#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
AHCYL2	23382	genome.wustl.edu	37	7	129008388	129008388	+	Intron	SNP	G	G	C			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr7:129008388G>C	ENST00000325006.3	+	2	417				AHCYL2_ENST00000531335.2_Intron|AHCYL2_ENST00000474594.1_Missense_Mutation_p.W18S|AHCYL2_ENST00000446212.1_Missense_Mutation_p.W18S|AHCYL2_ENST00000446544.2_Intron	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2						one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGCCTGAGTGGATGGTGAGT	0.483											OREG0018307	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(160;1736 1964 29875 40941 45605)	dbGAP											0													240.0	213.0	222.0					7																	129008388		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.364-11091G>C	7.37:g.129008388G>C		Somatic	1569	WXS	Illumina GAIIx	Phase_IV	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.W18S	ENST00000325006.3	37	c.53	CCDS5812.1	7	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575848	0.45902	.	.	ENSG00000158467	ENST00000460109;ENST00000474594;ENST00000446212	T;T	0.75477	-0.93;-0.94	6.03	6.03	0.97812	.	.	.	.	.	T	0.68842	0.3045	N	0.08118	0	0.48762	D	0.999701	P;B	0.50156	0.932;0.0	P;B	0.55391	0.775;0.0	T	0.67300	-0.5705	9	0.22109	T	0.4	.	17.2925	0.87160	0.0:0.0:1.0:0.0	.	18;18	D7UEQ7;D9N155	.;.	S	18	ENSP00000420459:W18S;ENSP00000405267:W18S	ENSP00000405267:W18S	W	+	2	0	AHCYL2	128795624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.530000	0.67141	2.868000	0.98415	0.555000	0.69702	TGG	AHCYL2	-	NULL	ENSG00000158467		0.483	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	641	0.00	0	G			129008388	129008388	+1	no_errors	ENST00000446212	ensembl	human	known	69_37n	missense	261	53.31	298	SNP	1.000	C
ARMC8	25852	genome.wustl.edu	37	3	137991869	137991869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr3:137991869delG	ENST00000469044.1	+	17	1811	c.1540delG	c.(1540-1542)gaafs	p.E514fs	ARMC8_ENST00000481646.1_Frame_Shift_Del_p.E500fs|ARMC8_ENST00000393058.3_Frame_Shift_Del_p.E504fs|ARMC8_ENST00000461822.1_Frame_Shift_Del_p.E447fs|ARMC8_ENST00000485396.1_Frame_Shift_Del_p.E441fs|ARMC8_ENST00000491704.1_Frame_Shift_Del_p.E472fs|NME9_ENST00000383180.2_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000538260.1_Frame_Shift_Del_p.E483fs|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	514										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGAGTACTGAACAGCTATT	0.353																																						dbGAP											0													107.0	100.0	102.0					3																	137991869		1815	4083	5898	-	-	-	SO:0001589	frameshift_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1540delG	3.37:g.137991869delG	ENSP00000419413:p.Glu514fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E514fs	ENST00000469044.1	37	c.1540		3																																																																																			ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114098		0.353	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	312	0.00	0	G	NM_015396		137991869	137991869	+1	no_errors	ENST00000469044	ensembl	human	known	69_37n	frame_shift_del	285	19.05	68	DEL	1.000	-
BEND2	139105	genome.wustl.edu	37	X	18234761	18234761	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chrX:18234761T>A	ENST00000380033.4	-	2	250	c.118A>T	c.(118-120)Aat>Tat	p.N40Y	BEND2_ENST00000380030.3_Missense_Mutation_p.N40Y	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	40										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCTATGTCATTAGTGGAATTA	0.403																																						dbGAP											0													226.0	175.0	192.0					X																	18234761		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.118A>T	X.37:g.18234761T>A	ENSP00000369372:p.Asn40Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.N40Y	ENST00000380033.4	37	c.118	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.355279	0.01256	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.25414	1.83;1.8	0.956	-1.91	0.07641	.	17.446800	0.00357	N	0.000038	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.33583	0.296;0.418	B;B	0.15052	0.012;0.012	T	0.15350	-1.0440	10	0.72032	D	0.01	.	3.6706	0.08272	0.0:0.2486:0.3814:0.37	.	40;40	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	Y	40	ENSP00000369372:N40Y;ENSP00000369369:N40Y	ENSP00000369369:N40Y	N	-	1	0	BEND2	18144682	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	-2.932000	0.00300	-2.638000	0.00152	AAT	BEND2	-	NULL	ENSG00000177324		0.403	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	552	0.00	0	T	NM_153346		18234761	18234761	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	missense	514	19.06	121	SNP	0.000	A
CACTIN	58509	genome.wustl.edu	37	19	3620765	3620765	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr19:3620765C>G	ENST00000429344.2	-	3	730	c.678G>C	c.(676-678)gaG>gaC	p.E226D	CACTIN_ENST00000248420.5_Missense_Mutation_p.E226D|CACTIN_ENST00000221899.3_Missense_Mutation_p.E158D	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	226					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCAGCTCCTTCTCCTCCAGGT	0.657																																						dbGAP											0													85.0	97.0	93.0					19																	3620765		2083	4197	6280	-	-	-	SO:0001583	missense	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.678G>C	19.37:g.3620765C>G	ENSP00000415078:p.Glu226Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.E158D	ENST00000429344.2	37	c.474	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974500	0.34848	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.13	-0.905	0.10527	.	0.190049	0.43110	N	0.000608	T	0.28101	0.0693	L	0.45285	1.41	0.41544	D	0.988531	B;P	0.44478	0.068;0.836	B;B	0.36666	0.054;0.23	T	0.12016	-1.0564	9	0.19590	T	0.45	.	6.0533	0.19796	0.0:0.6189:0.1351:0.246	.	226;226	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	D	226;226;158	.	ENSP00000221899:E158D	E	-	3	2	C19orf29	3571765	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.217000	0.32455	0.037000	0.15575	-0.224000	0.12420	GAG	CACTIN	-	NULL	ENSG00000105298		0.657	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	136	0.00	0	C			3620765	3620765	-1	no_errors	ENST00000221899	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	0.996	G
CA11	770	genome.wustl.edu	37	19	49142211	49142211	+	Silent	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr19:49142211G>A	ENST00000084798.4	-	8	1574	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	DBP_ENST00000601104.1_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	299						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TTGCCCCTCAGTGCCCTGTGG	0.647																																						dbGAP											0													22.0	23.0	22.0					19																	49142211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.895C>T	19.37:g.49142211G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60596|Q6FHI1|Q9UEC4	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L299	ENST00000084798.4	37	c.895	CCDS12729.1	19																																																																																			CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.647	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	65	0.00	0	G	NM_001217		49142211	49142211	-1	no_errors	ENST00000084798	ensembl	human	known	69_37n	silent	33	48.44	31	SNP	0.935	A
CASP8AP2	9994	genome.wustl.edu	37	6	90578074	90578074	+	RNA	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr6:90578074G>A	ENST00000551025.1	+	0	6502									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAACGAAAGATCCAGTCAC	0.388																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													53.0	54.0	54.0					6																	90578074		1862	4095	5957	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578074G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		168	0.00	0	G	NM_001137667		90578074	90578074	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	113	37.22	67	SNP	0.005	A
CCT8	10694	genome.wustl.edu	37	21	30445874	30445874	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr21:30445874T>A	ENST00000286788.4	-	1	244	c.38A>T	c.(37-39)cAg>cTg	p.Q13L	CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_5'Flank|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	13					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CTTGAGCATCTGGGCAAAGCC	0.642																																						dbGAP											0													95.0	83.0	87.0					21																	30445874		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.38A>T	21.37:g.30445874T>A	ENSP00000286788:p.Gln13Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Nonsense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1	p.R5*	ENST00000286788.4	37	c.13	CCDS33528.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.2|28.2	4.900366|4.900366	0.92035|0.92035	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788|ENST00000431234	T|.	0.71341|.	-0.56|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75496|.	0.3857|.	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	B;B;B|.	0.12630|.	0.003;0.006;0.0|.	B;B;B|.	0.15052|.	0.005;0.012;0.0|.	T|.	0.77715|.	-0.2484|.	10|.	0.09843|.	T|.	0.71|.	-7.7804|-7.7804	13.9348|13.9348	0.64020|0.64020	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	13;13;13|.	Q53HU0;G5E9B2;P50990|.	.;.;TCPQ_HUMAN|.	L|X	13|5	ENSP00000286788:Q13L|.	ENSP00000286788:Q13L|.	Q|R	-|-	2|1	0|2	CCT8|CCT8	29367745|29367745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.255000|7.255000	0.78338|0.78338	1.945000|1.945000	0.56424|0.56424	0.533000|0.533000	0.62120|0.62120	CAG|AGA	CCT8	-	NULL	ENSG00000156261		0.642	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	219	0.00	0	T			30445874	30445874	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000431234	ensembl	human	putative	69_37n	nonsense	105	47.55	97	SNP	1.000	A
CNGA2	1260	genome.wustl.edu	37	X	150912895	150912895	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chrX:150912895G>A	ENST00000329903.4	+	6	1953	c.1920G>A	c.(1918-1920)atG>atA	p.M640I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	640					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAACCAAGATGAAACAGAACA	0.552																																						dbGAP											0													97.0	85.0	89.0					X																	150912895		2203	4300	6503	-	-	-	SO:0001583	missense	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1920G>A	X.37:g.150912895G>A	ENSP00000328478:p.Met640Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.M640I	ENST00000329903.4	37	c.1920	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293212	0.23564	.	.	ENSG00000183862	ENST00000329903	D	0.97016	-4.21	5.5	5.5	0.81552	.	0.158195	0.64402	D	0.000018	D	0.92848	0.7725	L	0.40543	1.245	0.31053	N	0.714971	B	0.02656	0.0	B	0.01281	0.0	D	0.89383	0.3683	10	0.36615	T	0.2	.	10.8688	0.46870	0.0:0.0:0.8122:0.1878	.	640	Q16280	CNGA2_HUMAN	I	640	ENSP00000328478:M640I	ENSP00000328478:M640I	M	+	3	0	CNGA2	150663551	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.963000	0.49184	2.297000	0.77311	0.529000	0.55759	ATG	CNGA2	-	NULL	ENSG00000183862		0.552	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	150	0.00	0	G	NM_005140		150912895	150912895	+1	no_errors	ENST00000329903	ensembl	human	known	69_37n	missense	105	13.22	16	SNP	1.000	A
COL27A1	85301	genome.wustl.edu	37	9	117071730	117071730	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr9:117071730G>A	ENST00000356083.3	+	60	5799	c.5408G>A	c.(5407-5409)cGg>cAg	p.R1803Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1803	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGTCAGTTCCGGCCCGAGGTG	0.572																																						dbGAP											0													39.0	39.0	39.0					9																	117071730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5408G>A	9.37:g.117071730G>A	ENSP00000348385:p.Arg1803Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.R1803Q	ENST00000356083.3	37	c.5408	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632264	0.67015	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.73152	-0.72	6.06	2.82	0.32997	Fibrillar collagen, C-terminal (4);	.	.	.	.	T	0.54095	0.1837	L	0.35487	1.065	0.30661	N	0.754342	B;B	0.30114	0.269;0.039	B;B	0.22753	0.041;0.005	T	0.51926	-0.8643	9	0.28530	T	0.3	.	8.1512	0.31141	0.336:0.0:0.664:0.0	.	118;1803	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	Q	1803;1810	ENSP00000348385:R1803Q	ENSP00000348385:R1803Q	R	+	2	0	COL27A1	116111551	0.836000	0.29430	1.000000	0.80357	0.987000	0.75469	1.491000	0.35583	0.898000	0.36418	0.655000	0.94253	CGG	COL27A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000196739		0.572	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	67	0.00	0	G	NM_032888		117071730	117071730	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	47	33.33	24	SNP	1.000	A
EDNRA	1909	genome.wustl.edu	37	4	148441015	148441015	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr4:148441015C>T	ENST00000324300.5	+	3	948	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_Intron|EDNRA_ENST00000511804.1_5'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	145					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R145C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCTGGCTGGGCGCTGGCCTTT	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											185.0	175.0	178.0					4																	148441015		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.433C>T	4.37:g.148441015C>T	ENSP00000315011:p.Arg145Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt,prints_Endthln_rcpt,prints_7TM_GPCR_Rhodpsn	p.R145C	ENST00000324300.5	37	c.433	CCDS3769.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272381	0.80580	.	.	ENSG00000151617	ENST00000394047;ENST00000324300	T	0.73258	-0.73	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.177383	0.47455	D	0.000228	T	0.74176	0.3682	L	0.35542	1.07	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.76130	-0.3072	10	0.62326	D	0.03	-21.6369	13.7579	0.62948	0.1543:0.8457:0.0:0.0	.	145	P25101	EDNRA_HUMAN	C	145	ENSP00000315011:R145C	ENSP00000315011:R145C	R	+	1	0	EDNRA	148660465	0.433000	0.25562	0.996000	0.52242	0.991000	0.79684	1.072000	0.30678	2.572000	0.86782	0.591000	0.81541	CGC	EDNRA	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ETA_rcpt	ENSG00000151617		0.517	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	275	0.00	0	C			148441015	148441015	+1	no_errors	ENST00000324300	ensembl	human	known	69_37n	missense	264	37.00	158	SNP	0.998	T
FAM86C2P	645332	genome.wustl.edu	37	11	67564293	67564293	+	RNA	SNP	T	T	A	rs117919932	byFrequency	TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr11:67564293T>A	ENST00000528089.1	-	0	847							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene									p.I57I(1)									GCTTCTGGGCTATACAGCACG	0.617													.|||	1498	0.299121	0.4554	0.2133	5008	,	,		13580	0.1964		0.3211	False		,,,				2504	0.2321					dbGAP											1	Substitution - coding silent(1)	endometrium(1)																																								-	-	-			0					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564293T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-	ENSG00000160172		0.617	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	27	0.00	0	T			67564293	67564293	-1	no_errors	ENST00000525180	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	0.706	A
FERMT2	10979	genome.wustl.edu	37	14	53325259	53325259	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr14:53325259C>G	ENST00000395631.2	-	15	2095	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	FERMT2_ENST00000341590.3_Missense_Mutation_p.E627Q|FERMT2_ENST00000553373.1_Missense_Mutation_p.E634Q|FERMT2_ENST00000343279.4_Missense_Mutation_p.E634Q|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	627	FERM.				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)					TCTGCAAACTCTACGGTGACC	0.433																																						dbGAP											0													109.0	96.0	101.0					14																	53325259		2203	4300	6503	-	-	-	SO:0001583	missense	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.1879G>C	14.37:g.53325259C>G	ENSP00000378993:p.Glu627Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E634Q	ENST00000395631.2	37	c.1900	CCDS9713.1	14	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448417	0.43429	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	6.02	6.02	0.97574	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.31526	0.94	0.80722	D	1	D;P	0.89917	1.0;0.952	D;P	0.87578	0.998;0.677	T	0.13845	-1.0494	10	0.08837	T	0.75	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	627;634	Q96AC1;B5TJY2	FERM2_HUMAN;.	Q	627;627;587;634;634	ENSP00000378993:E627Q;ENSP00000340391:E627Q;ENSP00000450741:E587Q;ENSP00000342858:E634Q;ENSP00000451084:E634Q	ENSP00000340391:E627Q	E	-	1	0	FERMT2	52395009	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	7.796000	0.85898	2.857000	0.98124	0.650000	0.86243	GAG	FERMT2	-	NULL	ENSG00000073712		0.433	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	238	0.00	0	C	NM_006832		53325259	53325259	-1	no_errors	ENST00000343279	ensembl	human	known	69_37n	missense	194	22.31	56	SNP	1.000	G
GRAMD1B	57476	genome.wustl.edu	37	11	123448232	123448232	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr11:123448232G>A	ENST00000529750.1	+	2	508	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.V61M|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.V61M	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	61						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GGAGCAGGGCGTGCAGCGCAG	0.672											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.181G>A	11.37:g.123448232G>A	ENSP00000436500:p.Val61Met	Somatic	1526	WXS	Illumina GAIIx	Phase_IV	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.V61M	ENST00000529750.1	37	c.181	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850057	0.91277	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.34072	1.79;1.83;1.83;1.83;1.38	4.92	4.92	0.64577	.	0.126603	0.52532	D	0.000065	T	0.47377	0.1442	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;D;P;P	0.76071	0.987;0.966;0.808;0.862	T	0.48198	-0.9056	10	0.44086	T	0.13	.	18.1148	0.89549	0.0:0.0:1.0:0.0	.	21;61;61;61	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	M	61;61;61;61;21;57	ENSP00000402457:V61M;ENSP00000325628:V61M;ENSP00000436500:V61M;ENSP00000432987:V21M;ENSP00000434214:V57M	ENSP00000325628:V61M	V	+	1	0	GRAMD1B	122953442	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	7.549000	0.82163	2.275000	0.75901	0.462000	0.41574	GTG	GRAMD1B	-	NULL	ENSG00000023171		0.672	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	34	0.00	0	G	XM_370660		123448232	123448232	+1	no_errors	ENST00000322282	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	A
IFIT5	24138	genome.wustl.edu	37	10	91178167	91178167	+	Nonsense_Mutation	SNP	T	T	G			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr10:91178167T>G	ENST00000371795.4	+	2	1424	c.1211T>G	c.(1210-1212)tTa>tGa	p.L404*	IFIT5_ENST00000416601.1_Nonsense_Mutation_p.L356*	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	404					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TTAGAAGCCTTAAAGGTCAAA	0.413																																						dbGAP											0													91.0	85.0	87.0					10																	91178167		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1211T>G	10.37:g.91178167T>G	ENSP00000360860:p.Leu404*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L404*	ENST00000371795.4	37	c.1211	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	T	36	5.946289	0.97134	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	.	.	.	6.17	6.17	0.99709	.	0.222920	0.38959	N	0.001516	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7144	16.0034	0.80327	0.0:0.0:0.0:1.0	.	.	.	.	X	404;356	.	ENSP00000360860:L404X	L	+	2	0	IFIT5	91168147	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	3.693000	0.54735	2.371000	0.80710	0.533000	0.62120	TTA	IFIT5	-	NULL	ENSG00000152778		0.413	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1	333	0.00	0	T	NM_012420		91178167	91178167	+1	no_errors	ENST00000371795	ensembl	human	known	69_37n	nonsense	260	23.08	78	SNP	0.790	G
ITK	3702	genome.wustl.edu	37	5	156659362	156659362	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr5:156659362G>T	ENST00000422843.3	+	8	878	c.726G>T	c.(724-726)aaG>aaT	p.K242N	AC010609.1_ENST00000410154.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	242	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGTACAATAAGAGTATCAGCC	0.318			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	dbGAP		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													61.0	57.0	59.0					5																	156659362		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.726G>T	5.37:g.156659362G>T	ENSP00000398655:p.Lys242Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K242N	ENST00000422843.3	37	c.726	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407199	0.62399	.	.	ENSG00000113263	ENST00000422843	T	0.25749	1.78	5.28	3.47	0.39725	Src homology-3 domain (1);SH2 motif (5);	0.092615	0.64402	D	0.000001	T	0.50000	0.1590	M	0.88512	2.96	0.50039	D	0.99984	D	0.69078	0.997	D	0.65874	0.939	T	0.49826	-0.8898	10	0.33141	T	0.24	.	9.0213	0.36202	0.1745:0.0:0.8255:0.0	.	242	Q08881	ITK_HUMAN	N	242	ENSP00000398655:K242N	ENSP00000398655:K242N	K	+	3	2	ITK	156591940	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.290000	0.33319	0.700000	0.31782	0.563000	0.77884	AAG	ITK	-	pfam_SH2,superfamily_SH3_domain,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000113263		0.318	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	108	0.00	0	G			156659362	156659362	+1	no_errors	ENST00000422843	ensembl	human	known	69_37n	missense	73	47.48	66	SNP	1.000	T
LIM2	3982	genome.wustl.edu	37	19	51890455	51890455	+	Intron	SNP	T	T	A	rs369077326		TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr19:51890455T>A	ENST00000596399.1	-	2	223				LIM2_ENST00000221973.3_Silent_p.G81G	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa						cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		aaTACAGGTGTCCTTGGGCCC	0.627																																						dbGAP											0													50.0	47.0	48.0					19																	51890455		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.175+67A>T	19.37:g.51890455T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B083|Q9BXD0|Q9HAR5	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.G81	ENST00000596399.1	37	c.243	CCDS59415.1	19																																																																																			LIM2	-	NULL	ENSG00000105370		0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1	101	0.00	0	T	NM_030657		51890455	51890455	-1	no_errors	ENST00000221973	ensembl	human	known	69_37n	silent	67	20.93	18	SNP	0.000	A
LPA	4018	genome.wustl.edu	37	6	161016385	161016385	+	Splice_Site	SNP	C	C	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr6:161016385C>T	ENST00000316300.5	-	21	3514		c.e21+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGACTTCCTACCTTCTTCAGA	0.478																																						dbGAP											0													145.0	141.0	142.0					6																	161016385		1970	4182	6152	-	-	-	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3469+1G>A	6.37:g.161016385C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Splice_Site	SNP	-	e21+1	ENST00000316300.5	37	c.3469+1	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597403	0.28445	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.14	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7922	0.18367	0.0:0.6588:0.3412:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160936375	0.993000	0.37304	0.046000	0.18839	0.498000	0.33706	3.120000	0.50430	1.167000	0.42706	0.205000	0.17691	.	LPA	-	-	ENSG00000198670		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	247	0.00	0	C	NM_005577	Intron	161016385	161016385	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	splice_site	183	35.21	100	SNP	0.004	T
MMP19	4327	genome.wustl.edu	37	12	56236540	56236540	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr12:56236540C>A	ENST00000322569.4	-	1	166	c.75G>T	c.(73-75)gaG>gaT	p.E25D	MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000409200.3_Missense_Mutation_p.E25D|MMP19_ENST00000548629.1_Missense_Mutation_p.E25D	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	25					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	CAGGCGCCACCTCTGCAAGCC	0.632																																						dbGAP											0													18.0	19.0	19.0					12																	56236540		2203	4299	6502	-	-	-	SO:0001583	missense	0			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.75G>T	12.37:g.56236540C>A	ENSP00000313437:p.Glu25Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.E25D	ENST00000322569.4	37	c.75	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568660	0.45798	.	.	ENSG00000123342	ENST00000322569;ENST00000548629;ENST00000409200	T;T;T	0.35421	2.38;2.21;1.31	5.16	0.949	0.19566	.	3.061680	0.00980	N	0.003363	T	0.19248	0.0462	N	0.08118	0	0.27292	N	0.957805	B;B	0.21225	0.053;0.001	B;B	0.16722	0.016;0.001	T	0.14811	-1.0459	10	0.23891	T	0.37	.	3.6739	0.08284	0.1812:0.5369:0.0:0.2819	.	25;25	B4E030;Q99542	.;MMP19_HUMAN	D	25	ENSP00000313437:E25D;ENSP00000446979:E25D;ENSP00000386625:E25D	ENSP00000313437:E25D	E	-	3	2	MMP19	54522807	0.019000	0.18553	0.814000	0.32528	0.105000	0.19272	0.281000	0.18810	0.345000	0.23873	0.603000	0.83216	GAG	MMP19	-	pirsf_Pept_M10A_matrix_strom	ENSG00000123342		0.632	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	36	0.00	0	C	NM_002429		56236540	56236540	-1	no_errors	ENST00000322569	ensembl	human	known	69_37n	missense	31	36.73	18	SNP	0.299	A
MOCOS	55034	genome.wustl.edu	37	18	33785149	33785149	+	Silent	SNP	C	C	T	rs138618669	byFrequency	TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr18:33785149C>T	ENST00000261326.5	+	6	1149	c.1128C>T	c.(1126-1128)agC>agT	p.S376S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGATTTACAGCGATTCTGAGT	0.502													C|||	6	0.00119808	0.0008	0.0	5008	,	,		17245	0.004		0.0	False		,,,				2504	0.001					dbGAP											0													129.0	120.0	123.0					18																	33785149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1128C>T	18.37:g.33785149C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.S376	ENST00000261326.5	37	c.1128	CCDS11919.1	18																																																																																			MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000075643		0.502	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	272	0.00	0	C			33785149	33785149	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	silent	258	35.18	140	SNP	0.041	T
MYH13	8735	genome.wustl.edu	37	17	10247167	10247167	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr17:10247167G>A	ENST00000418404.3	-	15	2007	c.1844C>T	c.(1843-1845)tCg>tTg	p.S615L	MYH13_ENST00000252172.4_Missense_Mutation_p.S615L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	615	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGCTTCAGCGAAGACTTCTG	0.502																																						dbGAP											0													72.0	73.0	72.0					17																	10247167		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1844C>T	17.37:g.10247167G>A	ENSP00000404570:p.Ser615Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.S615L	ENST00000418404.3	37	c.1844	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446871	0.63178	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.72615	-0.67	4.2	3.22	0.36961	Myosin head, motor domain (2);	.	.	.	.	T	0.81912	0.4923	H	0.95151	3.63	0.28173	N	0.928471	P	0.44690	0.841	P	0.45829	0.494	T	0.78494	-0.2182	9	0.87932	D	0	.	12.4893	0.55891	0.0824:0.0:0.9176:0.0	.	615	Q9UKX3	MYH13_HUMAN	L	615;290	ENSP00000252172:S615L	ENSP00000252172:S615L	S	-	2	0	MYH13	10187892	0.342000	0.24809	0.168000	0.22838	0.866000	0.49608	3.193000	0.50997	1.101000	0.41535	0.478000	0.44815	TCG	MYH13	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000006788		0.502	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	346	0.00	0	G	NM_003802		10247167	10247167	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	missense	136	49.44	133	SNP	0.620	A
NEDD4L	23327	genome.wustl.edu	37	18	55992246	55992246	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr18:55992246G>C	ENST00000400345.3	+	9	815	c.532G>C	c.(532-534)Gac>Cac	p.D178H	NEDD4L_ENST00000456986.1_Missense_Mutation_p.D57H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.D57H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D178H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.D170H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.D57H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.D170H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.D57H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.D57H|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D178H|NEDD4L_ENST00000382850.4_Missense_Mutation_p.D178H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	178					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GGAAGTTGTTGACTCAAATGA	0.498																																						dbGAP											0													237.0	240.0	239.0					18																	55992246		2029	4167	6196	-	-	-	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.532G>C	18.37:g.55992246G>C	ENSP00000383199:p.Asp178His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.D178H	ENST00000400345.3	37	c.532	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950126	0.92660	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.35789	1.32;1.31;1.29;1.31;1.8;1.81;1.73;1.79;1.79;1.81	5.51	5.51	0.81932	.	0.270358	0.35677	N	0.003050	T	0.60894	0.2304	M	0.67397	2.05	0.80722	D	1	D;P;D;P;D;D;P	0.89917	1.0;0.917;0.987;0.938;0.979;0.994;0.917	D;P;P;P;P;P;P	0.74023	0.982;0.885;0.885;0.62;0.875;0.897;0.885	T	0.63060	-0.6721	10	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	178;170;170;57;178;178;178	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	H	178;178;178;178;57;57;170;57;57;57	ENSP00000383199:D178H;ENSP00000372301:D178H;ENSP00000348847:D178H;ENSP00000256830:D178H;ENSP00000256832:D57H;ENSP00000411947:D57H;ENSP00000350569:D170H;ENSP00000393395:D57H;ENSP00000405440:D57H;ENSP00000389406:D57H	ENSP00000256830:D178H	D	+	1	0	NEDD4L	54143226	1.000000	0.71417	0.956000	0.39512	0.954000	0.61252	9.407000	0.97325	2.600000	0.87896	0.655000	0.94253	GAC	NEDD4L	-	NULL	ENSG00000049759		0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	399	0.00	0	G			55992246	55992246	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	missense	322	34.69	171	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178937445	178937445	+	Silent	SNP	T	T	G			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr3:178937445T>G	ENST00000263967.3	+	12	1990	c.1833T>G	c.(1831-1833)gtT>gtG	p.V611V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	611	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			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)	ATCCTATGGTTCGAGGTTTTG	0.358		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"""	0													73.0	66.0	68.0					3																	178937445		1823	4071	5894	-	-	-	SO:0001819	synonymous_variant	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.1833T>G	3.37:g.178937445T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Silent	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.V611	ENST00000263967.3	37	c.1833	CCDS43171.1	3																																																																																			PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	181	0.00	0	T			178937445	178937445	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	silent	279	13.62	44	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	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	229	0.43	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	200	45.23	166	SNP	1.000	G
POM121	9883	genome.wustl.edu	37	7	72413581	72413581	+	Missense_Mutation	SNP	G	G	A	rs71554687	byFrequency	TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr7:72413581G>A	ENST00000434423.2	+	11	3049	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	POM121_ENST00000446813.1_Missense_Mutation_p.V752I|POM121_ENST00000257622.4_Missense_Mutation_p.V752I|POM121_ENST00000395270.1_Missense_Mutation_p.V752I|POM121_ENST00000358357.3_Missense_Mutation_p.V752I			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1017	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CATGATCAAGGTCGTGCCTGC	0.627																																						dbGAP											0													93.0	89.0	91.0					7																	72413581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3049G>A	7.37:g.72413581G>A	ENSP00000405562:p.Val1017Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.V1017I	ENST00000434423.2	37	c.3049		7	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.841219	0.00573	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05855	3.38;3.39;3.38;3.39;3.62	0.1	-0.2	0.13216	.	.	.	.	.	T	0.01387	0.0045	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38001	-0.9681	8	0.02654	T	1	.	.	.	.	.	752;1017	A8MXF9;Q96HA1	.;P121A_HUMAN	I	752;752;752;752;1017	ENSP00000393020:V752I;ENSP00000257622:V752I;ENSP00000378687:V752I;ENSP00000351124:V752I;ENSP00000405562:V1017I	ENSP00000257622:V752I	V	+	1	0	POM121	72051517	0.003000	0.15002	0.021000	0.16686	0.014000	0.08584	-0.481000	0.06552	-1.965000	0.01010	-1.974000	0.00461	GTC	POM121	-	NULL	ENSG00000196313		0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	107	0.93	1	G			72413581	72413581	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	missense	128	11.64	17	SNP	0.026	A
PREP	5550	genome.wustl.edu	37	6	105816780	105816780	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr6:105816780C>T	ENST00000369110.3	-	6	907	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	239					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TACAATACCTCAGCTCCACCC	0.413																																						dbGAP											0													181.0	166.0	171.0					6																	105816780		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.715G>A	6.37:g.105816780C>T	ENSP00000358106:p.Glu239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.E239K	ENST00000369110.3	37	c.715	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399569	0.62177	.	.	ENSG00000085377	ENST00000369110	T	0.46063	0.88	6.17	6.17	0.99709	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.62266	1.93	0.80722	D	1	B	0.25105	0.118	B	0.26202	0.067	T	0.14476	-1.0471	10	0.18710	T	0.47	-36.6329	20.8794	0.99867	0.0:1.0:0.0:0.0	.	239	P48147	PPCE_HUMAN	K	239	ENSP00000358106:E239K	ENSP00000358106:E239K	E	-	1	0	PREP	105923473	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GAG	PREP	-	pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N	ENSG00000085377		0.413	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	343	0.00	0	C			105816780	105816780	-1	no_errors	ENST00000369110	ensembl	human	known	69_37n	missense	252	36.84	147	SNP	1.000	T
PRPF8	10594	genome.wustl.edu	37	17	1561627	1561627	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr17:1561627T>C	ENST00000572621.1	-	33	5690	c.5425A>G	c.(5425-5427)Atc>Gtc	p.I1809V	PRPF8_ENST00000304992.6_Missense_Mutation_p.I1809V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1809	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGGTTGAAGATGAAGATGGCT	0.532																																						dbGAP											0													191.0	178.0	182.0					17																	1561627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5425A>G	17.37:g.1561627T>C	ENSP00000460348:p.Ile1809Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.I1809V	ENST00000572621.1	37	c.5425	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	t	18.23	3.577438	0.65878	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.81821	-1.54	5.89	5.89	0.94794	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.85130	0.997	D	0.87098	0.2177	10	0.38643	T	0.18	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	1809	Q6P2Q9	PRP8_HUMAN	V	1809;334	ENSP00000304350:I1809V	ENSP00000304350:I1809V	I	-	1	0	PRPF8	1508377	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.013000	0.88655	2.254000	0.74563	0.459000	0.35465	ATC	PRPF8	-	pfam_PRP8_domainIV	ENSG00000174231		0.532	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	390	0.00	0	T			1561627	1561627	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	missense	147	54.74	179	SNP	1.000	C
RBL1	5933	genome.wustl.edu	37	20	35675538	35675538	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr20:35675538A>C	ENST00000373664.3	-	12	1589	c.1523T>G	c.(1522-1524)aTt>aGt	p.I508S	RBL1_ENST00000344359.3_Missense_Mutation_p.I508S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	508	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAAGAGCACAATTTCCAAACA	0.358																																						dbGAP											0													110.0	95.0	100.0					20																	35675538		2203	4300	6503	-	-	-	SO:0001583	missense	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1523T>G	20.37:g.35675538A>C	ENSP00000362768:p.Ile508Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.I508S	ENST00000373664.3	37	c.1523	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512569	0.85389	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.89196	-2.48;-2.48	4.75	4.75	0.60458	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.118072	0.64402	D	0.000020	D	0.94581	0.8254	M	0.85630	2.765	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.79784	0.951;0.993	D	0.95406	0.8494	10	0.87932	D	0	-16.4977	14.7005	0.69152	1.0:0.0:0.0:0.0	.	508;508	P28749-2;P28749	.;RBL1_HUMAN	S	508	ENSP00000362768:I508S;ENSP00000343646:I508S	ENSP00000343646:I508S	I	-	2	0	RBL1	35108952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.119000	0.64992	0.477000	0.44152	ATT	RBL1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000080839		0.358	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	223	0.00	0	A	NM_002895		35675538	35675538	-1	no_errors	ENST00000373664	ensembl	human	known	69_37n	missense	187	32.49	90	SNP	1.000	C
RPS21	6227	genome.wustl.edu	37	20	60963388	60963388	+	Silent	SNP	C	C	T	rs570425523		TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr20:60963388C>T	ENST00000343986.4	+	5	249	c.210C>T	c.(208-210)ctC>ctT	p.L70L	RPS21_ENST00000450116.2_Silent_p.L70L|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	70					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|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)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)	p.D67_L72delDSILRL(1)		endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATTCCATTCTCCGATTGGCCA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Deletion - In frame(1)	prostate(1)											93.0	81.0	85.0					20																	60963388		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.210C>T	20.37:g.60963388C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P35265	Silent	SNP	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e	p.L70	ENST00000343986.4	37	c.210	CCDS13497.1	20	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240769	0.22711	.	.	ENSG00000171858	ENST00000337102	.	.	.	5.34	-1.99	0.07457	.	1.598070	0.03940	N	0.286789	T	0.54549	0.1865	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47699	-0.9097	6	0.87932	D	0	0.3483	1.5286	0.02530	0.3567:0.2651:0.233:0.1451	.	.	.	.	F	70	.	ENSP00000337019:S70F	S	+	2	0	RPS21	60396783	0.991000	0.36638	0.964000	0.40570	0.908000	0.53690	0.001000	0.13038	-0.656000	0.05380	-0.742000	0.03525	TCC	RPS21	-	pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e	ENSG00000171858		0.502	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS21	HGNC	protein_coding	OTTHUMT00000080031.2	257	0.00	0	C	NM_001024		60963388	60963388	+1	no_errors	ENST00000317311	ensembl	human	known	69_37n	silent	188	37.54	113	SNP	0.976	T
RUNX1	861	genome.wustl.edu	37	21	36206753	36206753	+	Silent	SNP	C	C	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr21:36206753C>T	ENST00000344691.4	-	4	2255	c.678G>A	c.(676-678)ctG>ctA	p.L226L	RUNX1_ENST00000325074.5_Silent_p.L241L|RUNX1_ENST00000358356.5_Silent_p.L226L|RUNX1_ENST00000300305.3_Silent_p.L253L|RUNX1_ENST00000437180.1_Silent_p.L253L|RUNX1_ENST00000399240.1_Intron	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	226	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGAGTGGTTCAGGGAGGCAC	0.647			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													119.0	118.0	118.0					21																	36206753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.678G>A	21.37:g.36206753C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L253	ENST00000344691.4	37	c.759	CCDS42922.1	21																																																																																			RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.647	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	322	0.00	0	C			36206753	36206753	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	silent	199	25.47	68	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	GRCh37	CM067054	TP53	M							47.0	47.0	47.0					17																	7578395		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179Y	ENST00000269305.4	37	c.535	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	148	0.00	0	G	NM_000546		7578395	7578395	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	38	57.30	51	SNP	1.000	A
TTC29	83894	genome.wustl.edu	37	4	147741289	147741289	+	Silent	SNP	G	G	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr4:147741289G>A	ENST00000325106.4	-	10	1315	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	TTC29_ENST00000513335.1_Silent_p.I389I|TTC29_ENST00000398886.4_Silent_p.I389I	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	363										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTCATTGTAGATGTCCCCAA	0.328																																						dbGAP											0													153.0	149.0	150.0					4																	147741289		1837	4081	5918	-	-	-	SO:0001819	synonymous_variant	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1089C>T	4.37:g.147741289G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU95|Q9BXB6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.I389	ENST00000325106.4	37	c.1167	CCDS47141.1	4																																																																																			TTC29	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000137473		0.328	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		411	0.00	0	G	NM_031956		147741289	147741289	-1	no_errors	ENST00000398886	ensembl	human	known	69_37n	silent	336	29.56	141	SNP	1.000	A
XKR5	389610	genome.wustl.edu	37	8	6679393	6679393	+	RNA	SNP	T	T	A			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr8:6679393T>A	ENST00000518724.1	-	0	955							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CCACTTGCCATGTAGAACGTG	0.522																																						dbGAP											0													45.0	47.0	46.0					8																	6679393		2054	4193	6247	-	-	-			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679393T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.522	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	147	0.00	0	T	NM_207411		6679393	6679393	-1	no_errors	ENST00000405979	ensembl	human	known	69_37n	rna	88	27.64	34	SNP	0.004	A
ZSCAN20	7579	genome.wustl.edu	37	1	33959019	33959019	+	Silent	SNP	C	C	T			TCGA-C8-A1HF-01A-11D-A135-09	TCGA-C8-A1HF-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	508a26f2-d117-44aa-b579-00a119b8bcc4	7ab5304c-1c60-4d91-8009-808ae01ee432	g.chr1:33959019C>T	ENST00000361328.3	+	7	1830	c.1677C>T	c.(1675-1677)tgC>tgT	p.C559C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	559					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGGGACATGCCCTTTCTATG	0.597																																						dbGAP											0													81.0	85.0	84.0					1																	33959019		2084	4222	6306	-	-	-	SO:0001819	synonymous_variant	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1677C>T	1.37:g.33959019C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C559	ENST00000361328.3	37	c.1677	CCDS41300.1	1																																																																																			ZSCAN20	-	NULL	ENSG00000121903		0.597	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	111	0.00	0	C	NM_145238		33959019	33959019	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	silent	84	38.24	52	SNP	1.000	T
