#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
ALOXE3	59344	genome.wustl.edu	37	17	8011882	8011882	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr17:8011882A>C	ENST00000448843.2	-	13	1928	c.1588T>G	c.(1588-1590)Tat>Gat	p.Y530D	ALOXE3_ENST00000380149.1_Missense_Mutation_p.Y686D|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Y662D	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	530	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.Y662D(1)|p.Y530D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGGGATAATAGTAGCCCACG	0.567																																						dbGAP											2	Substitution - Missense(2)	breast(2)											82.0	79.0	80.0					17																	8011882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1588T>G	17.37:g.8011882A>C	ENSP00000400581:p.Tyr530Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.Y662D	ENST00000448843.2	37	c.1984	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392961	0.83011	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.82893	-1.66;-1.66;-1.66	4.85	4.85	0.62838	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.94196	0.7445	10	0.87932	D	0	-10.8979	13.5611	0.61790	1.0:0.0:0.0:0.0	.	662;530;530	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	D	686;662;530	ENSP00000369494:Y686D;ENSP00000314879:Y662D;ENSP00000400581:Y530D	ENSP00000314879:Y662D	Y	-	1	0	ALOXE3	7952607	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.872000	0.75536	2.051000	0.60960	0.460000	0.39030	TAT	ALOXE3	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179148		0.567	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	14	0.00	0	A			8011882	8011882	-1	no_errors	ENST00000318227	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	1.000	C
AP3B1	8546	genome.wustl.edu	37	5	77523987	77523987	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr5:77523987G>C	ENST00000255194.6	-	4	531	c.356C>G	c.(355-357)aCt>aGt	p.T119S	AP3B1_ENST00000519295.1_Missense_Mutation_p.T70S	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	119					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.T119S(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCGCTGAAAAGTGCTTATGGA	0.388									Hermansky-Pudlak syndrome																													dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	95.0	96.0					5																	77523987		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.356C>G	5.37:g.77523987G>C	ENSP00000255194:p.Thr119Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.T119S	ENST00000255194.6	37	c.356	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183080	0.78677	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.66099	-0.19;-0.19	5.48	5.48	0.80851	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.210173	0.49305	D	0.000146	T	0.67757	0.2927	M	0.66378	2.025	0.80722	D	1	B	0.26002	0.139	B	0.34824	0.19	T	0.65063	-0.6259	10	0.45353	T	0.12	-8.9124	19.7648	0.96335	0.0:0.0:1.0:0.0	.	119	O00203	AP3B1_HUMAN	S	119;70;119	ENSP00000255194:T119S;ENSP00000430597:T70S	ENSP00000255194:T119S	T	-	2	0	AP3B1	77559743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.739000	0.93911	0.579000	0.79373	ACT	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	ENSG00000132842		0.388	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	68	0.00	0	G			77523987	77523987	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	missense	33	52.86	37	SNP	1.000	C
ATP11C	286410	genome.wustl.edu	37	X	138845570	138845570	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chrX:138845570C>A	ENST00000327569.3	-	21	2506	c.2408G>T	c.(2407-2409)aGa>aTa	p.R803I	ATP11C_ENST00000361648.2_Missense_Mutation_p.R803I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R803I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.R800I|ATP11C_ENST00000370543.1_Missense_Mutation_p.R803I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	803					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R803I(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTTCACCATTCTGACAATCTA	0.373																																						dbGAP											2	Substitution - Missense(2)	breast(2)											87.0	73.0	78.0					X																	138845570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2408G>T	X.37:g.138845570C>A	ENSP00000332756:p.Arg803Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R803I	ENST00000327569.3	37	c.2408	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630660	0.67015	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.69	4.64	0.57946	HAD-like domain (2);	0.154096	0.64402	D	0.000010	D	0.88746	0.6520	M	0.87038	2.855	0.53005	D	0.999969	P;D;P	0.53619	0.952;0.961;0.952	P;P;P	0.62885	0.851;0.908;0.851	D	0.89767	0.3951	10	0.72032	D	0.01	.	10.0884	0.42432	0.0:0.825:0.0:0.175	.	803;803;803	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	I	800;803;803;803;803	ENSP00000359588:R800I;ENSP00000355165:R803I;ENSP00000332756:R803I;ENSP00000359574:R803I;ENSP00000352715:R803I	ENSP00000332756:R803I	R	-	2	0	ATP11C	138673236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.783000	0.38664	2.405000	0.81733	0.529000	0.55759	AGA	ATP11C	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000101974		0.373	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	132	0.00	0	C	NM_173694		138845570	138845570	-1	no_errors	ENST00000327569	ensembl	human	known	69_37n	missense	71	43.20	54	SNP	1.000	A
BHMT	635	genome.wustl.edu	37	5	78415130	78415130	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr5:78415130A>C	ENST00000274353.5	+	3	322	c.215A>C	c.(214-216)cAg>cCg	p.Q72P	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	72	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.Q72P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AACGTCATGCAGACCTTCACC	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	107.0	109.0					5																	78415130		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.215A>C	5.37:g.78415130A>C	ENSP00000274353:p.Gln72Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.Q72P	ENST00000274353.5	37	c.215	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697573	0.88830	.	.	ENSG00000145692	ENST00000274353	T	0.12465	2.68	5.6	5.6	0.85130	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53892	-0.8374	10	0.40728	T	0.16	-23.5146	16.0786	0.80985	1.0:0.0:0.0:0.0	.	72	Q93088	BHMT1_HUMAN	P	72	ENSP00000274353:Q72P	ENSP00000274353:Q72P	Q	+	2	0	BHMT	78450886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.927000	0.92846	2.254000	0.74563	0.460000	0.39030	CAG	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000145692		0.448	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	34	0.00	0	A	NM_001713		78415130	78415130	+1	no_errors	ENST00000274353	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	C
CROCCP2	84809	genome.wustl.edu	37	1	16952920	16952920	+	lincRNA	SNP	G	G	A	rs1759175		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:16952920G>A	ENST00000412962.1	-	0	696							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCTTGGACAGGGAGTCCTGCA	0.627																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952920G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.627	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	10	0.00	0	G	NR_026752.1		16952920	16952920	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	17	19.05	4	SNP	1.000	A
DENND2C	163259	genome.wustl.edu	37	1	115168327	115168327	+	Silent	SNP	A	A	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:115168327A>G	ENST00000393274.1	-	4	904	c.279T>C	c.(277-279)agT>agC	p.S93S	DENND2C_ENST00000393277.1_Silent_p.S93S|DENND2C_ENST00000393276.3_Silent_p.S93S|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	93					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S93S(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCATTCTCACTTTGATCAT	0.343																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											147.0	146.0	147.0					1																	115168327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.279T>C	1.37:g.115168327A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S93	ENST00000393274.1	37	c.279	CCDS58018.1	1																																																																																			DENND2C	-	NULL	ENSG00000175984		0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	147	0.00	0	A	NM_198459		115168327	115168327	-1	no_errors	ENST00000393274	ensembl	human	known	69_37n	silent	141	10.76	17	SNP	0.805	G
DENND4B	9909	genome.wustl.edu	37	1	153912954	153912954	+	Silent	SNP	C	C	T	rs140778233	byFrequency	TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:153912954C>T	ENST00000361217.4	-	10	1873	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	485	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P485P(1)|p.P373P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CATCAGCAGGCGGGTCATGCA	0.567													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19893	0.002		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	breast(2)											41.0	42.0	41.0					1																	153912954		2049	4189	6238	-	-	-	SO:0001819	synonymous_variant	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1455G>A	1.37:g.153912954C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P485	ENST00000361217.4	37	c.1455	CCDS44228.1	1																																																																																			DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.567	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	15	0.00	0	C	XM_375806		153912954	153912954	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	silent	17	46.88	15	SNP	0.008	T
CENPL	91687	genome.wustl.edu	37	1	173780350	173780350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:173780350G>A	ENST00000345664.6	-	2	301	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CENPL_ENST00000356198.2_Nonsense_Mutation_p.R30*|CENPL_ENST00000367710.3_Nonsense_Mutation_p.R30*|Y_RNA_ENST00000516548.1_RNA	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	30					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R30*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GATTCTAATCGTTTCTGCAGA	0.463																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											172.0	169.0	170.0					1																	173780350		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.88C>T	1.37:g.173780350G>A	ENSP00000323543:p.Arg30*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TEL5|Q96ND4	Nonsense_Mutation	SNP	NULL	p.R30*	ENST00000345664.6	37	c.88	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417938	0.42918	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	.	.	.	5.21	5.21	0.72293	.	0.529435	0.18766	N	0.131750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.5338	12.3639	0.55219	0.0:0.1699:0.8301:0.0	.	.	.	.	X	30	.	ENSP00000323543:R30X	R	-	1	2	CENPL	172046973	1.000000	0.71417	0.988000	0.46212	0.249000	0.25844	3.047000	0.49854	2.585000	0.87301	0.561000	0.74099	CGA	CENPL	-	NULL	ENSG00000120334		0.463	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	55	0.00	0	G	NM_033319		173780350	173780350	-1	no_errors	ENST00000356198	ensembl	human	known	69_37n	nonsense	47	28.79	19	SNP	0.973	A
FAT1	2195	genome.wustl.edu	37	4	187539727	187539727	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr4:187539727G>T	ENST00000441802.2	-	10	8222	c.8013C>A	c.(8011-8013)ttC>ttA	p.F2671L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2671	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2674L(1)|p.F2671L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTCTAACAAAGAAAGTGAAGA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											2	Substitution - Missense(2)	breast(2)											59.0	59.0	59.0					4																	187539727		1845	4090	5935	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8013C>A	4.37:g.187539727G>T	ENSP00000406229:p.Phe2671Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.F2671L	ENST00000441802.2	37	c.8013	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272720	0.59649	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.28069	1.63	5.09	4.21	0.49690	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.33792	1.035	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.24012	-1.0172	10	0.02654	T	1	.	10.9749	0.47461	0.1641:0.0:0.8359:0.0	.	2671	Q14517	FAT1_HUMAN	L	2671;2673	ENSP00000406229:F2671L	ENSP00000260147:F2673L	F	-	3	2	FAT1	187776721	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.169000	0.50809	1.425000	0.47237	0.655000	0.94253	TTC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	32	0.00	0	G	NM_005245		187539727	187539727	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	29	50.00	29	SNP	1.000	T
FERMT2	10979	genome.wustl.edu	37	14	53326539	53326539	+	Intron	DEL	T	T	-			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr14:53326539delT	ENST00000395631.2	-	14	1944				FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AGTACTAttcttttttttttt	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1728-107A>-	14.37:g.53326539delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	DEL	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.453	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	23	0.00	0	T	NM_006832		53326539	53326539	-1	no_errors	ENST00000557255	ensembl	human	known	69_37n	rna	34	10.26	4	DEL	0.120	-
HSD17B7P2	158160	genome.wustl.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						dbGAP											0																																										-	-	-			0					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			HSD17B7P2	-	-	ENSG00000099251		0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	HGNC	pseudogene	OTTHUMT00000047631.2	31	0.00	0	C	NR_003086		38645343	38645343	+1	no_errors	ENST00000494540	ensembl	human	known	69_37n	rna	40	11.11	5	SNP	0.000	T
KCND3	3752	genome.wustl.edu	37	1	112525097	112525097	+	Silent	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:112525097G>A	ENST00000315987.2	-	2	731	c.252C>T	c.(250-252)ttC>ttT	p.F84F	KCND3_ENST00000302127.4_Silent_p.F84F|KCND3_ENST00000369697.1_Silent_p.F84F	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	84					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F84F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGTCCCGGTCGAAGAAGTACT	0.622																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											125.0	113.0	117.0					1																	112525097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.252C>T	1.37:g.112525097G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.F84	ENST00000315987.2	37	c.252	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000171385		0.622	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	11	0.00	0	G	NM_172198		112525097	112525097	-1	no_errors	ENST00000315987	ensembl	human	known	69_37n	silent	4	63.64	7	SNP	0.747	A
KHSRP	8570	genome.wustl.edu	37	19	6416411	6416411	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr19:6416411A>G	ENST00000398148.3	-	15	1588	c.1496T>C	c.(1495-1497)cTc>cCc	p.L499P	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	499	Ala/Gly/Pro-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.L499P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACTGGGCAGAGAGGACCCTA	0.647																																					Colon(55;593 1006 2067 9135 22980)	dbGAP											1	Substitution - Missense(1)	breast(1)											19.0	21.0	20.0					19																	6416411		1865	4098	5963	-	-	-	SO:0001583	missense	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1496T>C	19.37:g.6416411A>G	ENSP00000381216:p.Leu499Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.L499P	ENST00000398148.3	37	c.1496	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640897	0.47153	.	.	ENSG00000088247	ENST00000398148;ENST00000201886	T	0.48836	0.8	5.41	5.41	0.78517	.	0.128271	0.53938	N	0.000058	T	0.53916	0.1826	L	0.31207	0.915	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	T	0.55792	-0.8085	10	0.51188	T	0.08	.	14.4372	0.67290	1.0:0.0:0.0:0.0	.	499	Q92945	FUBP2_HUMAN	P	499	ENSP00000381216:L499P	ENSP00000201886:L499P	L	-	2	0	KHSRP	6367411	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.403000	0.66338	2.047000	0.60756	0.533000	0.62120	CTC	KHSRP	-	NULL	ENSG00000088247		0.647	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	9	0.00	0	A			6416411	6416411	-1	no_errors	ENST00000398148	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	1.000	G
MAT2A	4144	genome.wustl.edu	37	2	85769379	85769379	+	Silent	SNP	A	A	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr2:85769379A>G	ENST00000306434.3	+	6	774	c.651A>G	c.(649-651)gaA>gaG	p.E217E	MAT2A_ENST00000409017.1_Silent_p.E154E	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	217					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.E217E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTCTTGATGAAATGAGGGATG	0.443																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											131.0	118.0	123.0					2																	85769379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.651A>G	2.37:g.85769379A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.E217	ENST00000306434.3	37	c.651	CCDS1977.1	2																																																																																			MAT2A	-	pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000168906		0.443	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	26	0.00	0	A	NM_005911		85769379	85769379	+1	no_errors	ENST00000306434	ensembl	human	known	69_37n	silent	22	46.34	19	SNP	0.975	G
APEH	327	genome.wustl.edu	37	3	49722303	49722303	+	IGR	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr3:49722303G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.T546M|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.T532M(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCATAGCCCGTGAGAGGCAT	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	41.0	40.0					3																	49722303		2199	4292	6491	-	-	-	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722303G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T546M	ENST00000296456.5	37	c.1637	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940436	0.18281	.	.	ENSG00000173531	ENST00000449682	D	0.88896	-2.44	5.5	-6.04	0.02178	.	1.359990	0.05409	N	0.542101	D	0.85150	0.5631	L	0.48642	1.525	0.09310	N	1	B	0.17465	0.022	B	0.19391	0.025	T	0.69247	-0.5195	10	0.39692	T	0.17	.	15.5487	0.76129	0.119:0.0907:0.7903:0.0	.	546	G3XAK1	.	M	546	ENSP00000414287:T546M	ENSP00000414287:T546M	T	-	2	0	MST1	49697307	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	0.518000	0.22847	-1.219000	0.02597	-1.119000	0.02030	ACG	MST1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000173531		0.572	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	17	0.00	0	G			49722303	49722303	-1	no_errors	ENST00000449682	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.000	A
MYLK	4638	genome.wustl.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A	rs200095645		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr3:123512533G>A	ENST00000475616.1	-	1	155	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000360772.3_Silent_p.F52F|MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16134	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	large_intestine(1)|breast(1)											41.0	42.0	42.0					3																	123512533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.156C>T	3.37:g.123512533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F52	ENST00000475616.1	37	c.156	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000065534		0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	13	0.00	0	G	NM_053025		123512533	123512533	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.999	A
MYT1L	23040	genome.wustl.edu	37	2	2001120	2001120	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr2:2001120C>T	ENST00000399161.2	-	5	591		c.e5-1		MYT1L_ENST00000428368.2_Splice_Site	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		atttctccatctgtaaaatat	0.478																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.158-1G>A	2.37:g.2001120C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Splice_Site	SNP	-	e1-1	ENST00000399161.2	37	c.1-1		2																																																																																			MYT1L	-	-	ENSG00000186487		0.478	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	20	0.00	0	C	NM_015025	Intron	2001120	2001120	-1	no_errors	ENST00000399161	ensembl	human	known	69_37n	splice_site	19	42.42	14	SNP	1.000	T
NAPA	8775	genome.wustl.edu	37	19	47994082	47994082	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr19:47994082G>A	ENST00000263354.3	-	9	997	c.698C>T	c.(697-699)cCa>cTa	p.P233L	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.P194L	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	233					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.P233L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGAGAAAGCTGGGAACAGCTC	0.572																																					Ovarian(185;1135 2042 27703 31345 42493)	dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	47.0	49.0					19																	47994082		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.698C>T	19.37:g.47994082G>A	ENSP00000263354:p.Pro233Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	prints_NSF_attach	p.P233L	ENST00000263354.3	37	c.698	CCDS12702.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412928	0.83449	.	.	ENSG00000105402	ENST00000263354	D	0.81659	-1.52	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.84511	2.7	0.80722	D	1	P	0.47962	0.903	P	0.49887	0.625	D	0.89578	0.3818	10	0.87932	D	0	-3.2039	17.1818	0.86857	0.0:0.0:1.0:0.0	.	233	P54920	SNAA_HUMAN	L	233	ENSP00000263354:P233L	ENSP00000263354:P233L	P	-	2	0	NAPA	52685894	1.000000	0.71417	0.957000	0.39632	0.696000	0.40369	9.227000	0.95236	2.603000	0.88011	0.511000	0.50034	CCA	NAPA	-	prints_NSF_attach	ENSG00000105402		0.572	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	HGNC	protein_coding	OTTHUMT00000466048.2	19	0.00	0	G	NM_003827		47994082	47994082	-1	no_errors	ENST00000263354	ensembl	human	known	69_37n	missense	9	67.86	19	SNP	1.000	A
NEMF	9147	genome.wustl.edu	37	14	50267209	50267209	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr14:50267209C>A	ENST00000298310.5	-	23	2750	c.2301G>T	c.(2299-2301)atG>atT	p.M767I	NEMF_ENST00000545773.1_Missense_Mutation_p.M725I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.M746I			O60524	NEMF_HUMAN	nuclear export mediator factor	767					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.M767I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTCATCCTTCATTTCACCAA	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											157.0	140.0	146.0					14																	50267209		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2301G>T	14.37:g.50267209C>A	ENSP00000298310:p.Met767Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.M767I	ENST00000298310.5	37	c.2301	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853592	0.17106	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.40756	1.03;1.02;1.03;1.03	5.37	2.15	0.27550	.	0.925078	0.09355	N	0.813619	T	0.23649	0.0572	N	0.19112	0.55	0.21553	N	0.999643	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.26052	-1.0114	10	0.37606	T	0.19	0.1401	1.1055	0.01693	0.1528:0.4078:0.1487:0.2906	.	746;742;725;767	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	I	767;725;746;539;725	ENSP00000298310:M767I;ENSP00000438309:M725I;ENSP00000441016:M746I;ENSP00000452540:M725I	ENSP00000298310:M767I	M	-	3	0	NEMF	49336959	0.321000	0.24625	0.514000	0.27761	0.888000	0.51559	0.591000	0.23969	0.123000	0.18342	-0.534000	0.04291	ATG	NEMF	-	NULL	ENSG00000165525		0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	162	0.00	0	C	NM_004713		50267209	50267209	-1	no_errors	ENST00000298310	ensembl	human	known	69_37n	missense	114	45.19	94	SNP	0.358	A
NHLRC3	387921	genome.wustl.edu	37	13	39616426	39616426	+	Silent	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr13:39616426G>A	ENST00000379600.3	+	4	892	c.570G>A	c.(568-570)ttG>ttA	p.L190L	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	190						extracellular vesicular exosome (GO:0070062)		p.L190L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ATAACAGATTGATCAAACTGT	0.303																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											115.0	110.0	112.0					13																	39616426		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.570G>A	13.37:g.39616426G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTZ2|B4DTL0|Q69YI9	Silent	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.L190	ENST00000379600.3	37	c.570	CCDS31961.1	13																																																																																			NHLRC3	-	NULL	ENSG00000188811		0.303	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	190	0.52	1	G	NM_001012754		39616426	39616426	+1	no_errors	ENST00000379600	ensembl	human	known	69_37n	silent	24	77.98	85	SNP	0.994	A
NRXN3	9369	genome.wustl.edu	37	14	80328256	80328256	+	Silent	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr14:80328256G>A	ENST00000557594.1	+	6	2816	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S	NRXN3_ENST00000554719.1_Silent_p.S1045S|NRXN3_ENST00000335750.5_Silent_p.S1045S|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.S416S|NRXN3_ENST00000428277.2_Silent_p.S443S	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	621					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.S443S(1)|p.S1045S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCAGAGCTCGAAGAGCGGCC	0.517																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											78.0	81.0	80.0					14																	80328256		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1863G>A	14.37:g.80328256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1045	ENST00000557594.1	37	c.3135		14																																																																																			NRXN3	-	NULL	ENSG00000021645		0.517	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	28	0.00	0	G	NM_001105250		80328256	80328256	+1	no_errors	ENST00000335750	ensembl	human	known	69_37n	silent	12	52.00	13	SNP	0.092	A
PADI4	23569	genome.wustl.edu	37	1	17668504	17668504	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:17668504T>C	ENST00000375448.4	+	7	745	c.719T>C	c.(718-720)gTc>gCc	p.V240A	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	240					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.V240A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TACCTGATGGTCCCCGGTGGA	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											85.0	78.0	81.0					1																	17668504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.719T>C	1.37:g.17668504T>C	ENSP00000364597:p.Val240Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V240A	ENST00000375448.4	37	c.719	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	t	7.526	0.657669	0.14645	.	.	ENSG00000159339	ENST00000375448	T	0.13089	2.62	4.93	3.72	0.42706	Protein-arginine deiminase (PAD), central domain (2);	0.486750	0.21877	N	0.067783	T	0.09335	0.0230	L	0.29908	0.895	0.09310	N	1	B;B	0.28820	0.224;0.08	B;B	0.31495	0.131;0.067	T	0.30327	-0.9982	10	0.15952	T	0.53	-28.1477	8.083	0.30756	0.0:0.0:0.2054:0.7946	.	240;240	A8K392;Q9UM07	.;PADI4_HUMAN	A	240	ENSP00000364597:V240A	ENSP00000364597:V240A	V	+	2	0	PADI4	17541091	0.047000	0.20315	0.088000	0.20740	0.002000	0.02628	1.435000	0.34969	1.858000	0.53909	0.454000	0.30748	GTC	PADI4	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000159339		0.607	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	15	0.00	0	T	NM_012387		17668504	17668504	+1	no_errors	ENST00000375448	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.001	C
PHF20L1	51105	genome.wustl.edu	37	8	133829783	133829784	+	Frame_Shift_Ins	INS	-	-	G	rs559350407		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr8:133829783_133829784insG	ENST00000395386.2	+	12	1871_1872	c.1572_1573insG	c.(1573-1575)gcafs	p.A525fs	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Frame_Shift_Ins_p.A500fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	525							zinc ion binding (GO:0008270)	p.A525fs*23(1)|p.A499fs*23(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGCTCCAGCAGCAGCAGGTAA	0.386																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1573dupG	8.37:g.133829784_133829784dupG	ENSP00000378784:p.Ala525fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Ins	INS	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.A524fs	ENST00000395386.2	37	c.1572_1573	CCDS6367.2	8																																																																																			PHF20L1	-	NULL	ENSG00000129292		0.386	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	26	0.00	0	-	NM_016018		133829783	133829784	+1	no_errors	ENST00000315808	ensembl	human	known	69_37n	frame_shift_ins	28	24.32	9	INS	0.846:0.842	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, 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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	49	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	1.000	G
RGS12	6002	genome.wustl.edu	37	4	3318059	3318059	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr4:3318059T>G	ENST00000344733.5	+	2	1066	c.162T>G	c.(160-162)gaT>gaG	p.D54E	RGS12_ENST00000543385.1_Missense_Mutation_p.D54E|RGS12_ENST00000336727.3_Missense_Mutation_p.D54E|RGS12_ENST00000382788.3_Missense_Mutation_p.D54E	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	54	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.D54E(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCCTGCGGATTTCGTGGGCC	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	55.0	56.0					4																	3318059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.162T>G	4.37:g.3318059T>G	ENSP00000339381:p.Asp54Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.D54E	ENST00000344733.5	37	c.162	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076125	0.36662	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.56	-7.2	0.01495	PDZ/DHR/GLGF (4);	0.054515	0.64402	D	0.000001	T	0.08935	0.0221	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.30793	0.172;0.295;0.027	B;B;B	0.31946	0.133;0.138;0.055	T	0.13522	-1.0506	10	0.27082	T	0.32	-29.8186	11.5324	0.50618	0.0:0.6143:0.117:0.2687	.	54;54;54	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	E	54	ENSP00000440566:D54E;ENSP00000339381:D54E;ENSP00000338509:D54E;ENSP00000372238:D54E	ENSP00000338509:D54E	D	+	3	2	RGS12	3287857	0.002000	0.14202	0.001000	0.08648	0.847000	0.48162	-0.639000	0.05446	-1.511000	0.01794	0.260000	0.18958	GAT	RGS12	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000159788		0.547	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	11	0.00	0	T	NM_002926		3318059	3318059	+1	no_errors	ENST00000344733	ensembl	human	known	69_37n	missense	9	66.67	18	SNP	0.002	G
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	dbGAP		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1	34	0.00	0	T	NM_000983		6257785	6257785	-1	no_errors	ENST00000234875	ensembl	human	known	69_37n	frame_shift_del	37	33.33	19	DEL	1.000	-
RPS20	6224	genome.wustl.edu	37	8	56985781	56985781	+	Silent	SNP	C	C	G	rs540124601	byFrequency	TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr8:56985781C>G	ENST00000521262.1	-	4	481	c.228G>C	c.(226-228)acG>acC	p.T76T	RPS20_ENST00000524349.1_Silent_p.T21T|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000520627.1_Silent_p.T21T|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000519807.1_Silent_p.T76T|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000009589.3_Silent_p.T76T			P60866	RS20_HUMAN	ribosomal protein S20	76					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T76T(2)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			AACGATCCCACGTCTTAGAAC	0.398																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											107.0	111.0	110.0					8																	56985781		2059	3960	6019	-	-	-	SO:0001819	synonymous_variant	0			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.228G>C	8.37:g.56985781C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4F4|B4DW28|P17075|Q5M8S9	Silent	SNP	pfam_Ribosomal_S10,superfamily_Ribosomal_S10,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc	p.T76	ENST00000521262.1	37	c.228		8																																																																																			RPS20	-	pfam_Ribosomal_S10,superfamily_Ribosomal_S10,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc	ENSG00000008988		0.398	RPS20-003	KNOWN	basic|appris_principal	protein_coding	RPS20	HGNC	protein_coding	OTTHUMT00000378166.1	96	0.00	0	C	NM_001023		56985781	56985781	-1	no_errors	ENST00000009589	ensembl	human	known	69_37n	silent	47	55.96	61	SNP	0.579	G
SATB1	6304	genome.wustl.edu	37	3	18390811	18390811	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr3:18390811C>T	ENST00000338745.6	-	11	3877	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.D747N|SATB1_ENST00000454909.2_Missense_Mutation_p.D715N	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	715					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D715N(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCTGCCACATCGACCTCTAAA	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											195.0	198.0	197.0					3																	18390811		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2143G>A	3.37:g.18390811C>T	ENSP00000341024:p.Asp715Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D715N	ENST00000338745.6	37	c.2143	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509058	0.64410	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.52983	0.68;0.68;0.64	5.61	5.61	0.85477	.	0.233413	0.41938	D	0.000786	T	0.47764	0.1463	L	0.27053	0.805	0.80722	D	1	B;D	0.58970	0.108;0.984	B;P	0.49047	0.014;0.599	T	0.51044	-0.8755	10	0.72032	D	0.01	-9.098	19.6379	0.95744	0.0:1.0:0.0:0.0	.	747;715	Q01826-2;Q01826	.;SATB1_HUMAN	N	715;715;747	ENSP00000341024:D715N;ENSP00000399708:D715N;ENSP00000399518:D747N	ENSP00000341024:D715N	D	-	1	0	SATB1	18365815	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.504000	0.81646	2.657000	0.90304	0.655000	0.94253	GAT	SATB1	-	NULL	ENSG00000182568		0.433	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	77	0.00	0	C	NM_001131010		18390811	18390811	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	1.000	T
SLC13A5	284111	genome.wustl.edu	37	17	6590917	6590918	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr17:6590917_6590918insA	ENST00000433363.2	-	11	1738_1739	c.1505_1506insT	c.(1504-1506)ttcfs	p.F502fs	SLC13A5_ENST00000573648.1_Intron|SLC13A5_ENST00000293800.6_Frame_Shift_Ins_p.F485fs|SLC13A5_ENST00000381074.4_Frame_Shift_Ins_p.F459fs	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	502					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)	p.M503fs*22(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGCAACATGAAGGCAAAGGA	0.535																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1506dupT	17.37:g.6590919_6590919dupA	ENSP00000406220:p.Phe502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Frame_Shift_Ins	INS	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.M503fs	ENST00000433363.2	37	c.1506_1505	CCDS11079.1	17																																																																																			SLC13A5	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000141485		0.535	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	24	0.00	0	-	NM_177550		6590917	6590918	-1	no_errors	ENST00000433363	ensembl	human	known	69_37n	frame_shift_ins	21	50.00	21	INS	1.000:1.000	A
SMOC2	64094	genome.wustl.edu	37	6	169053691	169053691	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr6:169053691C>A	ENST00000356284.2	+	11	1288	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	SMOC2_ENST00000354536.5_Missense_Mutation_p.F367L	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	356	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.F367L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACTGGTACTTCAAACTACTGG	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	58.0	58.0					6																	169053691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1068C>A	6.37:g.169053691C>A	ENSP00000348630:p.Phe356Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.F367L	ENST00000356284.2	37	c.1101	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260187	0.59321	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593	T;T	0.68025	-0.21;-0.3	4.83	4.83	0.62350	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	M	0.81497	2.545	0.58432	D	0.999999	P;D	0.76494	0.95;0.999	P;D	0.80764	0.874;0.994	T	0.80324	-0.1430	10	0.46703	T	0.11	-0.5082	16.9285	0.86183	0.0:1.0:0.0:0.0	.	356;367	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	L	356;367;356;33;33	ENSP00000348630:F356L;ENSP00000346537:F367L	ENSP00000346537:F367L	F	+	3	2	SMOC2	168795616	1.000000	0.71417	0.993000	0.49108	0.404000	0.30871	2.294000	0.43567	2.208000	0.71279	0.655000	0.94253	TTC	SMOC2	-	pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_HAND_2	ENSG00000112562		0.493	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	47	0.00	0	C			169053691	169053691	+1	no_errors	ENST00000354536	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	A
SPP2	6694	genome.wustl.edu	37	2	234959682	234959682	+	Silent	SNP	G	G	T			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr2:234959682G>T	ENST00000168148.3	+	2	241	c.153G>T	c.(151-153)gtG>gtT	p.V51V	SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.V51V	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	51					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)	p.V51V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TGGTAAAAGTGAATTCCCAGT	0.478																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											126.0	107.0	113.0					2																	234959682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.153G>T	2.37:g.234959682G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMV3|Q3B892|Q546M5	Silent	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.V51	ENST00000168148.3	37	c.153	CCDS2511.1	2																																																																																			SPP2	-	pfam_Prot_inh_cystat	ENSG00000072080		0.478	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	44	0.00	0	G	NM_006944		234959682	234959682	+1	no_errors	ENST00000168148	ensembl	human	known	69_37n	silent	33	47.62	30	SNP	0.995	T
SYVN1	84447	genome.wustl.edu	37	11	64897543	64897543	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr11:64897543C>G	ENST00000377190.3	-	13	1433	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.E446Q|SYVN1_ENST00000307289.6_Missense_Mutation_p.E395Q|SYVN1_ENST00000526060.1_Missense_Mutation_p.E446Q	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	447	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.E447Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GGGCCAGCCTCTGGGGCAGAG	0.632																																						dbGAP											1	Substitution - Missense(1)	breast(1)											27.0	29.0	29.0					11																	64897543		2200	4297	6497	-	-	-	SO:0001583	missense	0			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1339G>C	11.37:g.64897543C>G	ENSP00000366395:p.Glu447Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E447Q	ENST00000377190.3	37	c.1339	CCDS31605.1	11	.	.	.	.	.	.	.	.	.	.	C	0.511	-0.866316	0.02590	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.09445	2.98;2.98;3.15;2.98	4.63	4.63	0.57726	.	0.570706	0.16943	N	0.193208	T	0.05914	0.0154	N	0.25647	0.755	0.09310	N	1	P;P;P	0.40619	0.724;0.724;0.604	B;B;B	0.26310	0.068;0.068;0.031	T	0.31916	-0.9926	10	0.11485	T	0.65	-2.0149	12.8365	0.57775	0.0:1.0:0.0:0.0	.	395;446;447	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	Q	447;446;447;395;446	ENSP00000366395:E447Q;ENSP00000294256:E446Q;ENSP00000302035:E395Q;ENSP00000436984:E446Q	ENSP00000294256:E446Q	E	-	1	0	SYVN1	64654119	0.817000	0.29147	0.012000	0.15200	0.246000	0.25737	2.703000	0.47110	2.404000	0.81709	0.561000	0.74099	GAG	SYVN1	-	NULL	ENSG00000162298		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	10	0.00	0	C	NM_032431		64897543	64897543	-1	no_errors	ENST00000377190	ensembl	human	known	69_37n	missense	8	50.00	9	SNP	0.043	G
TAS2R16	50833	genome.wustl.edu	37	7	122635425	122635425	+	Frame_Shift_Del	DEL	A	A	-	rs138543801		TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr7:122635425delA	ENST00000249284.2	-	1	329	c.264delT	c.(262-264)tttfs	p.F88fs		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	88					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAAGGATATTAAAAAATTCCC	0.388																																						dbGAP											0													58.0	61.0	60.0					7																	122635425		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.264delT	7.37:g.122635425delA	ENSP00000249284:p.Phe88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X2|Q502V3|Q549U8|Q645W1	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.F88fs	ENST00000249284.2	37	c.264	CCDS5785.1	7																																																																																			TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.388	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	76	0.00	0	A	NM_016945		122635425	122635425	-1	no_errors	ENST00000249284	ensembl	human	known	69_37n	frame_shift_del	55	35.29	30	DEL	0.000	-
TTN	7273	genome.wustl.edu	37	2	179427225	179427225	+	Silent	SNP	A	A	G			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr2:179427225A>G	ENST00000591111.1	-	276	78935	c.78711T>C	c.(78709-78711)aaT>aaC	p.N26237N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.N18813N|TTN_ENST00000359218.5_Silent_p.N18938N|TTN_ENST00000342992.6_Silent_p.N25310N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.N27878N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.N19005N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26237	Fibronectin type-III 91. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N18938N(1)|p.N25310N(1)|p.N19005N(1)|p.N18813N(1)|p.N25308N(1)		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)			TTGTAGCTGTATTACGGGTCA	0.443																																						dbGAP											5	Substitution - coding silent(5)	breast(5)											68.0	67.0	67.0					2																	179427225		1900	4129	6029	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78711T>C	2.37:g.179427225A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N25310	ENST00000591111.1	37	c.75930		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	66	0.00	0	A	NM_133378		179427225	179427225	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	47	47.78	43	SNP	0.981	G
VWA5B2	90113	genome.wustl.edu	37	3	183956482	183956482	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr3:183956482G>A	ENST00000426955.2	+	13	2123	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	EIF2B5_ENST00000444495.1_Intron|VWA5B2_ENST00000273794.5_Missense_Mutation_p.E457K|MIR1224_ENST00000408193.1_RNA	NM_138345.1	NP_612354.1	Q8N398	VW5B2_HUMAN	von Willebrand factor A domain containing 5B2	686								p.E675K(1)		breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						TGCCAGCCCCGAGCCAGGCCC	0.647																																						dbGAP											1	Substitution - Missense(1)	breast(1)											30.0	31.0	30.0					3																	183956482		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54686.1	3q27.1	2008-07-25	2008-07-25		ENSG00000145198	ENSG00000145198			25144	protein-coding gene	gene with protein product						15231747	Standard	NM_138345		Approved	DKFZp761K032, LOC90113	uc011bra.2	Q8N398	OTTHUMG00000156820	ENST00000426955.2:c.2023G>A	3.37:g.183956482G>A	ENSP00000398688:p.Glu675Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGN7	Missense_Mutation	SNP	NULL	p.E675K	ENST00000426955.2	37	c.2023	CCDS54686.1	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821862	0.90873	.	.	ENSG00000145198	ENST00000426955;ENST00000273794	T;T	0.22336	2.69;1.96	4.78	4.78	0.61160	.	0.000000	0.49916	D	0.000128	T	0.42539	0.1207	L	0.56769	1.78	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.958;0.958;0.958	T	0.20405	-1.0276	10	0.54805	T	0.06	.	16.9288	0.86184	0.0:0.0:1.0:0.0	.	457;675;686	E9PF42;B9EGN7;Q8N398	.;.;VW5B2_HUMAN	K	675;457	ENSP00000398688:E675K;ENSP00000273794:E457K	ENSP00000273794:E457K	E	+	1	0	VWA5B2	185439176	1.000000	0.71417	0.959000	0.39883	0.962000	0.63368	5.601000	0.67606	2.644000	0.89710	0.563000	0.77884	GAG	VWA5B2	-	NULL	ENSG00000145198		0.647	VWA5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5B2	HGNC	protein_coding	OTTHUMT00000346004.2	11	0.00	0	G	XM_291077		183956482	183956482	+1	no_errors	ENST00000426955	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	0.998	A
XPO7	23039	genome.wustl.edu	37	8	21844661	21844661	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0X5-01A-21D-A10G-09	TCGA-B6-A0X5-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	da42f10b-d515-4678-a038-ed9c92a8b56b	3ff1b637-7389-4e74-9e63-01642df895f4	g.chr8:21844661G>T	ENST00000252512.9	+	14	1687	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	XPO7_ENST00000434536.1_Missense_Mutation_p.Q538H|XPO7_ENST00000433566.4_Missense_Mutation_p.Q530H	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	529					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.Q529H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGGTGCTCCAGCTGATGAACC	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											168.0	170.0	170.0					8																	21844661		1994	4162	6156	-	-	-	SO:0001583	missense	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1587G>T	8.37:g.21844661G>T	ENSP00000252512:p.Gln529His	Somatic		WXS	Illumina GAIIx	Phase_IV	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q538H	ENST00000252512.9	37	c.1614	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664331	0.67700	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.68331	-0.32;-0.32;-0.32	5.78	4.91	0.64330	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.94;0.94	D	0.85220	0.1026	10	0.56958	D	0.05	-12.6644	14.6604	0.68868	0.0703:0.0:0.9297:0.0	.	530;538;529	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	H	538;529;530	ENSP00000404853:Q538H;ENSP00000252512:Q529H;ENSP00000410249:Q530H	ENSP00000252512:Q529H	Q	+	3	2	XPO7	21900607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.581000	0.74045	1.447000	0.47661	0.655000	0.94253	CAG	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.468	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	37	0.00	0	G	NM_015024		21844661	21844661	+1	no_errors	ENST00000434536	ensembl	human	known	69_37n	missense	4	81.82	18	SNP	1.000	T
