#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_ORegAnno_bin	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
ABCF2	10061	genome.wustl.edu	37	7	150921061	150921061	+	Silent	SNP	C	C	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr7:150921061C>T	ENST00000287844.2	-	4	616	c.507G>A	c.(505-507)cgG>cgA	p.R169R	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.R169R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	169	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCATGGCCCGCTCTGTGT	0.597																																						dbGAP											0													100.0	88.0	92.0					7																	150921061		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.507G>A	7.37:g.150921061C>T			O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R169	ENST00000287844.2	37	c.507	CCDS5923.1	7																																																																																			ABCF2	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000033050		0.597	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	55	0.00	0	C	NM_005692		150921061	150921061	-1	no_errors	ENST00000222388	ensembl	human	known	69_37n	silent	104	18.75	24	SNP	1.000	T
ANKRD26P1	124149	genome.wustl.edu	37	16	46597801	46597802	+	IGR	INS	-	-	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr16:46597801_46597802insT								RNU6-845P (7698 upstream) : SHCBP1 (16663 downstream)																							TGTAAAAGCAGTTTTTTTGTCA	0.356																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.46597808_46597808dupT				RNA	INS	-	NULL		37	NULL		16																																																																																			ANKRD26P1	-	-	ENSG00000261239	0	0.356					ANKRD26P1	HGNC			15	0.00	0	-			46597801	46597802	-1	no_errors	ENST00000566201	ensembl	human	known	69_37n	rna	9	18.18	2	INS	0.945:0.029	T
ASUN	55726	genome.wustl.edu	37	12	27069033	27069033	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr12:27069033T>C	ENST00000261191.7	-	11	1686	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	ASUN_ENST00000539625.1_Missense_Mutation_p.I283V	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	384					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGCAAAAAAATCTCTCCTCCA	0.403																																						dbGAP											0													102.0	89.0	93.0					12																	27069033		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1150A>G	12.37:g.27069033T>C	ENSP00000261191:p.Ile384Val		B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	pfam_Cell_cycle_regulator_Mat89Bb	p.I384V	ENST00000261191.7	37	c.1150	CCDS8708.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.8|29.8	5.041182|5.041182	0.93685|0.93685	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000542392|ENST00000538155;ENST00000261191;ENST00000539625	.|T;T;T	.|0.54071	.|0.59;0.59;0.59	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70771|0.70771	0.3262|0.3262	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|P;D	.|0.60160	.|0.898;0.987	.|D;P	.|0.68192	.|0.956;0.856	T|T	0.73310|0.73310	-0.4023|-0.4023	5|10	.|0.72032	.|D	.|0.01	-23.7239|-23.7239	16.5479|16.5479	0.84454|0.84454	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|384;283	.|Q9NVM9;B4DNK1	.|M89BB_HUMAN;.	G|V	97|88;384;283	.|ENSP00000445645:I88V;ENSP00000261191:I384V;ENSP00000443724:I283V	.|ENSP00000261191:I384V	D|I	-|-	2|1	0|0	C12orf11|C12orf11	26960300|26960300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.979000|7.979000	0.88103|0.88103	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAT|ATT	ASUN	-	pfam_Cell_cycle_regulator_Mat89Bb	ENSG00000064102		0.403	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASUN	HGNC	protein_coding	OTTHUMT00000402819.1	66	0.00	0	T	NM_018164		27069033	27069033	-1	no_errors	ENST00000261191	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	1.000	C
CABIN1	23523	genome.wustl.edu	37	22	24480534	24480534	+	Silent	SNP	G	G	A			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr22:24480534G>A	ENST00000398319.2	+	21	3298	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	CABIN1_ENST00000405822.2_Silent_p.V921V|CABIN1_ENST00000263119.5_Silent_p.V971V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	971					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTTCAAGGTGGATCTTATAT	0.408																																						dbGAP											0													177.0	168.0	171.0					22																	24480534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2913G>A	22.37:g.24480534G>A			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V971	ENST00000398319.2	37	c.2913	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.408	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	131	0.00	0	G	NM_012295		24480534	24480534	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	silent	136	17.58	29	SNP	1.000	A
EDN1	1906	genome.wustl.edu	37	6	12296218	12296218	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr6:12296218T>A	ENST00000379375.5	+	5	824	c.557T>A	c.(556-558)gTc>gAc	p.V186D		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	186			V -> I (in dbSNP:rs6413478).		artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|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 endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAAACAGCGTCAAATCATCT	0.418																																						dbGAP											0													162.0	156.0	158.0					6																	12296218		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.557T>A	6.37:g.12296218T>A	ENSP00000368683:p.Val186Asp		Q96DA1	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.V186D	ENST00000379375.5	37	c.557	CCDS4522.1	6	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369789	0.42003	.	.	ENSG00000078401	ENST00000379375	D	0.85955	-2.05	6.08	6.08	0.98989	.	0.365789	0.33144	N	0.005227	T	0.75889	0.3911	N	0.22421	0.69	0.53005	D	0.999967	D;D	0.56521	0.976;0.976	P;P	0.47864	0.559;0.559	T	0.81927	-0.0709	10	0.87932	D	0	-30.0433	15.2149	0.73258	0.0:0.0:0.0:1.0	.	186;186	Q6FH53;P05305	.;EDN1_HUMAN	D	186	ENSP00000368683:V186D	ENSP00000368683:V186D	V	+	2	0	EDN1	12404204	1.000000	0.71417	0.996000	0.52242	0.007000	0.05969	4.871000	0.63042	2.333000	0.79357	0.533000	0.62120	GTC	EDN1	-	NULL	ENSG00000078401		0.418	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	299	0.00	0	T	NM_001955		12296218	12296218	+1	no_errors	ENST00000379375	ensembl	human	known	69_37n	missense	246	16.04	47	SNP	1.000	A
EPHX1	2052	genome.wustl.edu	37	1	226026417	226026417	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr1:226026417C>T	ENST00000366837.4	+	4	623	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.P143S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	143					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TACCCCGAAGCCCTTGCTGAT	0.607																																						dbGAP											0													92.0	98.0	96.0					1																	226026417		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.427C>T	1.37:g.226026417C>T	ENSP00000355802:p.Pro143Ser		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.P143S	ENST00000366837.4	37	c.427	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153473	0.78114	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000366837	T;T;T	0.60424	0.19;0.19;0.19	5.83	3.89	0.44902	Epoxide hydrolase, N-terminal (1);	0.108141	0.64402	D	0.000005	D	0.83825	0.5338	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88102	0.2820	10	0.87932	D	0	-24.2359	12.8437	0.57817	0.1306:0.7441:0.1253:0.0	.	143	P07099	HYEP_HUMAN	S	143	ENSP00000398491:P143S;ENSP00000272167:P143S;ENSP00000355802:P143S	ENSP00000272167:P143S	P	+	1	0	EPHX1	224093040	1.000000	0.71417	0.940000	0.37924	0.783000	0.44284	3.953000	0.56699	0.746000	0.32786	0.555000	0.69702	CCC	EPHX1	-	pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase	ENSG00000143819		0.607	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	131	0.00	0	C	NM_000120		226026417	226026417	+1	no_errors	ENST00000272167	ensembl	human	known	69_37n	missense	186	16.52	37	SNP	0.995	T
ETS2	2114	genome.wustl.edu	37	21	40186843	40186843	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr21:40186843T>C	ENST00000360214.3	+	6	903	c.443T>C	c.(442-444)cTg>cCg	p.L148P	ETS2_ENST00000360938.3_Missense_Mutation_p.L148P	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	148	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GAACGCTTTCTGGAGCTGGCA	0.507																																						dbGAP											0													196.0	195.0	195.0					21																	40186843		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.443T>C	21.37:g.40186843T>C	ENSP00000353344:p.Leu148Pro		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.L148P	ENST00000360214.3	37	c.443	CCDS13659.1	21	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500383	0.85176	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71619	-0.4538	10	0.87932	D	0	.	15.174	0.72896	0.0:0.0:0.0:1.0	.	148;148	P15036;C9JAG2	ETS2_HUMAN;.	P	148	ENSP00000353344:L148P;ENSP00000354194:L148P;ENSP00000401273:L148P;ENSP00000411086:L148P	ENSP00000353344:L148P	L	+	2	0	ETS2	39108713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.903000	0.87398	2.030000	0.59900	0.533000	0.62120	CTG	ETS2	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets	ENSG00000157557		0.507	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	91	0.00	0	T			40186843	40186843	+1	no_errors	ENST00000360214	ensembl	human	known	69_37n	missense	69	28.12	27	SNP	1.000	C
FAM136A	84908	genome.wustl.edu	37	2	70524439	70524439	+	Silent	SNP	G	G	A	rs200723862		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr2:70524439G>A	ENST00000037869.3	-	3	477	c.399C>T	c.(397-399)ctC>ctT	p.L133L	FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Silent_p.L240L	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	133						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAATTGATAAGAGAGCCTCCT	0.418																																						dbGAP											0													118.0	109.0	112.0					2																	70524439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.399C>T	2.37:g.70524439G>A			Q96SS3	Silent	SNP	pfam_DUF842_euk	p.L133	ENST00000037869.3	37	c.399	CCDS1904.1	2																																																																																			FAM136A	-	pfam_DUF842_euk	ENSG00000035141		0.418	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM136A	HGNC	protein_coding	OTTHUMT00000251869.2	110	0.00	0	G	NM_032822		70524439	70524439	-1	no_errors	ENST00000037869	ensembl	human	known	69_37n	silent	87	23.01	26	SNP	0.812	A
FGFR3	2261	genome.wustl.edu	37	4	1806180	1806181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr4:1806180_1806181insC	ENST00000260795.2	+	8	1301_1302	c.1199_1200insC	c.(1198-1203)agccccfs	p.SP400fs	FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.SP402fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.SP400fs|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.SP400fs|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	400					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													dbGAP		Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1206dupC	4.37:g.1806187_1806187dupC	ENSP00000260795:p.Ser400fs		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K405fs	ENST00000260795.2	37	c.1205_1206	CCDS3353.1	4																																																																																			FGFR3	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000068078		0.629	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2	20	0.00	0	-	NM_000142		1806180	1806181	+1	no_errors	ENST00000340107	ensembl	human	known	69_37n	frame_shift_ins	17	15.00	3	INS	0.996:0.987	C
GNAZ	2781	genome.wustl.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G	rs201266285	byFrequency	TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-609)gtggggfs	p.VG202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.612dupG	22.37:g.23438494_23438494dupG	ENSP00000248996:p.Val202fs		B2R6C1|Q4QRJ6	Frame_Shift_Ins	INS	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.Q205fs	ENST00000248996.4	37	c.605_606	CCDS13804.1	22																																																																																			GNAZ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000128266		0.574	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	33	0.00	0	-	NM_002073		23438487	23438488	+1	no_errors	ENST00000248996	ensembl	human	known	69_37n	frame_shift_ins	43	12.24	6	INS	1.000:1.000	G
HAL	3034	genome.wustl.edu	37	12	96380925	96380925	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr12:96380925C>G	ENST00000261208.3	-	12	1339	c.971G>C	c.(970-972)aGt>aCt	p.S324T	HAL_ENST00000551562.1_5'Flank|HAL_ENST00000538703.1_Missense_Mutation_p.S324T|HAL_ENST00000541929.1_Missense_Mutation_p.S116T	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	324					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGCAATAGCACTGGCTCGCTC	0.567																																					NSCLC(169;943 2815 23563 30031)	dbGAP											0													102.0	94.0	97.0					12																	96380925		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.971G>C	12.37:g.96380925C>G	ENSP00000261208:p.Ser324Thr		B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.S324T	ENST00000261208.3	37	c.971	CCDS9058.1	12	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425656	0.43020	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.59	4.7	0.59300	L-Aspartase-like (1);	0.220091	0.56097	D	0.000021	T	0.49474	0.1559	N	0.01576	-0.805	0.33512	D	0.59127	B;B	0.06786	0.001;0.001	B;B	0.16722	0.002;0.016	T	0.53885	-0.8375	10	0.17832	T	0.49	-10.177	9.9438	0.41596	0.0:0.7878:0.0:0.2122	.	324;324	F5GXF2;P42357	.;HUTH_HUMAN	T	324;116;324;312	ENSP00000261208:S324T;ENSP00000446364:S116T;ENSP00000440861:S324T;ENSP00000450372:S312T	ENSP00000261208:S324T	S	-	2	0	HAL	94905056	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	2.189000	0.42621	1.376000	0.46267	0.555000	0.69702	AGT	HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.567	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	114	0.00	0	C			96380925	96380925	-1	no_errors	ENST00000261208	ensembl	human	known	69_37n	missense	113	12.40	16	SNP	1.000	G
HLA-C	3107	genome.wustl.edu	37	6	31239010	31239010	+	Silent	SNP	G	G	A	rs1050371	byFrequency	TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr6:31239010G>A	ENST00000376228.5	-	3	473	c.459C>T	c.(457-459)gaC>gaT	p.D153D	HLA-C_ENST00000383329.3_Silent_p.D153D	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	153	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGGAGCGCAGGTCCTCGTTCA	0.692																																						dbGAP											0													37.0	28.0	31.0					6																	31239010		2184	4246	6430	-	-	-	SO:0001819	synonymous_variant	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.459C>T	6.37:g.31239010G>A			O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	p.P153S	ENST00000376228.5	37	c.457	CCDS34393.1	6	555	0.2541208791208791	123	0.25	95	0.26243093922651933	172	0.3006993006993007	165	0.21767810026385223	.	9.953	1.220699	0.22457	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	2.81	0.32909	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.09310	P	0.9999999999897135	.	.	.	.	.	.	T	0.08554	-1.0716	3	.	.	.	.	7.8755	0.29590	0.0:0.2576:0.7424:0.0	rs1050371;rs2308581;rs3177878;rs3190666	.	.	.	S	153	.	.	P	-	1	0	HLA-C	31346989	0.026000	0.19158	1.000000	0.80357	0.103000	0.19146	0.681000	0.25320	1.886000	0.54624	0.305000	0.20034	CCT	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	ENSG00000204525		0.692	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	15	0.00	0	G	NM_002117		31239010	31239010	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415537	ensembl	human	novel	69_37n	missense	18	25.00	6	SNP	1.000	A
IGDCC4	57722	genome.wustl.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Q9HCE4	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T871fs	ENST00000352385.2	37	c.2614_2613	CCDS10206.1	15																																																																																			IGDCC4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000103742		0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	23	0.00	0	-	NM_020962		65681239	65681240	-1	no_errors	ENST00000352385	ensembl	human	novel	69_37n	frame_shift_ins	25	13.79	4	INS	0.007:0.001	G
MAGED2	10916	genome.wustl.edu	37	X	54841196	54841197	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chrX:54841196_54841197insT	ENST00000375068.1	+	11	1607_1608	c.1374_1375insT	c.(1375-1377)tttfs	p.F459fs	MAGED2_ENST00000218439.4_Frame_Shift_Ins_p.F459fs|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Frame_Shift_Ins_p.F374fs|MAGED2_ENST00000375053.2_Frame_Shift_Ins_p.F459fs|MAGED2_ENST00000396224.1_Frame_Shift_Ins_p.F459fs|MAGED2_ENST00000347546.4_Frame_Shift_Ins_p.F441fs|MAGED2_ENST00000375058.1_Frame_Shift_Ins_p.F459fs|MAGED2_ENST00000375060.1_Frame_Shift_Ins_p.F374fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	459	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AAGTCCTCAAGTTTGCCTGCAA	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1377dupT	X.37:g.54841199_54841199dupT	ENSP00000364209:p.Phe459fs		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.A459fs	ENST00000375068.1	37	c.1374_1375	CCDS14362.1	X																																																																																			MAGED2	-	pfscan_MAGE	ENSG00000102316		0.545	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	90	0.00	0	-	NM_014599		54841196	54841197	+1	no_errors	ENST00000218439	ensembl	human	known	69_37n	frame_shift_ins	70	18.60	16	INS	1.000:1.000	T
MAP2K4	6416	genome.wustl.edu	37	17	12044530	12044530	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr17:12044530C>G	ENST00000353533.5	+	11	1216	c.1153C>G	c.(1153-1155)Ctg>Gtg	p.L385V	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L396V	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	385	DVD domain.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGTAAAATCCTGGATCAAAT	0.408			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Unknown(2)	ovary(4)|breast(4)|pancreas(2)|biliary_tract(1)|lung(1)											151.0	130.0	137.0					17																	12044530		2203	4299	6502	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1153C>G	17.37:g.12044530C>G	ENSP00000262445:p.Leu385Val		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L396V	ENST00000353533.5	37	c.1186	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703050	0.48412	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.72615	-0.6;-0.67	5.53	4.57	0.56435	Protein kinase-like domain (1);	0.139093	0.50627	D	0.000117	T	0.72598	0.3480	M	0.72118	2.19	0.58432	D	0.999997	B;P;B	0.37708	0.037;0.606;0.334	B;B;B	0.41723	0.031;0.365;0.2	T	0.76650	-0.2881	10	0.87932	D	0	.	13.1676	0.59579	0.0:0.9229:0.0:0.0771	.	257;396;385	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	V	385;396;362;257	ENSP00000262445:L385V;ENSP00000410402:L396V	ENSP00000262445:L385V	L	+	1	2	MAP2K4	11985255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.171000	0.50824	1.577000	0.49804	0.650000	0.86243	CTG	MAP2K4	-	superfamily_Kinase-like_dom	ENSG00000065559		0.408	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	189	0.00	0	C			12044530	12044530	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	123	17.45	26	SNP	1.000	G
MAP3K1	4214	genome.wustl.edu	37	5	56183347	56183347	+	Splice_Site	SNP	G	G	A			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr5:56183347G>A	ENST00000399503.3	+	18	4257	c.4257G>A	c.(4255-4257)gaG>gaA	p.E1419E		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1419	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGGCACCTGAGGTGAGAAGCA	0.413																																						dbGAP											0													199.0	179.0	185.0					5																	56183347		1894	4118	6012	-	-	-	SO:0001630	splice_region_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4257+1G>A	5.37:g.56183347G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E1419	ENST00000399503.3	37	c.4257	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.413	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	302	0.00	0	G	XM_042066	Silent	56183347	56183347	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	silent	262	18.12	58	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151945622	151945622	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr7:151945622delC	ENST00000262189.6	-	14	2115	c.1897delG	c.(1897-1899)gaafs	p.E633fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.E633fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	633					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCTTCACTTCAGAAGACATT	0.353																																						dbGAP											0													55.0	53.0	54.0					7																	151945622		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1897delG	7.37:g.151945622delC	ENSP00000262189:p.Glu633fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E633fs	ENST00000262189.6	37	c.1897	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	196	0.00	0	C			151945622	151945622	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	148	17.93	33	DEL	0.982	-
MUC5B	727897	genome.wustl.edu	37	11	1266173	1266173	+	Missense_Mutation	SNP	C	C	T	rs200890356		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr11:1266173C>T	ENST00000529681.1	+	31	8121	c.8063C>T	c.(8062-8064)cCa>cTa	p.P2688L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2691L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2688	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTACTcccccatcactgacc	0.617																																						dbGAP											0													25.0	33.0	30.0					11																	1266173		1769	3915	5684	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8063C>T	11.37:g.1266173C>T	ENSP00000436812:p.Pro2688Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P2691L	ENST00000529681.1	37	c.8072	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	7.255	0.604058	0.14002	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.22336	1.96;2.15	2.0	2.0	0.26442	.	.	.	.	.	T	0.22859	0.0552	L	0.46157	1.445	0.09310	N	1	P	0.41524	0.753	B	0.43838	0.433	T	0.11275	-1.0594	9	0.87932	D	0	.	9.5656	0.39396	0.0:1.0:0.0:0.0	.	2691	E9PBJ0	.	L	2688;2691;2660	ENSP00000436812:P2688L;ENSP00000415793:P2691L	ENSP00000343037:P2660L	P	+	2	0	MUC5B	1222749	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	1.138000	0.31491	1.094000	0.41399	0.205000	0.17691	CCA	MUC5B	-	NULL	ENSG00000117983		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	22	0.00	0	C	XM_001126093		1266173	1266173	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.011	T
NAA30	122830	genome.wustl.edu	37	14	57858091	57858092	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr14:57858091_57858092delCT	ENST00000556492.1	+	2	570_571	c.416_417delCT	c.(415-417)cctfs	p.P139fs	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	139					metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GAGAGGCCCCCTCACTCCCTCT	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.416_417delCT	14.37:g.57858091_57858092delCT	ENSP00000452521:p.Pro139fs		Q0IIN2	Frame_Shift_Del	DEL	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H140fs	ENST00000556492.1	37	c.416_417	CCDS32088.1	14																																																																																			NAA30	-	NULL	ENSG00000139977		0.693	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA30	HGNC	protein_coding	OTTHUMT00000412925.1	32	0.00	0	CT	NM_001011713		57858091	57858092	+1	no_errors	ENST00000556492	ensembl	human	known	69_37n	frame_shift_del	15	58.33	21	DEL	0.911:0.880	-
NOP9	161424	genome.wustl.edu	37	14	24769173	24769173	+	Frame_Shift_Del	DEL	C	C	-	rs543850916		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr14:24769173delC	ENST00000267425.3	+	1	106	c.13delC	c.(13-15)ccgfs	p.P5fs	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Frame_Shift_Del_p.P5fs|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	5							poly(A) RNA binding (GO:0044822)										GGGGCAGGGTCCGCGCTCTCC	0.672																																						dbGAP											0													12.0	14.0	14.0					14																	24769173		1955	3840	5795	-	-	-	SO:0001589	frameshift_variant	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.13delC	14.37:g.24769173delC	ENSP00000267425:p.Pro5fs		A8MY76|Q8IVF0|Q8TBS6	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.P5fs	ENST00000267425.3	37	c.13	CCDS9624.1	14																																																																																			NOP9	-	NULL	ENSG00000196943		0.672	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	17	0.00	0	C			24769173	24769173	+1	no_errors	ENST00000267425	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.996	-
PEX2	5828	genome.wustl.edu	37	8	77895511	77895511	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr8:77895511C>T	ENST00000419564.2	-	4	1368	c.904G>A	c.(904-906)Gta>Ata	p.V302I	PEX2_ENST00000522527.1_Missense_Mutation_p.V302I|PEX2_ENST00000520103.1_Missense_Mutation_p.V302I|PEX2_ENST00000357039.4_Missense_Mutation_p.V302I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	302					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AGAGCATTTACTTCTGACATC	0.348																																						dbGAP											0													98.0	101.0	100.0					8																	77895511		2203	4300	6503	-	-	-	SO:0001583	missense	0			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.904G>A	8.37:g.77895511C>T	ENSP00000400984:p.Val302Ile		Q567S6|Q9BW41	Missense_Mutation	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.V302I	ENST00000419564.2	37	c.904	CCDS6221.1	8	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314636	0.40996	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.35	4.48	0.54585	.	0.377447	0.25500	N	0.030245	T	0.37433	0.1003	M	0.61703	1.905	0.31154	N	0.705097	B	0.30406	0.278	B	0.27887	0.084	T	0.41893	-0.9483	10	0.29301	T	0.29	-19.1942	10.02	0.42037	0.1452:0.7812:0.0:0.0736	.	302	P28328	PEX2_HUMAN	I	302	ENSP00000349543:V302I;ENSP00000400984:V302I;ENSP00000428590:V302I;ENSP00000428638:V302I	ENSP00000349543:V302I	V	-	1	0	PEX2	78058066	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.640000	0.37186	1.507000	0.48752	0.557000	0.71058	GTA	PEX2	-	NULL	ENSG00000164751		0.348	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	310	0.00	0	C	NM_000318		77895511	77895511	-1	no_errors	ENST00000357039	ensembl	human	known	69_37n	missense	295	17.13	61	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {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.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(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)	TCATGGATTAGAAGATTTGCT	0.348		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"""	19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											137.0	130.0	132.0					3																	178928079		1829	4090	5919	-	-	-	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.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys		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.E453K	ENST00000263967.3	37	c.1357	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	135	0.00	0	G			178928079	178928079	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	135	21.97	38	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	88	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	1.000	A
PIPSL	266971	genome.wustl.edu	37	10	95718375	95718377	+	RNA	DEL	TTC	TTC	-			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr10:95718375_95718377delTTC	ENST00000480546.1	-	0	2920_2922					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ctttctttctttctttctttctt	0.32																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718375_95718377delTTC			Q6NUK8	RNA	DEL	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.320	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	13	0.00	0	TTC	NR_002319		95718375	95718377	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	3	40.00	2	DEL	0.070:0.070:0.070	-
PKHD1	5314	genome.wustl.edu	37	6	51944778	51944778	+	Silent	SNP	G	G	A			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr6:51944778G>A	ENST00000371117.3	-	5	585	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	PKHD1_ENST00000340994.4_Silent_p.L104L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	104	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAGTACAGACCCTCATGT	0.493																																						dbGAP											0													162.0	144.0	150.0					6																	51944778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.310C>T	6.37:g.51944778G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L104	ENST00000371117.3	37	c.310	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	241	0.00	0	G	NM_138694		51944778	51944778	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	silent	144	19.10	34	SNP	0.001	A
POTEM	641455	genome.wustl.edu	37	14	20010197	20010197	+	Missense_Mutation	SNP	C	C	T	rs201777669		TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr14:20010197C>T	ENST00000551509.1	-	5	1012	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	RP11-244H18.1_ENST00000547584.1_lincRNA|RNU6-1268P_ENST00000391214.1_RNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	321										endometrium(4)|kidney(1)|lung(4)	9						AGAAGGCTGACTATACTTGCC	0.358																																						dbGAP											0													11.0	12.0	12.0					14																	20010197		364	738	1102	-	-	-	SO:0001583	missense	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.961G>A	14.37:g.20010197C>T	ENSP00000452296:p.Val321Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V321I	ENST00000551509.1	37	c.961	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	c	10.89	1.478847	0.26511	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.69685	-0.42	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.760974	0.10024	U	0.725571	T	0.66157	0.2761	L	0.38649	1.16	0.09310	N	1	D	0.57899	0.981	P	0.60117	0.869	T	0.53599	-0.8416	9	.	.	.	.	5.193	0.15220	0.0:1.0:0.0:0.0	.	321	A6NI47	POTEM_HUMAN	I	321;406;321	ENSP00000452296:V321I	.	V	-	1	0	POTEM	19080197	0.231000	0.23751	0.040000	0.18447	0.081000	0.17604	1.030000	0.30153	0.793000	0.33875	0.184000	0.17185	GTC	POTEM	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000187537		0.358	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	18	0.00	0	C	NM_001145442		20010197	20010197	-1	no_errors	ENST00000547848	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.063	T
RNF14	9604	genome.wustl.edu	37	5	141359713	141359714	+	In_Frame_Ins	INS	-	-	AGG			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr5:141359713_141359714insAGG	ENST00000394520.2	+	6	1169_1170	c.860_861insAGG	c.(859-864)ttattt>ttAGGattt	p.287_288LF>LGF	RNF14_ENST00000394519.1_In_Frame_Ins_p.287_288LF>LGF|RNF14_ENST00000347642.3_In_Frame_Ins_p.287_288LF>LGF|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_In_Frame_Ins_p.161_162LF>LGF|RNF14_ENST00000356143.1_In_Frame_Ins_p.287_288LF>LGF|RNF14_ENST00000394515.3_In_Frame_Ins_p.111_112LF>LGF	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	287					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAAGCAGAGTTATTTGCCCGTT	0.525																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	Exception_encountered	5.37:g.141359713_141359714insAGG	ENSP00000378028:p.Leu287_Phe288insGly		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	In_Frame_Ins	INS	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.288in_frame_insG	ENST00000394520.2	37	c.860_861	CCDS4270.1	5																																																																																			RNF14	-	NULL	ENSG00000013561		0.525	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	86	0.00	0	-	NM_004290		141359713	141359714	+1	no_errors	ENST00000347642	ensembl	human	known	69_37n	in_frame_ins	98	15.52	18	INS	1.000:0.980	AGG
TNS4	84951	genome.wustl.edu	37	17	38643408	38643408	+	Silent	SNP	G	G	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr17:38643408G>T	ENST00000254051.6	-	4	1326	c.1168C>A	c.(1168-1170)Cgg>Agg	p.R390R		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	390					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCTGGGGTCCGCTGGGGTGGA	0.612																																						dbGAP											0													161.0	165.0	164.0					17																	38643408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1168C>A	17.37:g.38643408G>T			A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.R390	ENST00000254051.6	37	c.1168	CCDS11368.1	17																																																																																			TNS4	-	NULL	ENSG00000131746		0.612	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	82	0.00	0	G	NM_032865		38643408	38643408	-1	no_errors	ENST00000254051	ensembl	human	known	69_37n	silent	79	21.78	22	SNP	0.019	T
ZNF292	23036	genome.wustl.edu	37	6	87967879	87967879	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr6:87967879A>G	ENST00000369577.3	+	8	4575	c.4532A>G	c.(4531-4533)cAt>cGt	p.H1511R	ZNF292_ENST00000339907.4_Missense_Mutation_p.H1506R	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1511						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGCTTTCTCATGTTTCAACA	0.433																																						dbGAP											0													41.0	41.0	41.0					6																	87967879		1992	4157	6149	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4532A>G	6.37:g.87967879A>G	ENSP00000358590:p.His1511Arg		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1511R	ENST00000369577.3	37	c.4532	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	A	3.961	-0.010353	0.07727	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06218	3.33;3.34	5.87	4.7	0.59300	.	0.271344	0.34531	N	0.003885	T	0.00845	0.0028	N	0.08118	0	0.29267	N	0.870914	B	0.02656	0.0	B	0.04013	0.001	T	0.48163	-0.9059	10	0.09338	T	0.73	.	7.9037	0.29750	0.7915:0.1377:0.0707:0.0	.	1511	O60281	ZN292_HUMAN	R	1511;1506	ENSP00000358590:H1511R;ENSP00000342847:H1506R	ENSP00000342847:H1506R	H	+	2	0	ZNF292	88024598	0.998000	0.40836	0.998000	0.56505	0.824000	0.46624	2.569000	0.45973	1.021000	0.39600	0.533000	0.62120	CAT	ZNF292	-	NULL	ENSG00000188994		0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	117	0.00	0	A	NM_015021		87967879	87967879	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	68	24.44	22	SNP	0.990	G
ZNF692	55657	genome.wustl.edu	37	1	249151656	249151656	+	Silent	SNP	C	C	T			TCGA-AO-A0JF-01A-11W-A071-09	TCGA-AO-A0JF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	191caa1a-5ab8-4db5-b42a-f1c5964b0b0d	58109f2e-3c8d-4313-bc3e-1de6c5b245c4	g.chr1:249151656C>T	ENST00000306601.4	-	4	418	c.252G>A	c.(250-252)gtG>gtA	p.V84V	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000451251.1_Silent_p.V89V|ZNF692_ENST00000366471.3_Silent_p.V84V|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Silent_p.V84V|ZNF692_ENST00000366469.5_Silent_p.V84V	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GAGACAAGAGCACCAGATACT	0.637																																						dbGAP											0													41.0	46.0	45.0					1																	249151656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.252G>A	1.37:g.249151656C>T			B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	NULL	p.C14Y	ENST00000306601.4	37	c.41	CCDS31127.1	1																																																																																			ZNF692	-	NULL	ENSG00000171163		0.637	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	38	0.00	0	C	NM_017865		249151656	249151656	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000477070	ensembl	human	known	69_37n	missense	68	16.05	13	SNP	0.997	T
