#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTN2	88	genome.wustl.edu	37	1	236883433	236883433	+	Silent	SNP	C	C	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:236883433C>A	ENST00000366578.4	+	4	556	c.390C>A	c.(388-390)acC>acA	p.T130T	ACTN2_ENST00000542672.1_Silent_p.T130T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	130	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAAAATGACCCTGGGTATGA	0.328																																						dbGAP											0													131.0	124.0	127.0					1																	236883433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.390C>A	1.37:g.236883433C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.T130	ENST00000366578.4	37	c.390	CCDS1613.1	1																																																																																			ACTN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077522		0.328	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	479	0.00	0	C	NM_001103		236883433	236883433	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	silent	478	10.49	56	SNP	0.981	A
URB1	9875	genome.wustl.edu	37	21	33765616	33765616	+	5'Flank	SNP	G	G	C			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr21:33765616G>C	ENST00000382751.3	-	0	0				C21orf119_ENST00000534991.2_Missense_Mutation_p.A29P	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)							nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GATCCCAGTGGCTCTTCGGGT	0.672											OREG0003538	type=REGULATORY REGION|Gene=C21orf108|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													48.0	56.0	53.0					21																	33765616		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919		21.37:g.33765616G>C	Exception_encountered	Somatic	842	WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	NULL	p.A29P	ENST00000382751.3	37	c.85	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932821	0.34096	.	.	ENSG00000256073	ENST00000534991	.	.	.	2.65	-5.3	0.02738	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33828	-0.9853	5	0.87932	D	0	.	0.4109	0.00441	0.2162:0.2842:0.2133:0.2864	.	.	.	.	P	29	.	ENSP00000442411:A29P	A	+	1	0	C21orf119	32687487	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	0.483000	0.22292	-1.629000	0.01546	-1.098000	0.02139	GCT	C21orf119	-	NULL	ENSG00000256073		0.672	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf119	HGNC	protein_coding	OTTHUMT00000139400.2	83	0.00	0	G			33765616	33765616	+1	no_errors	ENST00000534991	ensembl	human	known	69_37n	missense	37	22.92	11	SNP	0.000	C
CEP128	145508	genome.wustl.edu	37	14	81382827	81382827	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr14:81382827G>T	ENST00000555265.1	-	3	440	c.65C>A	c.(64-66)gCc>gAc	p.A22D	CEP128_ENST00000327841.2_5'UTR|CEP128_ENST00000281129.3_Missense_Mutation_p.A22D|CEP128_ENST00000216517.6_Missense_Mutation_p.A22D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	22						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CGTTGATCTGGCAGCCCATGG	0.423																																						dbGAP											0													156.0	138.0	144.0					14																	81382827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.65C>A	14.37:g.81382827G>T	ENSP00000451162:p.Ala22Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.A22D	ENST00000555265.1	37	c.65	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050320	0.19827	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000555529;ENST00000556042;ENST00000556981	T;T;T;T;T;T	0.58060	1.42;1.42;0.82;0.84;0.85;0.36	5.32	5.32	0.75619	.	0.918506	0.09249	N	0.828149	T	0.50735	0.1633	N	0.24115	0.695	0.80722	D	1	P;P;P	0.44429	0.835;0.835;0.835	P;P;B	0.47645	0.453;0.553;0.318	T	0.43458	-0.9390	10	0.52906	T	0.07	.	14.716	0.69269	0.0:0.0:1.0:0.0	.	22;22;22	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	D	22	ENSP00000281129:A22D;ENSP00000451162:A22D;ENSP00000216517:A22D;ENSP00000451137:A22D;ENSP00000451214:A22D;ENSP00000451428:A22D	ENSP00000216517:A22D	A	-	2	0	CEP128	80452580	0.970000	0.33590	0.975000	0.42487	0.008000	0.06430	2.247000	0.43151	2.941000	0.99782	0.655000	0.94253	GCC	CEP128	-	NULL	ENSG00000100629		0.423	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	332	0.00	0	G	NM_152446		81382827	81382827	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	253	25.73	88	SNP	0.699	T
CHI3L1	1116	genome.wustl.edu	37	1	203152855	203152855	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:203152855G>C	ENST00000255409.3	-	5	504	c.379C>G	c.(379-381)Ctg>Gtg	p.L127V		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	127					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGGTGCGCAGAAATGGCGGT	0.532																																						dbGAP											0													133.0	107.0	116.0					1																	203152855		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.379C>G	1.37:g.203152855G>C	ENSP00000255409:p.Leu127Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L127V	ENST00000255409.3	37	c.379	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420077	0.62622	.	.	ENSG00000133048	ENST00000255409	T	0.06528	3.29	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.44483	D	0.000447	T	0.23249	0.0562	L	0.60012	1.86	0.58432	D	0.99999	D	0.76494	0.999	D	0.87578	0.998	T	0.00039	-1.2242	10	0.87932	D	0	-15.3088	17.3057	0.87194	0.0:0.0:1.0:0.0	.	127	P36222	CH3L1_HUMAN	V	127	ENSP00000255409:L127V	ENSP00000255409:L127V	L	-	1	2	CHI3L1	201419478	1.000000	0.71417	0.974000	0.42286	0.176000	0.22953	4.855000	0.62925	2.664000	0.90586	0.655000	0.94253	CTG	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.532	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	287	0.00	0	G	NM_001276		203152855	203152855	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	missense	206	15.23	37	SNP	1.000	C
DHRS7C	201140	genome.wustl.edu	37	17	9680524	9680524	+	Missense_Mutation	SNP	G	G	A	rs181558671		TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr17:9680524G>A	ENST00000330255.5	-	4	572	c.560C>T	c.(559-561)cCg>cTg	p.P187L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P186L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	187					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CGTACGGAACGGGATTCCAAA	0.423													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	113.0	115.0					17																	9680524		1911	4118	6029	-	-	-	SO:0001583	missense	0				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.560C>T	17.37:g.9680524G>A	ENSP00000327975:p.Pro187Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZW74|B9EJH3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P187L	ENST00000330255.5	37	c.560	CCDS56020.1	17	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.24	1.294450	0.23564	.	.	ENSG00000184544	ENST00000330255	T	0.56776	0.44	5.05	5.05	0.67936	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83852	0.0263	10	0.87932	D	0	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	187;183	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	187	ENSP00000327975:P187L	ENSP00000327975:P187L	P	-	2	0	DHRS7C	9621249	1.000000	0.71417	0.703000	0.30354	0.168000	0.22595	9.037000	0.93765	2.620000	0.88729	0.563000	0.77884	CCG	DHRS7C	-	pfam_DH_sc/Rdtase_SDR	ENSG00000184544		0.423	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	HGNC	protein_coding	OTTHUMT00000439863.1	412	0.00	0	G	XM_113912		9680524	9680524	-1	no_errors	ENST00000330255	ensembl	human	known	69_37n	missense	278	15.96	53	SNP	0.999	A
DSP	1832	genome.wustl.edu	37	6	7570674	7570674	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr6:7570674G>A	ENST00000379802.3	+	13	1920	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	DSP_ENST00000418664.2_Missense_Mutation_p.E527K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	527	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTAGGATTGAGCAGTACTA	0.483																																						dbGAP											0													154.0	141.0	146.0					6																	7570674		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1579G>A	6.37:g.7570674G>A	ENSP00000369129:p.Glu527Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E527K	ENST00000379802.3	37	c.1579	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.527988	0.96446	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.82711	-1.64;-1.64	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000012	D	0.89598	0.6761	M	0.78049	2.395	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	D	0.86809	0.1997	10	0.33940	T	0.23	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	574;527	Q4LE79;P15924	.;DESP_HUMAN	K	527;527;332	ENSP00000369129:E527K;ENSP00000396591:E527K	ENSP00000369129:E527K	E	+	1	0	DSP	7515673	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.790000	0.99075	2.729000	0.93468	0.650000	0.86243	GAG	DSP	-	NULL	ENSG00000096696		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	186	0.00	0	G	NM_004415		7570674	7570674	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	220	16.03	42	SNP	1.000	A
DYRK1A	1859	genome.wustl.edu	37	21	38884440	38884440	+	Missense_Mutation	SNP	A	A	G	rs147650865	byFrequency	TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr21:38884440A>G	ENST00000398960.2	+	11	1973	c.1898A>G	c.(1897-1899)tAc>tGc	p.Y633C	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Y624C|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y405C	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	633					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAAGGGTCTACAATTCTCCA	0.527																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											0													111.0	98.0	102.0					21																	38884440		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1898A>G	21.37:g.38884440A>G	ENSP00000381932:p.Tyr633Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	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.Y633C	ENST00000398960.2	37	c.1898	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861009	0.51482	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.57107	0.42;0.44;0.97	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.63111	-0.6710	10	0.51188	T	0.08	.	15.4723	0.75449	1.0:0.0:0.0:0.0	.	633;624	Q13627;Q13627-2	DYR1A_HUMAN;.	C	624;633;405	ENSP00000340373:Y624C;ENSP00000381932:Y633C;ENSP00000407854:Y405C	ENSP00000340373:Y624C	Y	+	2	0	DYRK1A	37806310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.619000	0.90938	2.056000	0.61249	0.533000	0.62120	TAC	DYRK1A	-	NULL	ENSG00000157540		0.527	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	261	0.00	0	A	NM_001396		38884440	38884440	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	missense	163	32.64	79	SNP	1.000	G
EED	8726	genome.wustl.edu	37	11	85961453	85961453	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr11:85961453A>G	ENST00000263360.6	+	2	916	c.230A>G	c.(229-231)aAa>aGa	p.K77R	EED_ENST00000351625.6_Missense_Mutation_p.K77R|EED_ENST00000327320.4_Missense_Mutation_p.K77R|EED_ENST00000528180.1_Missense_Mutation_p.K77R	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	77					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AAGTCAAAGAAATGCAAATAT	0.393																																						dbGAP											0													90.0	81.0	84.0					11																	85961453		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.230A>G	11.37:g.85961453A>G	ENSP00000263360:p.Lys77Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K77R	ENST00000263360.6	37	c.230	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265992	0.80358	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	T;D;T;T	0.81821	-0.97;-1.54;-0.9;-0.91	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	L	0.39245	1.2	0.80722	D	1	B;B;B;B	0.26635	0.013;0.155;0.007;0.007	B;B;B;B	0.24155	0.012;0.051;0.003;0.009	T	0.68432	-0.5410	9	.	.	.	-2.0126	14.6646	0.68899	1.0:0.0:0.0:0.0	.	77;77;77;77	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	R	77	ENSP00000263360:K77R;ENSP00000431778:K77R;ENSP00000338186:K77R;ENSP00000315587:K77R	.	K	+	2	0	EED	85639101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.182000	0.94881	1.860000	0.53959	0.473000	0.43528	AAA	EED	-	NULL	ENSG00000074266		0.393	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	214	0.00	0	A	NM_003797		85961453	85961453	+1	no_errors	ENST00000263360	ensembl	human	known	69_37n	missense	201	15.55	37	SNP	1.000	G
EFTUD2	9343	genome.wustl.edu	37	17	42929146	42929146	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr17:42929146G>A	ENST00000426333.2	-	27	3052	c.2755C>T	c.(2755-2757)Cgc>Tgc	p.R919C	EFTUD2_ENST00000402521.3_Missense_Mutation_p.R884C|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R909C|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R919C	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	919					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCCAAGGGGCGGATGACAATG	0.552																																					Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													36.0	31.0	33.0					17																	42929146		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2755C>T	17.37:g.42929146G>A	ENSP00000392094:p.Arg919Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.R919C	ENST00000426333.2	37	c.2755	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.264974	0.80358	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.30981	1.51;1.51	5.15	5.15	0.70609	Translation elongation factor EFG/EF2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	T	0.67864	-0.5560	10	0.66056	D	0.02	-18.6966	14.9364	0.70960	0.0:0.0:0.8566:0.1434	.	909;919	B4DMC0;Q15029	.;U5S1_HUMAN	C	919;909;884	ENSP00000392094:R919C;ENSP00000385873:R884C	ENSP00000262414:R909C	R	-	1	0	EFTUD2	40284672	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.983000	0.40648	2.861000	0.98227	0.650000	0.86243	CGC	EFTUD2	-	NULL	ENSG00000108883		0.552	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	110	0.00	0	G	NM_004247		42929146	42929146	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	missense	56	50.86	59	SNP	0.999	A
ETS1	2113	genome.wustl.edu	37	11	128443000	128443000	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr11:128443000C>T	ENST00000392668.4	-	2	110	c.26G>A	c.(25-27)gGg>gAg	p.G9E	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGGGCTGCTCCCAGCAGAATC	0.572																																						dbGAP											0													45.0	53.0	50.0					11																	128443000		1565	3577	5142	-	-	-	SO:0001583	missense	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.26G>A	11.37:g.128443000C>T	ENSP00000376436:p.Gly9Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	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.G9E	ENST00000392668.4	37	c.26	CCDS44767.1	11	.	.	.	.	.	.	.	.	.	.	C	8.582	0.882466	0.17467	.	.	ENSG00000134954	ENST00000392668	T	0.11063	2.81	5.06	-0.993	0.10228	.	0.106561	0.64402	D	0.000012	T	0.06280	0.0162	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25467	-1.0131	9	0.45353	T	0.12	.	5.0362	0.14436	0.4484:0.1795:0.3721:0.0	.	9	Q6N087	.	E	9	ENSP00000376436:G9E	ENSP00000376436:G9E	G	-	2	0	ETS1	127948210	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.524000	0.22940	-0.062000	0.13088	-1.193000	0.01689	GGG	ETS1	-	pirsf_Transforming_factor_C-ets	ENSG00000134954		0.572	ETS1-002	KNOWN	basic|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386267.2	141	0.00	0	C	NM_005238		128443000	128443000	-1	no_errors	ENST00000392668	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	0.000	T
GPR61	83873	genome.wustl.edu	37	1	110086562	110086562	+	Silent	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:110086562C>T	ENST00000527748.1	+	2	1601	c.918C>T	c.(916-918)ttC>ttT	p.F306F	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACTTCTCTTTCCACCTCTATG	0.557																																						dbGAP											0													117.0	124.0	121.0					1																	110086562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.918C>T	1.37:g.110086562C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F306	ENST00000527748.1	37	c.918	CCDS801.1	1																																																																																			GPR61	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000156097		0.557	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GPR61	HGNC	protein_coding	OTTHUMT00000385575.1	207	0.00	0	C			110086562	110086562	+1	no_errors	ENST00000404129	ensembl	human	known	69_37n	silent	136	16.05	26	SNP	1.000	T
KCNJ6	3763	genome.wustl.edu	37	21	39086565	39086565	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr21:39086565T>C	ENST00000609713.1	-	3	1484	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.K299E	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	299					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGTTCCTCTTTGGGCAGCTGG	0.488																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0													111.0	115.0	114.0					21																	39086565		1952	4169	6121	-	-	-	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.895A>G	21.37:g.39086565T>C	ENSP00000477437:p.Lys299Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2	p.K299E	ENST00000609713.1	37	c.895	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324339	0.41197	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.93604	-3.25;-3.25	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.041092	0.85682	D	0.000000	D	0.89262	0.6665	L	0.31207	0.915	0.50632	D	0.99988	B	0.21520	0.057	B	0.20384	0.029	D	0.85029	0.0916	10	0.27785	T	0.31	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	299	P48051	IRK6_HUMAN	E	299	ENSP00000383330:K299E;ENSP00000288309:K299E	ENSP00000288309:K299E	K	-	1	0	KCNJ6	38008435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.234000	0.72326	2.371000	0.80710	0.533000	0.62120	AAA	KCNJ6	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	ENSG00000157542		0.488	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	204	0.00	0	T	NM_002240		39086565	39086565	-1	no_errors	ENST00000288309	ensembl	human	known	69_37n	missense	124	23.46	38	SNP	1.000	C
LHFPL4	375323	genome.wustl.edu	37	3	9594129	9594129	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr3:9594129C>G	ENST00000287585.6	-	2	520	c.235G>C	c.(235-237)Ggc>Cgc	p.G79R	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	92						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GTGAAGGAGCCCCGGCAGGTG	0.677																																						dbGAP											0													35.0	39.0	38.0					3																	9594129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.235G>C	3.37:g.9594129C>G	ENSP00000287585:p.Gly79Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L383|A4D0Q5	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.G79R	ENST00000287585.6	37	c.235	CCDS33691.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596426	0.86953	.	.	ENSG00000156959	ENST00000287585	T	0.71222	-0.55	3.81	3.81	0.43845	.	0.068429	0.56097	D	0.000026	D	0.85405	0.5689	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87681	0.2547	10	0.49607	T	0.09	-17.5776	16.2293	0.82321	0.0:1.0:0.0:0.0	.	79	Q7Z7J7	LHPL4_HUMAN	R	79	ENSP00000287585:G79R	ENSP00000287585:G79R	G	-	1	0	LHFPL4	9569129	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	7.577000	0.82486	2.116000	0.64780	0.313000	0.20887	GGC	LHFPL4	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000156959		0.677	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	HGNC	protein_coding	OTTHUMT00000338298.1	51	0.00	0	C	NM_198560		9594129	9594129	-1	no_errors	ENST00000287585	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	G
MGA	23269	genome.wustl.edu	37	15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr15:42032290C>T	ENST00000570161.1	+	13	4474	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_ENST00000545763.1_Missense_Mutation_p.R1492C|MGA_ENST00000566586.1_Missense_Mutation_p.R1492C|MGA_ENST00000389936.4_Missense_Mutation_p.R1492C|MGA_ENST00000219905.7_Missense_Mutation_p.R1492C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGGAAACCACGTACCCTGTT	0.532																																						dbGAP											0													115.0	115.0	115.0					15																	42032290		2056	4206	6262	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4474C>T	15.37:g.42032290C>T	ENSP00000457035:p.Arg1492Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.R1492C	ENST00000570161.1	37	c.4474	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332914	0.81801	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85411	-1.98;-1.95;-1.97	6.17	6.17	0.99709	.	0.703272	0.13302	N	0.398195	D	0.84848	0.5563	N	0.19112	0.55	0.41340	D	0.987292	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62184	0.642;0.899;0.854	D	0.83398	0.0021	10	0.87932	D	0	.	9.6433	0.39853	0.0:0.8857:0.0:0.1143	.	108;1492;1492	B4DVS1;F5H7K2;E7ENI0	.;.;.	C	1492	ENSP00000219905:R1492C;ENSP00000374586:R1492C;ENSP00000442467:R1492C	ENSP00000219905:R1492C	R	+	1	0	MGA	39819582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.888000	0.48594	2.941000	0.99782	0.655000	0.94253	CGT	MGA	-	NULL	ENSG00000174197		0.532	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	249	0.00	0	C	NM_001164273.1		42032290	42032290	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	192	12.73	28	SNP	1.000	T
MYH4	4622	genome.wustl.edu	37	17	10346782	10346782	+	Silent	SNP	G	G	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr17:10346782G>T	ENST00000255381.2	-	40	5840	c.5730C>A	c.(5728-5730)gcC>gcA	p.A1910A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1910					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCCGTTCCTTGGCCTCCTCCA	0.463																																						dbGAP											0													134.0	123.0	127.0					17																	10346782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5730C>A	17.37:g.10346782G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1910	ENST00000255381.2	37	c.5730	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	477	0.00	0	G	NM_017533		10346782	10346782	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	silent	327	18.66	75	SNP	0.086	T
NR1H2	7376	genome.wustl.edu	37	19	50885244	50885244	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr19:50885244A>T	ENST00000253727.5	+	9	1284	c.1049A>T	c.(1048-1050)aAc>aTc	p.N350I	NR1H2_ENST00000411902.2_Missense_Mutation_p.N253I|NR1H2_ENST00000542413.1_Missense_Mutation_p.N81I|POLD1_ENST00000599857.1_5'Flank|POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000593926.1_Missense_Mutation_p.N350I|NR1H2_ENST00000598168.1_Missense_Mutation_p.N320I|NR1H2_ENST00000599105.1_Missense_Mutation_p.N306I	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	350	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GAGTTCATCAACCCCATCTTC	0.682																																						dbGAP											0													15.0	19.0	17.0					19																	50885244		2171	4276	6447	-	-	-	SO:0001583	missense	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1049A>T	19.37:g.50885244A>T	ENSP00000253727:p.Asn350Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.N350I	ENST00000253727.5	37	c.1049	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785771	0.70337	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.96774	-3.65;-4.12;-4.12	3.62	2.58	0.30949	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.226699	0.27181	N	0.020557	D	0.97105	0.9054	M	0.65975	2.015	0.41829	D	0.990061	D;D;D	0.89917	0.988;1.0;0.998	P;D;D	0.83275	0.906;0.996;0.943	D	0.96255	0.9186	10	0.72032	D	0.01	.	9.3802	0.38309	0.8196:0.1804:0.0:0.0	.	350;253;351	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	I	81;350;253;350	ENSP00000445074:N81I;ENSP00000253727:N350I;ENSP00000396151:N253I	ENSP00000253727:N350I	N	+	2	0	NR1H2	55577056	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	8.464000	0.90380	0.565000	0.29255	0.368000	0.22195	AAC	NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Ecdystd_rcpt	ENSG00000131408		0.682	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	35	0.00	0	A			50885244	50885244	+1	no_errors	ENST00000253727	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	T
PCDHA1	56147	genome.wustl.edu	37	5	140167773	140167773	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr5:140167773C>T	ENST00000504120.2	+	1	1898	c.1898C>T	c.(1897-1899)aCg>aTg	p.T633M	PCDHA1_ENST00000378133.3_Missense_Mutation_p.T633M|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T633M(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCAGCACGACTCGTGTC	0.657																																						dbGAP											2	Substitution - Missense(2)	lung(2)											84.0	88.0	87.0					5																	140167773		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1898C>T	5.37:g.140167773C>T	ENSP00000420840:p.Thr633Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T633M	ENST00000504120.2	37	c.1898	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	15.21	2.765211	0.49574	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.56941	0.43;0.43	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.38959	U	0.001505	T	0.75532	0.3862	H	0.96633	3.855	0.32393	N	0.553013	D;D	0.71674	0.998;0.995	P;P	0.59288	0.855;0.773	D	0.83473	0.0060	10	0.72032	D	0.01	.	9.0575	0.36414	0.0:0.8945:0.0:0.1055	.	633;633	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	M	633	ENSP00000420840:T633M;ENSP00000367373:T633M	ENSP00000367373:T633M	T	+	2	0	PCDHA1	140147957	0.926000	0.31397	0.786000	0.31890	0.354000	0.29330	3.048000	0.49862	1.572000	0.49736	0.484000	0.47621	ACG	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	82	0.00	0	C	NM_018900		140167773	140167773	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.994	T
PCDHGB2	56103	genome.wustl.edu	37	5	140741005	140741005	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr5:140741005A>G	ENST00000522605.1	+	1	1303	c.1303A>G	c.(1303-1305)Agc>Ggc	p.S435G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTCCTCCAGCATAATTGT	0.547																																						dbGAP											0													92.0	98.0	96.0					5																	140741005		2071	4204	6275	-	-	-	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1303A>G	5.37:g.140741005A>G	ENSP00000429018:p.Ser435Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S435G	ENST00000522605.1	37	c.1303	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	11.29	1.596016	0.28445	.	.	ENSG00000253910	ENST00000522605	T	0.01804	4.63	5.41	4.17	0.49024	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.12689	0.0308	M	0.94142	3.5	0.20926	N	0.999825	D;P	0.61697	0.99;0.925	P;P	0.62014	0.897;0.794	T	0.07520	-1.0768	9	0.54805	T	0.06	.	10.2365	0.43286	0.7622:0.0:0.0:0.2378	.	435;435	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	G	435	ENSP00000429018:S435G	ENSP00000429018:S435G	S	+	1	0	PCDHGB2	140721189	0.000000	0.05858	0.416000	0.26546	0.297000	0.27493	0.946000	0.29069	2.168000	0.68352	0.460000	0.39030	AGC	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253910		0.547	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	103	0.00	0	A	NM_018923		140741005	140741005	+1	no_errors	ENST00000522605	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	0.806	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	213	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	169	51.44	179	SNP	1.000	G
PRKCZ	5590	genome.wustl.edu	37	1	2103803	2103803	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:2103803G>A	ENST00000400921.2	+	10	1395	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PRKCZ_ENST00000400920.1_Missense_Mutation_p.E238K|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	421					actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CATCGCCCCCGAAATCCTGCG	0.642																																						dbGAP											0													56.0	49.0	51.0					1																	2103803		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.712G>A	1.37:g.2103803G>A	ENSP00000383712:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E421K	ENST00000400921.2	37	c.1261	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234290	0.79688	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89581	0.6756	H	0.99906	4.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94351	0.7579	10	0.87932	D	0	.	16.6741	0.85274	0.0:0.0:1.0:0.0	.	317;245;317;421	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	K	421;238;317;238	ENSP00000367830:E421K;ENSP00000383712:E238K;ENSP00000426412:E317K;ENSP00000383711:E238K	ENSP00000367830:E421K	E	+	1	0	PRKCZ	2093663	1.000000	0.71417	0.915000	0.36163	0.010000	0.07245	9.219000	0.95173	2.603000	0.88011	0.655000	0.94253	GAA	PRKCZ	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom	ENSG00000067606		0.642	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	81	0.00	0	G	NM_002744		2103803	2103803	+1	no_errors	ENST00000378567	ensembl	human	known	69_37n	missense	54	12.90	8	SNP	1.000	A
PLCH2	9651	genome.wustl.edu	37	1	2430566	2430566	+	Silent	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:2430566C>T	ENST00000419816.2	+	19	2752	c.2478C>T	c.(2476-2478)caC>caT	p.H826H	PLCH2_ENST00000378488.3_Silent_p.H790H|PLCH2_ENST00000378486.3_Silent_p.H826H|PLCH2_ENST00000449969.1_Silent_p.H799H|PLCH2_ENST00000288766.5_Silent_p.H114H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	826	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCATGGTGCACATGCCGGAGA	0.652																																						dbGAP											0													45.0	51.0	49.0					1																	2430566		2161	4267	6428	-	-	-	SO:0001819	synonymous_variant	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2478C>T	1.37:g.2430566C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PLipase_C_Pinositol-sp_Y,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_Pinositol-sp_Y	p.T121I	ENST00000419816.2	37	c.362		1	.	.	.	.	.	.	.	.	.	.	c	1.205	-0.631433	0.03584	.	.	ENSG00000149527	ENST00000419816	.	.	.	5.03	2.13	0.27403	.	.	.	.	.	T	0.58004	0.2092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52071	-0.8624	4	.	.	.	.	9.2617	0.37616	0.0:0.7616:0.0:0.2384	.	.	.	.	I	121	.	.	T	+	2	0	PLCH2	2420426	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	1.247000	0.32815	0.524000	0.28502	-0.261000	0.10672	ACA	PLCH2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000149527		0.652	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	96	0.00	0	C	NM_014638		2430566	2430566	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419816	ensembl	human	known	69_37n	missense	54	24.66	18	SNP	1.000	T
SHROOM2	357	genome.wustl.edu	37	X	9905362	9905362	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chrX:9905362G>A	ENST00000380913.3	+	7	3866	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R94H	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1259					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TTCTACTCGCGCTTCTGTCTG	0.682																																						dbGAP											0													44.0	38.0	40.0					X																	9905362		2200	4298	6498	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3776G>A	X.37:g.9905362G>A	ENSP00000370299:p.Arg1259His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1259H	ENST00000380913.3	37	c.3776	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238115	0.39598	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.46819	2.39;1.45;0.86	4.98	4.98	0.66077	.	0.134522	0.52532	D	0.000077	T	0.53850	0.1822	L	0.55481	1.735	0.43724	D	0.996207	B;D	0.56746	0.332;0.977	B;P	0.49047	0.021;0.599	T	0.59473	-0.7448	10	0.59425	D	0.04	-22.2099	17.5018	0.87734	0.0:0.0:1.0:0.0	.	94;1259	Q68DU3;Q13796	.;SHRM2_HUMAN	H	1259;94;94;94	ENSP00000370299:R1259H;ENSP00000415229:R94H;ENSP00000406724:R94H	ENSP00000370299:R1259H	R	+	2	0	SHROOM2	9865362	1.000000	0.71417	0.995000	0.50966	0.362000	0.29581	2.141000	0.42168	2.059000	0.61396	0.594000	0.82650	CGC	SHROOM2	-	NULL	ENSG00000146950		0.682	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	75	0.00	0	G	NM_001649		9905362	9905362	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	39	16.67	8	SNP	1.000	A
TEX15	56154	genome.wustl.edu	37	8	30695338	30695338	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr8:30695338C>G	ENST00000256246.2	-	3	7387	c.7313G>C	c.(7312-7314)aGa>aCa	p.R2438T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2438					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTCACATTTCTTTTCTTCAT	0.358																																						dbGAP											0													183.0	186.0	185.0					8																	30695338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7313G>C	8.37:g.30695338C>G	ENSP00000256246:p.Arg2438Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R2438T	ENST00000256246.2	37	c.7313	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	8.373	0.835656	0.16820	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	4.31	-2.29	0.06805	.	1.813650	0.02591	N	0.099978	T	0.09949	0.0244	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.39418	-0.9615	10	0.87932	D	0	.	5.3595	0.16079	0.0:0.2602:0.4541:0.2856	.	2438	Q9BXT5	TEX15_HUMAN	T	2438	ENSP00000256246:R2438T	ENSP00000256246:R2438T	R	-	2	0	TEX15	30814880	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.192000	0.09587	-0.357000	0.08175	-1.373000	0.01185	AGA	TEX15	-	NULL	ENSG00000133863		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	345	0.00	0	C			30695338	30695338	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	538	30.63	238	SNP	0.000	G
TEX15	56154	genome.wustl.edu	37	8	30695359	30695359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr8:30695359delT	ENST00000256246.2	-	3	7366	c.7292delA	c.(7291-7293)aatfs	p.N2431fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358																																						dbGAP											0													190.0	193.0	192.0					8																	30695359		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7292delA	8.37:g.30695359delT	ENSP00000256246:p.Asn2431fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.N2431fs	ENST00000256246.2	37	c.7292	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	390	0.00	0	T			30695359	30695359	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	frame_shift_del	622	28.62	255	DEL	0.000	-
TEX15	56154	genome.wustl.edu	37	8	30695512	30695512	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr8:30695512C>A	ENST00000256246.2	-	3	7213	c.7139G>T	c.(7138-7140)aGa>aTa	p.R2380I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2380					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAATGATTTCTTTTCAGACT	0.373																																						dbGAP											0													144.0	145.0	145.0					8																	30695512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7139G>T	8.37:g.30695512C>A	ENSP00000256246:p.Arg2380Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R2380I	ENST00000256246.2	37	c.7139	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391486	0.62066	.	.	ENSG00000133863	ENST00000256246	T	0.11712	2.75	4.81	2.85	0.33270	.	0.407829	0.21254	N	0.077591	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	0.999999	D	0.54047	0.964	P	0.53185	0.72	T	0.05037	-1.0910	10	0.87932	D	0	.	5.1972	0.15245	0.2034:0.6927:0.0:0.1039	.	2380	Q9BXT5	TEX15_HUMAN	I	2380	ENSP00000256246:R2380I	ENSP00000256246:R2380I	R	-	2	0	TEX15	30815054	0.137000	0.22531	0.158000	0.22627	0.160000	0.22226	0.422000	0.21296	1.347000	0.45714	0.462000	0.41574	AGA	TEX15	-	NULL	ENSG00000133863		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	394	0.00	0	C			30695512	30695512	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	662	29.80	281	SNP	0.061	A
TMEM117	84216	genome.wustl.edu	37	12	44238679	44238679	+	Silent	SNP	C	C	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr12:44238679C>T	ENST00000266534.3	+	2	352	c.225C>T	c.(223-225)gcC>gcT	p.A75A	TMEM117_ENST00000551577.1_Silent_p.A75A|TMEM117_ENST00000536799.1_Missense_Mutation_p.H5Y	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	75						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGCTACTTGCCATTCTCACAG	0.363																																						dbGAP											0													96.0	99.0	98.0					12																	44238679		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.225C>T	12.37:g.44238679C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H5Y	ENST00000266534.3	37	c.13	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801053	0.50315	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.72	3.8	0.43715	.	.	.	.	.	T	0.42607	0.1210	.	.	.	0.26404	N	0.976376	P	0.52692	0.955	P	0.46850	0.529	T	0.32877	-0.9890	7	0.87932	D	0	-15.9725	9.4486	0.38712	0.2402:0.6918:0.0:0.068	.	5	F5H3Q2	.	Y	5	.	ENSP00000445243:H5Y	H	+	1	0	TMEM117	42524946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.952000	0.40343	1.554000	0.49487	0.650000	0.86243	CAT	TMEM117	-	NULL	ENSG00000139173		0.363	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	191	0.00	0	C	NM_032256		44238679	44238679	+1	no_errors	ENST00000536799	ensembl	human	known	69_37n	missense	153	21.54	42	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97.0	87.0	90.0					17																	7578271		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H193R	ENST00000269305.4	37	c.578	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	300	0.00	0	T	NM_000546		7578271	7578271	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	151	30.45	67	SNP	0.998	C
TSEN15	116461	genome.wustl.edu	37	1	184023924	184023924	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15E-01A-11D-A12B-09	TCGA-E2-A15E-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6f107df-1186-4d6d-b5b5-2393e9369dd1	1cdbe17e-c0ed-45a4-b4bb-6464cfb60817	g.chr1:184023924G>T	ENST00000361641.1	+	3	359	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	TSEN15_ENST00000533373.1_Missense_Mutation_p.G94C|TSEN15_ENST00000423085.2_Missense_Mutation_p.G94C	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	94					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						CTGCCTTGTTGGTACTGAGAT	0.458																																						dbGAP											0													64.0	57.0	60.0					1																	184023924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"""tRNA splicing endonuclease subunits"""	16791	protein-coding gene	gene with protein product		608756	"""chromosome 1 open reading frame 19"", ""tRNA splicing endonuclease 15 homolog (S. cerevisiae)"""	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.280G>T	1.37:g.184023924G>T	ENSP00000355299:p.Gly94Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKP0|Q9BZQ5	Missense_Mutation	SNP	pfam_tRNA-endonuc_su_Sen15	p.G94C	ENST00000361641.1	37	c.280	CCDS1361.1	1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517973	0.64634	.	.	ENSG00000198860	ENST00000361641;ENST00000533373;ENST00000423085	T;T;T	0.68025	-0.3;-0.3;-0.3	5.27	4.36	0.52297	tRNA-intron endonuclease, Sen15 domain (1);	0.111095	0.64402	D	0.000015	T	0.74329	0.3702	L	0.48642	1.525	0.47994	D	0.999563	D;D	0.89917	1.0;1.0	D;D	0.83275	0.979;0.996	T	0.75991	-0.3122	10	0.87932	D	0	-13.8362	9.8823	0.41240	0.0919:0.0:0.9081:0.0	.	94;94	B4DKP0;Q8WW01	.;SEN15_HUMAN	C	94	ENSP00000355299:G94C;ENSP00000436996:G94C;ENSP00000402002:G94C	ENSP00000355299:G94C	G	+	1	0	TSEN15	182290547	1.000000	0.71417	0.865000	0.33974	0.978000	0.69477	4.742000	0.62103	1.448000	0.47680	0.650000	0.86243	GGT	TSEN15	-	pfam_tRNA-endonuc_su_Sen15	ENSG00000198860		0.458	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN15	HGNC	protein_coding	OTTHUMT00000086132.1	302	0.33	1	G			184023924	184023924	+1	no_errors	ENST00000361641	ensembl	human	known	69_37n	missense	290	12.61	42	SNP	0.911	T
