p.D18615N|TTN_ENST00000589042.1_Missense_Mutation_p.D27680N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18807N|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26039	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGAGATCAGCATCGAGT	0.473																																						dbGAP											0													183.0	179.0	180.0					2																	179427821		1950	4147	6097	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78115G>A	2.37:g.179427821C>T	ENSP00000465570:p.Asp26039Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D25112N	ENST00000591111.1	37	c.75334		2	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915967	0.73098	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;0.09;0.08;0.06	5.97	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71710	0.3372	M	0.64170	1.965	0.58432	D	0.999995	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.54889	0.763;0.763;0.763;0.686	T	0.75844	-0.3174	9	0.87932	D	0	.	15.5817	0.76448	0.0:0.9334:0.0:0.0666	.	18615;18740;18807;26039	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	25112;18615;18807;18740;18613	ENSP00000343764:D25112N;ENSP00000434586:D18615N;ENSP00000340554:D18807N;ENSP00000352154:D18740N	ENSP00000340554:D18807N	D	-	1	0	TTN	179136067	1.000000	0.71417	0.971000	0.41717	0.987000	0.75469	7.818000	0.86416	1.510000	0.48803	0.561000	0.74099	GAT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	99	0.99	1	C	NM_133378		179427821	179427821	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	33	41.07	23	SNP	1.000	T
TXNDC2	84203	genome.wustl.edu	37	18	9887689	9887689	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr18:9887689C>T	ENST00000306084.6	+	2	1412	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	TXNDC2_ENST00000357775.5_Missense_Mutation_p.P338S|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	405	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATTGACATCCCCAAGTCCCC	0.552																																						dbGAP											0													111.0	100.0	104.0					18																	9887689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1213C>T	18.37:g.9887689C>T	ENSP00000304908:p.Pro405Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.P405S	ENST00000306084.6	37	c.1213	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408187	0.42715	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.04970	3.6;3.52	3.98	0.942	0.19525	.	1.842080	0.03418	U	0.205909	T	0.10637	0.0260	N	0.17474	0.49	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.24119	-1.0169	9	.	.	.	-4.4688	3.6891	0.08339	0.1743:0.5689:0.1579:0.0989	.	405	Q86VQ3	TXND2_HUMAN	S	203;338;405;390	ENSP00000350419:P338S;ENSP00000304908:P405S	.	P	+	1	0	TXNDC2	9877689	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.002000	0.12924	0.174000	0.19809	0.603000	0.83216	CCC	TXNDC2	-	NULL	ENSG00000168454		0.552	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	464	0.21	1	C			9887689	9887689	+1	no_errors	ENST00000306084	ensembl	human	known	69_37n	missense	119	38.02	73	SNP	0.000	T
WRAP73	49856	genome.wustl.edu	37	1	3566551	3566551	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:3566551C>T	ENST00000270708.7	-	1	86	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TP73_ENST00000346387.4_5'Flank|TP73_ENST00000357733.3_5'Flank|WRAP73_ENST00000378322.3_Missense_Mutation_p.E5K|TP73_ENST00000604074.1_5'Flank|TP73_ENST00000354437.4_5'Flank|TP73_ENST00000378295.4_5'Flank	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	5						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TTGAATACCTCGGAGAAGTTC	0.701																																						dbGAP											0													17.0	18.0	18.0					1																	3566551		2184	4294	6478	-	-	-	SO:0001583	missense	0			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.13G>A	1.37:g.3566551C>T	ENSP00000270708:p.Glu5Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E5K	ENST00000270708.7	37	c.13	CCDS48.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970163	0.74246	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367;ENST00000419924	T;T;T	0.47528	0.84;0.84;0.91	4.99	4.08	0.47627	.	0.046576	0.85682	N	0.000000	T	0.59729	0.2215	L	0.48877	1.53	0.80722	D	1	P;D;D	0.89917	0.846;1.0;1.0	B;D;D	0.70716	0.279;0.961;0.97	T	0.62091	-0.6927	10	0.72032	D	0.01	-50.7177	12.6002	0.56492	0.0:0.9192:0.0:0.0807	.	5;5;5	B4DYE9;Q9P2S5;Q5T0D5	.;WRP73_HUMAN;.	K	5	ENSP00000270708:E5K;ENSP00000367573:E5K;ENSP00000416192:E5K	ENSP00000270708:E5K	E	-	1	0	WRAP73	3556411	1.000000	0.71417	0.996000	0.52242	0.028000	0.11728	5.276000	0.65580	1.094000	0.41399	-0.291000	0.09656	GAG	WRAP73	-	NULL	ENSG00000116213		0.701	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP73	HGNC	protein_coding	OTTHUMT00000001470.1	14	0.00	0	C			3566551	3566551	-1	no_errors	ENST00000270708	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	T
ZC3H11A	9877	genome.wustl.edu	37	1	203819082	203819082	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AS-01A-11D-A12Q-09	TCGA-AR-A1AS-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3f26f93c-e11a-4ec9-b73b-98fcadc209f4	97a055bf-af49-4c79-bc12-0b3644f21638	g.chr1:203819082G>A	ENST00000545588.1	+	14	5694	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.E623K|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.E623K|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.E623K|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.E623K	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	623					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTGGAGGTAGAAACCTCAGG	0.478																																						dbGAP											0													61.0	61.0	61.0					1																	203819082		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1867G>A	1.37:g.203819082G>A	ENSP00000438527:p.Glu623Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E623K	ENST00000545588.1	37	c.1867	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659096	0.88154	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.92	5.92	0.95590	.	0.239840	0.36854	N	0.002380	T	0.44030	0.1274	M	0.69823	2.125	0.43263	D	0.9952	P	0.48350	0.909	B	0.40506	0.331	T	0.38112	-0.9676	10	0.28530	T	0.3	-33.9952	15.8208	0.78644	0.0:0.0:1.0:0.0	.	623	O75152	ZC11A_HUMAN	K	623;569;623;623;623;623	ENSP00000356183:E623K;ENSP00000356181:E623K;ENSP00000333253:E623K;ENSP00000438527:E623K;ENSP00000356179:E623K	ENSP00000333253:E623K	E	+	1	0	ZC3H11A	202085705	0.999000	0.42202	0.974000	0.42286	0.938000	0.57974	3.604000	0.54081	2.813000	0.96785	0.561000	0.74099	GAA	ZC3H11A	-	NULL	ENSG00000058673		0.478	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	74	0.00	0	G	NM_014827		203819082	203819082	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	0.989	A
