#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANGPT4	51378	genome.wustl.edu	37	20	853640	853640	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr20:853640C>T	ENST00000381922.3	-	9	1577	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	492	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGAGAGGCACGCAGTGAGTA	0.572																																					Pancreas(181;481 2077 3259 31286 49856)	dbGAP											0													134.0	118.0	123.0					20																	853640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1475G>A	20.37:g.853640C>T	ENSP00000371347:p.Arg492His		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.R492H	ENST00000381922.3	37	c.1475	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089882	0.36855	.	.	ENSG00000101280	ENST00000381922	T	0.21543	2.0	4.25	3.29	0.37713	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.074260	0.53938	N	0.000050	T	0.17619	0.0423	L	0.56769	1.78	0.80722	D	1	P	0.47962	0.903	B	0.39027	0.288	T	0.02728	-1.1118	10	0.59425	D	0.04	.	5.1263	0.14886	0.0:0.6414:0.0:0.3586	.	492	Q9Y264	ANGP4_HUMAN	H	492	ENSP00000371347:R492H	ENSP00000371347:R492H	R	-	2	0	ANGPT4	801640	0.967000	0.33354	0.771000	0.31576	0.622000	0.37654	2.153000	0.42282	0.979000	0.38497	0.491000	0.48974	CGT	ANGPT4	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000101280		0.572	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	92	0.00	0	C	NM_015985		853640	853640	-1	no_errors	ENST00000381922	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	0.840	T
ANO4	121601	genome.wustl.edu	37	12	101188653	101188653	+	5'Flank	SNP	G	G	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr12:101188653G>T	ENST00000392977.3	+	0	0				ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000299222.9_5'Flank|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000538618.1_Intron			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCTGAAAAGGACTTGTGTGT	0.537										HNSCC(74;0.22)																												dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45			12.37:g.101188653G>T	Exception_encountered		Q8NAJ0|Q8NB39|Q8NB53	RNA	SNP	-	NULL	ENST00000392977.3	37	NULL		12																																																																																			ANO4	-	-	ENSG00000151572		0.537	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	21	0.00	0	G	NM_178826		101188653	101188653	+1	no_errors	ENST00000551148	ensembl	human	putative	69_37n	rna	20	31.03	9	SNP	1.000	T
APBB3	10307	genome.wustl.edu	37	5	139938256	139938256	+	Missense_Mutation	SNP	C	C	T	rs529722873		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr5:139938256C>T	ENST00000357560.4	-	13	1818	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	APBB3_ENST00000358580.5_3'UTR|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000412920.3_Missense_Mutation_p.G457S|APBB3_ENST00000356738.2_Missense_Mutation_p.G464S|APBB3_ENST00000508496.2_Missense_Mutation_p.G236S|APBB3_ENST00000354402.5_Missense_Mutation_p.G466S|SRA1_ENST00000520427.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	459						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCTGCACCGCCAACCCCT	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18571	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													45.0	52.0	50.0					5																	139938256		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1375G>A	5.37:g.139938256C>T	ENSP00000350171:p.Gly459Ser		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.G464S	ENST00000357560.4	37	c.1390	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661970	0.29515	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.44881	1.95;1.95;1.95;0.91;1.95	4.24	2.46	0.29980	.	0.665350	0.14100	N	0.341446	T	0.29355	0.0731	N	0.14661	0.345	0.80722	D	1	D;D	0.56035	0.966;0.974	P;P	0.49387	0.528;0.609	T	0.02837	-1.1104	9	.	.	.	-3.6705	6.0171	0.19608	0.0:0.6792:0.0:0.3208	.	457;464	O95704-2;O95704-3	.;.	S	464;466;459;236;457	ENSP00000349177:G464S;ENSP00000346378:G466S;ENSP00000350171:G459S;ENSP00000444013:G236S;ENSP00000402591:G457S	.	G	-	1	0	APBB3	139918440	0.532000	0.26346	0.997000	0.53966	0.985000	0.73830	0.561000	0.23515	0.446000	0.26666	-0.463000	0.05309	GGT	APBB3	-	NULL	ENSG00000113108		0.632	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	26	0.00	0	C	NM_006051		139938256	139938256	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.989	T
ASXL1	171023	genome.wustl.edu	37	20	31021321	31021321	+	Silent	SNP	A	A	G			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr20:31021321A>G	ENST00000375687.4	+	12	1744	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	ASXL1_ENST00000306058.5_Silent_p.K435K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	440	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGATGCAAAATCTGTGGCCT	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													99.0	97.0	97.0					20																	31021321		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1320A>G	20.37:g.31021321A>G			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.K440	ENST00000375687.4	37	c.1320	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	21	0.00	0	A	NM_015338		31021321	31021321	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.210	G
B3GALT2	8707	genome.wustl.edu	37	1	193150064	193150064	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:193150064C>G	ENST00000367434.4	-	2	1384	c.629G>C	c.(628-630)aGa>aCa	p.R210T	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	210					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						ATGATATTGTCTGCTTTCTTC	0.353																																						dbGAP											0													150.0	146.0	147.0					1																	193150064		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.629G>C	1.37:g.193150064C>G	ENSP00000356404:p.Arg210Thr		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.R210T	ENST00000367434.4	37	c.629	CCDS1383.1	1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453910	0.43531	.	.	ENSG00000162630	ENST00000367434	T	0.48201	0.82	5.68	2.79	0.32731	.	0.292819	0.35466	N	0.003184	T	0.44540	0.1298	L	0.46670	1.46	0.46774	D	0.999199	P	0.37688	0.605	P	0.44921	0.464	T	0.18147	-1.0346	10	0.35671	T	0.21	.	8.4867	0.33076	0.1262:0.7407:0.0:0.1331	.	210	O43825	B3GT2_HUMAN	T	210	ENSP00000356404:R210T	ENSP00000356404:R210T	R	-	2	0	B3GALT2	191416687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.227000	0.32576	0.325000	0.23359	0.650000	0.86243	AGA	B3GALT2	-	pfam_Glyco_trans_31	ENSG00000162630		0.353	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT2	HGNC	protein_coding	OTTHUMT00000086759.1	28	0.00	0	C	NM_003783		193150064	193150064	-1	no_errors	ENST00000367434	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	G
AVPR1B	553	genome.wustl.edu	37	1	206231084	206231084	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:206231084C>T	ENST00000367126.4	+	2	1682	c.1217C>T	c.(1216-1218)tCa>tTa	p.S406L		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	406					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGAAGAGTCACCAAGGGAC	0.637																																						dbGAP											0													35.0	43.0	40.0					1																	206231084		2203	4296	6499	-	-	-	SO:0001583	missense	0			D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.1217C>T	1.37:g.206231084C>T	ENSP00000356094:p.Ser406Leu		B0M0J6|Q5TZ00	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt	p.S406L	ENST00000367126.4	37	c.1217	CCDS30994.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685064	0.47991	.	.	ENSG00000198049	ENST00000367126	T	0.63580	-0.05	5.94	3.95	0.45737	.	3.594960	0.00923	N	0.002614	T	0.59432	0.2193	L	0.56769	1.78	0.09310	N	1	P	0.35433	0.501	B	0.25140	0.058	T	0.53844	-0.8381	10	0.54805	T	0.06	-0.9612	10.2962	0.43625	0.1937:0.687:0.1192:0.0	.	406	P47901	V1BR_HUMAN	L	406	ENSP00000356094:S406L	ENSP00000356094:S406L	S	+	2	0	AVPR1B	204397707	0.000000	0.05858	0.010000	0.14722	0.022000	0.10575	0.331000	0.19733	2.816000	0.96949	0.563000	0.77884	TCA	AVPR1B	-	NULL	ENSG00000198049		0.637	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1B	HGNC	protein_coding	OTTHUMT00000087996.1	45	0.00	0	C	NM_000707		206231084	206231084	+1	no_errors	ENST00000367126	ensembl	human	known	69_37n	missense	51	10.53	6	SNP	0.001	T
CLUL1	27098	genome.wustl.edu	37	18	627251	627251	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr18:627251C>T	ENST00000400606.2	+	5	723	c.578C>T	c.(577-579)tCt>tTt	p.S193F	CLUL1_ENST00000338387.7_Missense_Mutation_p.S193F|CLUL1_ENST00000579494.1_Missense_Mutation_p.S193F|CLUL1_ENST00000581619.1_Missense_Mutation_p.S218F|CLUL1_ENST00000540035.1_Missense_Mutation_p.S245F	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	193					cell death (GO:0008219)	extracellular region (GO:0005576)		p.S193F(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATGTGAATTCTCTCTTTAAC	0.408																																						dbGAP											1	Substitution - Missense(1)	lung(1)											216.0	199.0	204.0					18																	627251		1917	4144	6061	-	-	-	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.578C>T	18.37:g.627251C>T	ENSP00000383449:p.Ser193Phe		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.S193F	ENST00000400606.2	37	c.578	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.634308	0.00806	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.23950	1.88;1.88;1.88	5.6	2.6	0.31112	Clusterin, N-terminal (1);	0.369438	0.31051	N	0.008344	T	0.08223	0.0205	N	0.03608	-0.345	0.09310	N	1	B;B	0.15141	0.01;0.012	B;B	0.17433	0.01;0.018	T	0.36456	-0.9747	10	0.07990	T	0.79	-0.7006	4.4555	0.11642	0.0:0.5246:0.165:0.3104	.	245;193	F5GWQ8;Q15846	.;CLUL1_HUMAN	F	193;245;193	ENSP00000383449:S193F;ENSP00000441726:S245F;ENSP00000341128:S193F	ENSP00000341128:S193F	S	+	2	0	CLUL1	617251	0.155000	0.22806	0.103000	0.21229	0.165000	0.22458	1.626000	0.37039	0.206000	0.20587	0.561000	0.74099	TCT	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N	ENSG00000079101		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	81	0.00	0	C			627251	627251	+1	no_errors	ENST00000338387	ensembl	human	known	69_37n	missense	37	43.08	28	SNP	0.009	T
DNAH2	146754	genome.wustl.edu	37	17	7736205	7736205	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr17:7736205G>A	ENST00000572933.1	+	84	14397	c.12937G>A	c.(12937-12939)Gtt>Att	p.V4313I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V4313I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4313					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAGTTTATCGTTTCCACTGT	0.522																																						dbGAP											0													244.0	257.0	252.0					17																	7736205		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12937G>A	17.37:g.7736205G>A	ENSP00000458355:p.Val4313Ile		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.V4313I	ENST00000572933.1	37	c.12937	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275722	0.80580	.	.	ENSG00000183914	ENST00000389173	T	0.11385	2.78	4.5	4.5	0.54988	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.25269	0.0614	M	0.77313	2.365	0.80722	D	1	D	0.60575	0.988	P	0.51895	0.683	T	0.04650	-1.0936	10	0.45353	T	0.12	.	16.3346	0.83053	0.0:0.0:1.0:0.0	.	4313	Q9P225	DYH2_HUMAN	I	4313	ENSP00000373825:V4313I	ENSP00000373825:V4313I	V	+	1	0	DNAH2	7676930	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.287000	0.89918	2.232000	0.73038	0.467000	0.42956	GTT	DNAH2	-	pfam_Dynein_heavy	ENSG00000183914		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	68	0.00	0	G	NM_020877		7736205	7736205	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	A
DPP10	57628	genome.wustl.edu	37	2	116535382	116535382	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr2:116535382T>A	ENST00000410059.1	+	15	1813	c.1333T>A	c.(1333-1335)Tct>Act	p.S445T	DPP10_ENST00000310323.8_Missense_Mutation_p.S438T|DPP10_ENST00000409163.1_Missense_Mutation_p.S395T|DPP10_ENST00000393147.2_Missense_Mutation_p.S449T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	445						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAGCACTGAATCTTCTCCCAG	0.408																																						dbGAP											0													161.0	141.0	148.0					2																	116535382		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1333T>A	2.37:g.116535382T>A	ENSP00000386565:p.Ser445Thr		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S449T	ENST00000410059.1	37	c.1345	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	12.49	1.953411	0.34471	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.34	-5.99	0.02213	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	1.197580	0.05833	N	0.617909	T	0.12944	0.0314	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.22591	-1.0212	10	0.37606	T	0.19	-24.3601	0.9372	0.01347	0.448:0.1581:0.2007:0.1932	.	438;449;441;445	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	T	445;395;449;438;395	ENSP00000386565:S445T;ENSP00000387038:S395T;ENSP00000376855:S449T;ENSP00000309066:S438T	ENSP00000309066:S438T	S	+	1	0	DPP10	116251852	0.287000	0.24315	0.000000	0.03702	0.831000	0.47069	0.692000	0.25482	-0.578000	0.05959	0.472000	0.43445	TCT	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.408	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	43	0.00	0	T	NM_020868		116535382	116535382	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	0.005	A
DUSP10	11221	genome.wustl.edu	37	1	221913041	221913041	+	Silent	SNP	T	T	G			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:221913041T>G	ENST00000366899.3	-	2	284	c.46A>C	c.(46-48)Agg>Cgg	p.R16R	DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	16					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CGGACGGGCCTAGATAGTGCC	0.517																																						dbGAP											0													104.0	100.0	101.0					1																	221913041		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.46A>C	1.37:g.221913041T>G			D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.R16	ENST00000366899.3	37	c.46	CCDS1528.1	1																																																																																			DUSP10	-	NULL	ENSG00000143507		0.517	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	35	0.00	0	T	NM_007207		221913041	221913041	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	1.000	G
DYRK4	8798	genome.wustl.edu	37	12	4702196	4702196	+	Silent	SNP	G	G	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr12:4702196G>T	ENST00000540757.2	+	4	307	c.147G>T	c.(145-147)ctG>ctT	p.L49L	DYRK4_ENST00000010132.5_Silent_p.L49L|DYRK4_ENST00000543431.1_Silent_p.L49L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	49						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGAACCAGCTGTCTCCATATG	0.493																																						dbGAP											0													80.0	86.0	84.0					12																	4702196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.147G>T	12.37:g.4702196G>T			A8K8F7|Q8NEF2|Q92631	Silent	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.L49	ENST00000540757.2	37	c.147	CCDS8530.1	12																																																																																			DYRK4	-	NULL	ENSG00000010219		0.493	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	27	0.00	0	G			4702196	4702196	+1	no_errors	ENST00000010132	ensembl	human	known	69_37n	silent	33	29.79	14	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	rs121913471		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr17:37881000G>T	ENST00000269571.5	+	20	2488	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L	ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91.0	90.0	90.0					17																	37881000		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>T	17.37:g.37881000G>T	ENSP00000269571:p.Val777Leu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186331	0.57909	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	67	0.00	0	G			37881000	37881000	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	26	57.38	35	SNP	1.000	T
G3BP2	9908	genome.wustl.edu	37	4	76582746	76582746	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr4:76582746G>A	ENST00000359707.4	-	4	1131	c.346C>T	c.(346-348)Cct>Tct	p.P116S	G3BP2_ENST00000502654.1_5'UTR|G3BP2_ENST00000395719.3_Missense_Mutation_p.P116S|G3BP2_ENST00000357854.3_Missense_Mutation_p.P116S	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	116	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTACTTCAGGAGCCAGAACA	0.388																																						dbGAP											0													120.0	121.0	120.0					4																	76582746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.346C>T	4.37:g.76582746G>A	ENSP00000352738:p.Pro116Ser		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.P116S	ENST00000359707.4	37	c.346	CCDS3571.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.306851	0.95629	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660;ENST00000507745;ENST00000509100	T;T;T	0.79749	-1.27;-1.27;-1.3	5.87	5.87	0.94306	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.105878	0.64402	D	0.000004	D	0.91968	0.7456	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	D	0.92256	0.5813	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	116;116	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	S	116	ENSP00000379069:P116S;ENSP00000352738:P116S;ENSP00000350518:P116S	ENSP00000350518:P116S	P	-	1	0	G3BP2	76801770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCT	G3BP2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000138757		0.388	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2	20	0.00	0	G	NM_012297		76582746	76582746	-1	no_errors	ENST00000359707	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	1.000	A
H6PD	9563	genome.wustl.edu	37	1	9323595	9323595	+	Missense_Mutation	SNP	G	G	T	rs149463138	byFrequency	TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:9323595G>T	ENST00000377403.2	+	5	1345	c.1043G>T	c.(1042-1044)cGc>cTc	p.R348L	H6PD_ENST00000602477.1_Missense_Mutation_p.R359L	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	348	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GACAACCTTCGCTGGGAGGGC	0.597																																						dbGAP											0													110.0	114.0	112.0					1																	9323595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1043G>T	1.37:g.9323595G>T	ENSP00000366620:p.Arg348Leu		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.R348L	ENST00000377403.2	37	c.1043	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516259	0.44763	.	.	ENSG00000049239	ENST00000377403	D	0.99909	-7.85	5.39	4.46	0.54185	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.115379	0.64402	D	0.000008	D	0.99896	0.9950	H	0.97516	4.02	0.58432	D	0.999999	P	0.42123	0.771	P	0.46339	0.513	D	0.95404	0.8492	10	0.87932	D	0	-38.4846	15.0804	0.72110	0.0:0.1425:0.8575:0.0	.	348	O95479	G6PE_HUMAN	L	348	ENSP00000366620:R348L	ENSP00000366620:R348L	R	+	2	0	H6PD	9246182	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.670000	0.68088	1.245000	0.43885	0.555000	0.69702	CGC	H6PD	-	pfam_G6P_DH_C,prints_G6P_DH	ENSG00000049239		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	63	0.00	0	G	NM_004285		9323595	9323595	+1	no_errors	ENST00000377403	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	1.000	T
HECTD4	283450	genome.wustl.edu	37	12	112703012	112703012	+	Silent	SNP	T	T	C			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr12:112703012T>C	ENST00000430131.2	-	15	2435	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	HECTD4_ENST00000377560.5_Silent_p.K680K|HECTD4_ENST00000550722.1_Silent_p.K718K|RN7SKP71_ENST00000364558.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	430					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GAAAATCATCTTTAGAGACAG	0.308																																						dbGAP											0													99.0	106.0	104.0					12																	112703012		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1290A>G	12.37:g.112703012T>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.K680	ENST00000430131.2	37	c.2040		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.308	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		48	0.00	0	T	NM_173813		112703012	112703012	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	1.000	C
HNRNPC	3183	genome.wustl.edu	37	14	21679501	21679501	+	Intron	SNP	G	G	C			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr14:21679501G>C	ENST00000320084.7	-	8	1077				HNRNPC_ENST00000554455.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000420743.2_Intron|HNRNPC_ENST00000555309.1_Intron|HNRNPC_ENST00000557201.1_Intron|HNRNPC_ENST00000553753.1_Missense_Mutation_p.L288V|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000336053.6_Missense_Mutation_p.L288V|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555914.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)						3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TGGAGTTAGAGGCACTCCATG	0.502																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													136.0	148.0	144.0					14																	21679501		2150	4266	6416	-	-	-	SO:0001627	intron_variant	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.838-36C>G	14.37:g.21679501G>C			D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.L288V	ENST00000320084.7	37	c.862	CCDS41915.1	14	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610381	0.28712	.	.	ENSG00000092199	ENST00000336053;ENST00000553753;ENST00000216296	T;T	0.10382	2.88;2.88	5.86	2.55	0.30701	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09357	-1.0678	8	0.87932	D	0	.	7.9414	0.29961	0.1684:0.1388:0.6928:0.0	.	196;288	B4DQQ2;B4DY08	.;.	V	288;288;196	ENSP00000338095:L288V;ENSP00000450548:L288V	ENSP00000216296:L196V	L	-	1	0	HNRNPC	20749341	0.988000	0.35896	1.000000	0.80357	0.817000	0.46193	0.022000	0.13511	0.794000	0.33899	0.655000	0.94253	CTC	HNRNPC	-	pirsf_hnRNP_C_Raly	ENSG00000092199		0.502	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	91	0.00	0	G			21679501	21679501	-1	no_errors	ENST00000336053	ensembl	human	putative	69_37n	missense	70	24.73	23	SNP	0.998	C
HNRNPC	3183	genome.wustl.edu	37	14	21681136	21681136	+	Missense_Mutation	SNP	G	G	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr14:21681136G>T	ENST00000320084.7	-	5	784	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	HNRNPC_ENST00000554455.1_Missense_Mutation_p.S182Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S102Y|HNRNPC_ENST00000420743.2_Missense_Mutation_p.S182Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S182Y|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S182Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S169Y|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S182Y|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S169Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S169Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S169Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S182Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S169Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S169Y|HNRNPC_ENST00000430246.2_Missense_Mutation_p.S169Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S169Y	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	182	Asp/Glu-rich (acidic).				3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGACTTGGAAGATCCCCGCTG	0.428																																					NSCLC(108;607 2244 12726 38757)	dbGAP											0													104.0	111.0	109.0					14																	21681136		2190	4290	6480	-	-	-	SO:0001583	missense	0				CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.545C>A	14.37:g.21681136G>T	ENSP00000319690:p.Ser182Tyr		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.S182Y	ENST00000320084.7	37	c.545	CCDS41915.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.362505|3.362505	0.61403|0.61403	.|.	.|.	ENSG00000092199|ENSG00000092199	ENST00000452166|ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383;ENST00000555215	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.19938	.|2.62;2.77;2.64;2.64;2.64;2.77;2.64;2.62;2.63;2.76;2.11;2.64;2.77;2.64;2.64;2.77;2.39;2.17;2.64;2.23	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.564178	.|0.14718	.|U	.|0.302493	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.59436|0.59436	1.845|1.845	0.27028|0.27028	N|N	0.964318|0.964318	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.997;1.0;0.998;0.999;0.998	.|D;P;D;D;D;D	.|0.76575	.|0.988;0.878;0.988;0.943;0.949;0.916	T|T	0.16719|0.16719	-1.0393|-1.0393	6|10	0.56958|0.87932	D|D	0.05|0	.|.	12.3135|12.3135	0.54942|0.54942	0.0:0.1714:0.8286:0.0|0.0:0.1714:0.8286:0.0	.|.	.|77;169;102;169;182;169	.|B4DQQ2;B4DY08;P07910-3;G3V4C1;P07910;P07910-2	.|.;.;.;.;HNRPC_HUMAN;.	I|Y	142|169;182;169;169;182;182;169;169;169;182;102;182;182;169;77;169;182;90;182;66;169;182	.|ENSP00000338095:S169Y;ENSP00000319690:S182Y;ENSP00000404559:S169Y;ENSP00000450725:S169Y;ENSP00000451187:S182Y;ENSP00000451291:S182Y;ENSP00000442816:S169Y;ENSP00000450548:S169Y;ENSP00000451708:S169Y;ENSP00000450790:S182Y;ENSP00000451652:S102Y;ENSP00000452214:S182Y;ENSP00000452276:S182Y;ENSP00000450544:S169Y;ENSP00000451176:S169Y;ENSP00000404848:S182Y;ENSP00000450601:S90Y;ENSP00000452545:S66Y;ENSP00000452021:S169Y;ENSP00000452213:S182Y	ENSP00000391047:L142I|ENSP00000216296:S77Y	L|S	-|-	1|2	0|0	HNRNPC|HNRNPC	20750976|20750976	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.273000|5.273000	0.65564|0.65564	2.226000|2.226000	0.72624|0.72624	0.563000|0.563000	0.77884|0.77884	CTT|TCT	HNRNPC	-	superfamily_Regulat_G_prot_signal_superfam,pirsf_hnRNP_C_Raly	ENSG00000092199		0.428	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	HNRNPC	HGNC	protein_coding	OTTHUMT00000410235.1	43	0.00	0	G			21681136	21681136	-1	no_errors	ENST00000320084	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44169764	44169764	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:44169764A>G	ENST00000372396.3	+	21	3169	c.3035A>G	c.(3034-3036)aAg>aGg	p.K1012R	KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1012					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAGCTTCCCAAGAGAGTCAAA	0.468																																						dbGAP											0													222.0	215.0	218.0					1																	44169764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3035A>G	1.37:g.44169764A>G	ENSP00000361473:p.Lys1012Arg		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.K1012R	ENST00000372396.3	37	c.3035	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024147	0.75390	.	.	ENSG00000066135	ENST00000372396	T	0.79554	-1.28	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.71581	2.175	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.89190	0.3550	10	0.54805	T	0.06	-33.6542	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1012	O75164	KDM4A_HUMAN	R	1012	ENSP00000361473:K1012R	ENSP00000361473:K1012R	K	+	2	0	KDM4A	43942351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.281000	0.95811	2.333000	0.79357	0.533000	0.62120	AAG	KDM4A	-	NULL	ENSG00000066135		0.468	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	97	0.00	0	A	NM_014663		44169764	44169764	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	83	13.54	13	SNP	1.000	G
MAN2A2	4122	genome.wustl.edu	37	15	91461569	91461569	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr15:91461569C>T	ENST00000559717.1	+	21	3599	c.3140C>T	c.(3139-3141)tCa>tTa	p.S1047L	AC068831.15_ENST00000560522.1_RNA|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.S555L|MAN2A2_ENST00000430376.2_Missense_Mutation_p.S237L|MAN2A2_ENST00000360468.3_Missense_Mutation_p.S1047L			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1047					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGGCTTCCTCACTGCCCTGT	0.607																																						dbGAP											0													151.0	119.0	130.0					15																	91461569		2198	4298	6496	-	-	-	SO:0001583	missense	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.3140C>T	15.37:g.91461569C>T	ENSP00000452948:p.Ser1047Leu		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S1047L	ENST00000559717.1	37	c.3140	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609316	0.46527	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	T;T;T	0.79352	-1.26;-1.26;-1.26	5.58	5.58	0.84498	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.091440	0.06841	N	0.795734	T	0.79287	0.4420	M	0.63428	1.95	0.09310	N	1	B;B;B	0.19445	0.036;0.003;0.002	B;B;B	0.27262	0.078;0.03;0.03	T	0.64470	-0.6400	10	0.37606	T	0.19	0.4309	14.2109	0.65764	0.0:0.9283:0.0:0.0717	.	555;675;1047	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	L	1047;555;237	ENSP00000353655:S1047L;ENSP00000388221:S555L;ENSP00000394372:S237L	ENSP00000353655:S1047L	S	+	2	0	MAN2A2	89262573	0.010000	0.17322	0.007000	0.13788	0.836000	0.47400	2.420000	0.44679	2.804000	0.96469	0.555000	0.69702	TCA	MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000196547		0.607	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	53	0.00	0	C	NM_006122		91461569	91461569	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	0.016	T
MCM6	4175	genome.wustl.edu	37	2	136622668	136622669	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr2:136622668_136622669delCA	ENST00000264156.2	-	7	1052_1053	c.992_993delTG	c.(991-993)gtgfs	p.V331fs	MCM6_ENST00000492091.1_5'Flank	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	331					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCCATTCTTTCACAGTCATTTG	0.391																																					Ovarian(196;141 2104 8848 24991 25939)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.992_993delTG	2.37:g.136622670_136622671delCA	ENSP00000264156:p.Val331fs		B2R6H2|Q13504|Q99859	Frame_Shift_Del	DEL	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase	p.V331fs	ENST00000264156.2	37	c.993_992	CCDS2179.1	2																																																																																			MCM6	-	smart_MCM_DNA-dep_ATPase	ENSG00000076003		0.391	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	74	0.00	0	CA	NM_005915		136622668	136622669	-1	no_errors	ENST00000264156	ensembl	human	known	69_37n	frame_shift_del	63	18.75	15	DEL	1.000:1.000	-
MMP15	4324	genome.wustl.edu	37	16	58074508	58074508	+	Missense_Mutation	SNP	C	C	A	rs182288967	byFrequency	TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr16:58074508C>A	ENST00000219271.3	+	5	1601	c.816C>A	c.(814-816)aaC>aaA	p.N272K		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	272					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	ACTCCAGCAACCCCAATGCCA	0.602																																						dbGAP											0													101.0	83.0	89.0					16																	58074508		2198	4300	6498	-	-	-	SO:0001583	missense	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.816C>A	16.37:g.58074508C>A	ENSP00000219271:p.Asn272Lys		A0A2U6|Q14111	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.N272K	ENST00000219271.3	37	c.816	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866144	0.91511	.	.	ENSG00000102996	ENST00000219271	T	0.22945	1.93	5.17	4.19	0.49359	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.091632	0.64402	D	0.000001	T	0.41511	0.1162	L	0.58302	1.8	0.80722	D	1	D	0.56968	0.978	P	0.60236	0.871	T	0.24870	-1.0148	10	0.54805	T	0.06	.	11.9236	0.52806	0.0:0.912:0.0:0.088	.	272	P51511	MMP15_HUMAN	K	272	ENSP00000219271:N272K	ENSP00000219271:N272K	N	+	3	2	MMP15	56632009	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.761000	0.26489	1.142000	0.42291	0.563000	0.77884	AAC	MMP15	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	ENSG00000102996		0.602	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1	67	0.00	0	C	NM_002428		58074508	58074508	+1	no_errors	ENST00000219271	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	1.000	A
MON1B	22879	genome.wustl.edu	37	16	77232125	77232125	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr16:77232125C>T	ENST00000248248.3	+	6	1914	c.1564C>T	c.(1564-1566)Cgt>Tgt	p.R522C	MON1B_ENST00000545553.1_Missense_Mutation_p.R376C|SYCE1L_ENST00000378644.4_5'Flank|MON1B_ENST00000439557.2_Missense_Mutation_p.R413C	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	522										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTCTTCATTCGTTACCCACC	0.552																																						dbGAP											0													179.0	170.0	173.0					16																	77232125		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1564C>T	16.37:g.77232125C>T	ENSP00000248248:p.Arg522Cys		B4DDZ0|O94949	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.R522C	ENST00000248248.3	37	c.1564	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076217	0.55646	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.93	4.93	0.64822	.	0.053474	0.64402	D	0.000001	T	0.73281	0.3567	L	0.50919	1.6	0.80722	D	1	D;B;B;P	0.89917	1.0;0.391;0.391;0.783	D;B;B;B	0.70935	0.971;0.119;0.119;0.27	T	0.71262	-0.4645	9	0.38643	T	0.18	.	16.4677	0.84087	0.0:1.0:0.0:0.0	.	376;413;402;522	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	C	522;413;376	.	ENSP00000248248:R522C	R	+	1	0	MON1B	75789626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.791000	0.55469	2.656000	0.90262	0.655000	0.94253	CGT	MON1B	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	ENSG00000103111		0.552	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2	52	0.00	0	C	NM_014940		77232125	77232125	+1	no_errors	ENST00000248248	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	1.000	T
MPPED2	744	genome.wustl.edu	37	11	30557579	30557579	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr11:30557579C>T	ENST00000358117.5	-	2	394	c.272G>A	c.(271-273)gGa>gAa	p.G91E	MPPED2_ENST00000448418.2_Missense_Mutation_p.G91E	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	91					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGAGGGCAGTCCCAGCTCGGT	0.512																																						dbGAP											0													101.0	91.0	95.0					11																	30557579		2202	4299	6501	-	-	-	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.272G>A	11.37:g.30557579C>T	ENSP00000350833:p.Gly91Glu		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.G91E	ENST00000358117.5	37	c.272	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922910	0.73213	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.88818	-2.43;-2.43	5.87	4.96	0.65561	Metallophosphoesterase domain (1);	0.100321	0.64402	D	0.000002	D	0.95490	0.8535	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.96476	0.9352	10	0.87932	D	0	-6.4152	16.7771	0.85553	0.13:0.87:0.0:0.0	.	91;91	Q15777;E9PB10	MPPD2_HUMAN;.	E	91	ENSP00000388258:G91E;ENSP00000350833:G91E	ENSP00000350833:G91E	G	-	2	0	MPPED2	30514155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.610000	0.50200	0.655000	0.94253	GGA	MPPED2	-	pfam_Metallo_PEstase_dom	ENSG00000066382		0.512	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	55	0.00	0	C	NM_001584		30557579	30557579	-1	no_errors	ENST00000358117	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152421652	152421652	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr2:152421652T>C	ENST00000172853.10	-	89	13421	c.13274A>G	c.(13273-13275)aAa>aGa	p.K4425R	NEB_ENST00000604864.1_Missense_Mutation_p.K6126R|NEB_ENST00000409198.1_Missense_Mutation_p.K4425R|NEB_ENST00000397345.3_Missense_Mutation_p.K6126R|NEB_ENST00000427231.2_Missense_Mutation_p.K6126R|NEB_ENST00000603639.1_Missense_Mutation_p.K6126R			P20929	NEBU_HUMAN	nebulin	4425					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATGTTTCTTTATATTTTAC	0.294																																						dbGAP											0													99.0	88.0	91.0					2																	152421652		1794	4072	5866	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13274A>G	2.37:g.152421652T>C	ENSP00000172853:p.Lys4425Arg		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.K6126R	ENST00000172853.10	37	c.18377		2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958605	0.74016	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	L	0.48260	1.515	0.80722	D	1	P;P	0.43607	0.812;0.623	B;P	0.49953	0.434;0.627	T	0.65199	-0.6226	10	0.40728	T	0.16	.	15.8088	0.78538	0.0:0.0:0.0:1.0	.	4425;856	P20929;Q14215	NEBU_HUMAN;.	R	4425;6126;6126;474;856;4425	ENSP00000386259:K4425R;ENSP00000380505:K6126R;ENSP00000416578:K6126R;ENSP00000410961:K856R;ENSP00000172853:K4425R	ENSP00000172853:K4425R	K	-	2	0	NEB	152129898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.151000	0.71806	2.330000	0.79161	0.528000	0.53228	AAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.294	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		46	0.00	0	T	NM_004543		152421652	152421652	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	1.000	C
NR2F1	7025	genome.wustl.edu	37	5	92929603	92929603	+	3'UTR	SNP	G	G	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr5:92929603G>A	ENST00000327111.3	+	0	3014				NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1						cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGACCCACCTGGGCCAAGGAC	0.667																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.*55G>A	5.37:g.92929603G>A				RNA	SNP	-	NULL	ENST00000327111.3	37	NULL	CCDS4068.1	5																																																																																			NR2F1	-	-	ENSG00000175745		0.667	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F1	HGNC	protein_coding	OTTHUMT00000239293.2	39	0.00	0	G	NM_005654		92929603	92929603	+1	no_errors	ENST00000506162	ensembl	human	putative	69_37n	rna	24	31.43	11	SNP	0.020	A
PALB2	79728	genome.wustl.edu	37	16	23647265	23647265	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr16:23647265C>T	ENST00000261584.4	-	4	754	c.602G>A	c.(601-603)aGt>aAt	p.S201N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	201	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGATTTAAGACTTAAAAGGTG	0.373			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													168.0	176.0	173.0					16																	23647265		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.602G>A	16.37:g.23647265C>T	ENSP00000261584:p.Ser201Asn		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.S201N	ENST00000261584.4	37	c.602	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795357	0.16327	.	.	ENSG00000083093	ENST00000261584	T	0.15487	2.42	5.42	3.47	0.39725	.	0.824764	0.11272	N	0.581345	T	0.17109	0.0411	L	0.55481	1.735	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.14896	-1.0456	10	0.41790	T	0.15	-2.8111	7.5387	0.27725	0.0:0.8121:0.0:0.1879	.	201	Q86YC2	PALB2_HUMAN	N	201	ENSP00000261584:S201N	ENSP00000261584:S201N	S	-	2	0	PALB2	23554766	0.069000	0.21087	0.007000	0.13788	0.010000	0.07245	0.864000	0.27926	1.290000	0.44636	-0.150000	0.13652	AGT	PALB2	-	NULL	ENSG00000083093		0.373	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	46	0.00	0	C	NM_024675		23647265	23647265	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	0.004	T
PCDHA9	9752	genome.wustl.edu	37	5	140229249	140229249	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr5:140229249C>T	ENST00000532602.1	+	1	2202	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.T390M|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	390	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)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCACGTC	0.562																																					Melanoma(55;1800 1972 14909)	dbGAP											0													112.0	101.0	105.0					5																	140229249		2196	4274	6470	-	-	-	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1169C>T	5.37:g.140229249C>T	ENSP00000436042:p.Thr390Met		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T390M	ENST00000532602.1	37	c.1169	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837550	0.32513	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53206	0.63;0.63	3.6	0.613	0.17597	Cadherin (4);Cadherin-like (1);	0.730603	0.10108	U	0.715048	T	0.25121	0.0610	L	0.29908	0.895	0.09310	N	1	P;B	0.44260	0.83;0.421	B;B	0.33254	0.16;0.034	T	0.12218	-1.0556	10	0.33141	T	0.24	.	2.2108	0.03947	0.2563:0.4568:0.1254:0.1615	.	390;390	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	M	390	ENSP00000436042:T390M;ENSP00000367362:T390M	ENSP00000367362:T390M	T	+	2	0	PCDHA9	140209433	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-2.560000	0.00921	-0.019000	0.14055	0.313000	0.20887	ACG	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.562	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	120	0.00	0	C	NM_031857		140229249	140229249	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	missense	69	34.29	36	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	26	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	A
PLEKHH1	57475	genome.wustl.edu	37	14	68038563	68038565	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr14:68038563_68038565delCCT	ENST00000329153.5	+	10	1661_1663	c.1529_1531delCCT	c.(1528-1533)ccctcc>ccc	p.S512del		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	512						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCTCGGTCCCCTCCTCTGAGTC	0.601																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1529_1531delCCT	14.37:g.68038566_68038568delCCT	ENSP00000330278:p.Ser512del		A6H8X6|Q6PJL4|Q6ZWC7	In_Frame_Del	DEL	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.S512in_frame_del	ENST00000329153.5	37	c.1529_1531	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL	ENSG00000054690		0.601	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	40	0.00	0	CCT	XM_031054		68038563	68038565	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	in_frame_del	28	17.65	6	DEL	0.977:0.983:0.992	-
PRIM2	5558	genome.wustl.edu	37	6	57512788	57512789	+	3'UTR	INS	-	-	TA	rs376103961|rs386701662|rs79832250		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr6:57512788_57512789insTA	ENST00000389488.2	+	0	1703_1704				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tgcactctgttgtgtaattgtg	0.436																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1701->TA	6.37:g.57512788_57512789insTA			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	INS	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.436	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	11	0.00	0	-	NM_000947		57512788	57512789	+1	no_errors	ENST00000389488	ensembl	human	known	69_37n	rna	11	38.89	7	INS	0.034:0.053	TA
RYR1	6261	genome.wustl.edu	37	19	39018355	39018355	+	Silent	SNP	C	C	T	rs565882584		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr19:39018355C>T	ENST00000359596.3	+	73	10755	c.10755C>T	c.(10753-10755)gaC>gaT	p.D3585D	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Silent_p.D3585D|RYR1_ENST00000355481.4_Silent_p.D3580D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3585					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCGAGGAGGACGCCGATGACC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		12602	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													46.0	47.0	47.0					19																	39018355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10755C>T	19.37:g.39018355C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D3585	ENST00000359596.3	37	c.10755	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	79	0.00	0	C			39018355	39018355	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	46	24.19	15	SNP	0.700	T
SH2D4B	387694	genome.wustl.edu	37	10	82394052	82394052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr10:82394052C>T	ENST00000470604.2	+	7	994	c.994C>T	c.(994-996)Cga>Tga	p.R332*	SH2D4B_ENST00000372150.3_Intron|SH2D4B_ENST00000339284.2_Intron|SH2D4B_ENST00000313455.4_Intron			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	332	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AATTATTAGCCGAGAAGATGC	0.507																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.994C>T	10.37:g.82394052C>T	ENSP00000417953:p.Arg332*		Q5SQS5|Q6ZVW9|Q6ZVZ3	Nonsense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R332*	ENST00000470604.2	37	c.994		10	.	.	.	.	.	.	.	.	.	.	C	37	6.423443	0.97555	.	.	ENSG00000178217	ENST00000470604	.	.	.	5.6	5.6	0.85130	.	0.099980	0.44285	D	0.000463	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.226	17.1168	0.86691	0.0:1.0:0.0:0.0	.	.	.	.	X	332	.	ENSP00000417953:R332X	R	+	1	2	SH2D4B	82384032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.765000	0.55272	2.628000	0.89032	0.655000	0.94253	CGA	SH2D4B	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000178217		0.507	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		31	0.00	0	C	XM_351984		82394052	82394052	+1	no_errors	ENST00000470604	ensembl	human	known	69_37n	nonsense	35	27.08	13	SNP	1.000	T
SKI	6497	genome.wustl.edu	37	1	2160849	2160849	+	Missense_Mutation	SNP	A	A	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:2160849A>T	ENST00000378536.4	+	1	716	c.644A>T	c.(643-645)gAg>gTg	p.E215V		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	215					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GAGCTCAGCGAGCGCAGCGTC	0.711																																					Ovarian(177;144 1678 13697 20086 27838 40755)	dbGAP											0													10.0	12.0	11.0					1																	2160849		2158	4237	6395	-	-	-	SO:0001583	missense	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.644A>T	1.37:g.2160849A>T	ENSP00000367797:p.Glu215Val		Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.E215V	ENST00000378536.4	37	c.644	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.884845	0.72410	.	.	ENSG00000157933	ENST00000378536	D	0.96491	-4.03	4.3	4.3	0.51218	.	0.118882	0.56097	D	0.000030	D	0.96602	0.8891	M	0.63428	1.95	0.58432	D	0.999997	D	0.71674	0.998	P	0.56960	0.81	D	0.96323	0.9238	10	0.54805	T	0.06	-21.7881	12.6048	0.56516	1.0:0.0:0.0:0.0	.	215	P12755	SKI_HUMAN	V	215	ENSP00000367797:E215V	ENSP00000367797:E215V	E	+	2	0	SKI	2150709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.898000	0.69838	1.573000	0.49748	0.323000	0.21402	GAG	SKI	-	NULL	ENSG00000157933		0.711	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	31	0.00	0	A	NM_003036		2160849	2160849	+1	no_errors	ENST00000378536	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	T
SLC25A1	6576	genome.wustl.edu	37	22	19163984	19163984	+	Silent	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr22:19163984C>T	ENST00000215882.5	-	8	927	c.771G>A	c.(769-771)cgG>cgA	p.R257R	SLC25A1_ENST00000451283.1_Silent_p.R154R|SLC25A1_ENST00000461267.1_5'Flank	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	257					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		CCCACGTGTTCCGGTATTTGT	0.657																																						dbGAP											0													90.0	86.0	88.0					22																	19163984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.771G>A	22.37:g.19163984C>T			A8K8E8|Q9BSK6	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R257	ENST00000215882.5	37	c.771	CCDS13758.1	22																																																																																			SLC25A1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000100075		0.657	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A1	HGNC	protein_coding	OTTHUMT00000316441.1	30	0.00	0	C	NM_005984		19163984	19163984	-1	no_errors	ENST00000215882	ensembl	human	known	69_37n	silent	22	33.33	11	SNP	1.000	T
SULT1A2	6799	genome.wustl.edu	37	16	28603420	28603421	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr16:28603420_28603421delTC	ENST00000395630.1	-	8	1166_1167	c.816_817delGA	c.(814-819)cagaatfs	p.N273fs	SULT1A2_ENST00000335715.4_Frame_Shift_Del_p.N273fs|SULT1A2_ENST00000533150.1_Frame_Shift_Del_p.N240fs	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	273					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AAGCGCTCATTCTGCGCCACGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.816_817delGA	16.37:g.28603420_28603421delTC	ENSP00000378992:p.Asn273fs		A9QY25|P78393|Q14CJ7	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom	p.N273fs	ENST00000395630.1	37	c.817_816	CCDS10636.1	16																																																																																			SULT1A2	-	pfam_Sulfotransferase_dom	ENSG00000197165		0.629	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2	88	0.00	0	TC	NM_001054		28603420	28603421	-1	no_errors	ENST00000335715	ensembl	human	known	69_37n	frame_shift_del	63	12.50	9	DEL	1.000:1.000	-
TCTN1	79600	genome.wustl.edu	37	12	111082851	111082851	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr12:111082851G>A	ENST00000551590.1	+	12	1567	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M	TCTN1_ENST00000377654.3_Missense_Mutation_p.R217H|TCTN1_ENST00000397655.3_Missense_Mutation_p.V457M|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.V471M			Q2MV58	TECT1_HUMAN	tectonic family member 1	471					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CCCAGATTACGTGGCCCCTTT	0.547																																						dbGAP											0													67.0	67.0	67.0					12																	111082851		1890	4112	6002	-	-	-	SO:0001583	missense	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1411G>A	12.37:g.111082851G>A	ENSP00000448735:p.Val471Met		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.V471M	ENST00000551590.1	37	c.1411	CCDS41835.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919703|2.919703	0.52653|0.52653	.|.	.|.	ENSG00000204852|ENSG00000204852	ENST00000377654|ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038	T|D;D;D	0.78707|0.87103	-1.2|-2.17;-2.21;-2.18	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|1.223500	.|0.05851	.|N	.|0.621186	D|D	0.95037|0.95037	0.8393|0.8393	M|M	0.79693|0.79693	2.465|2.465	0.36256|0.36256	D|D	0.85423|0.85423	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.74023	.|0.971;0.98;0.982	D|D	0.90058|0.90058	0.4154|0.4154	7|10	0.87932|0.87932	D|D	0|0	-17.7359|-17.7359	20.1253|20.1253	0.97977|0.97977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|471;457;471	.|Q2MV58;Q2MV58-3;Q2MV58-2	.|TECT1_HUMAN;.;.	H|M	217|362;471;457;293;471;415;32;75	ENSP00000366882:R217H|ENSP00000448735:V471M;ENSP00000380775:V457M;ENSP00000380779:V471M	ENSP00000366882:R217H|ENSP00000380771:V362M	R|V	+|+	2|1	0|0	TCTN1|TCTN1	109567234|109567234	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.224000|0.224000	0.24922|0.24922	8.758000|8.758000	0.91663|0.91663	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGT|GTG	TCTN1	-	NULL	ENSG00000204852		0.547	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	58	0.00	0	G	NM_024549		111082851	111082851	+1	no_errors	ENST00000397659	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	C	rs397516437		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr17:7577557A>C	ENST00000269305.4	-	7	913	c.724T>G	c.(724-726)Tgc>Ggc	p.C242G	TP53_ENST00000413465.2_Missense_Mutation_p.C242G|TP53_ENST00000445888.2_Missense_Mutation_p.C242G|TP53_ENST00000455263.2_Missense_Mutation_p.C242G|TP53_ENST00000359597.4_Missense_Mutation_p.C242G|TP53_ENST00000420246.2_Missense_Mutation_p.C242G|TP53_ENST00000574684.1_5'Flank	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CCGCCCATGCAGGAACTGTTA	0.577		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"""	55	Substitution - Missense(24)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	breast(8)|large_intestine(7)|biliary_tract(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|pancreas(3)|prostate(3)|stomach(2)|oesophagus(2)|lung(2)|urinary_tract(1)											138.0	106.0	117.0					17																	7577557		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.724T>G	17.37:g.7577557A>C	ENSP00000269305:p.Cys242Gly		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.C242G	ENST00000269305.4	37	c.724	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229870	0.79688	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	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	0.99924	0.9965	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95737	0.8780	10	0.87932	D	0	-27.558	12.3101	0.54924	1.0:0.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	G	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242G;ENSP00000352610:C242G;ENSP00000269305:C242G;ENSP00000398846:C242G;ENSP00000391127:C242G;ENSP00000391478:C242G;ENSP00000425104:C110G;ENSP00000423862:C149G	ENSP00000269305:C242G	C	-	1	0	TP53	7518282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	77	0.00	0	A	NM_000546		7577557	7577557	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	C
TRDN	10345	genome.wustl.edu	37	6	123539855	123539855	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr6:123539855A>G	ENST00000398178.3	-	41	2102	c.2081T>C	c.(2080-2082)tTg>tCg	p.L694S	TRDN_ENST00000334268.4_Missense_Mutation_p.L686S	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	694					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTACCCATCCAAGTAGACACA	0.468																																						dbGAP											0													92.0	83.0	86.0					6																	123539855		1970	4155	6125	-	-	-	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2081T>C	6.37:g.123539855A>G	ENSP00000381240:p.Leu694Ser		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.L694S	ENST00000398178.3	37	c.2081	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444582	0.63178	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.36157	1.28;1.27	5.24	5.24	0.73138	.	0.000000	0.31821	N	0.007020	T	0.35189	0.0923	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.37686	-0.9695	10	0.87932	D	0	-0.2293	11.5311	0.50610	1.0:0.0:0.0:0.0	.	694	Q13061	TRDN_HUMAN	S	694;696;686	ENSP00000381240:L694S;ENSP00000333984:L686S	ENSP00000333984:L686S	L	-	2	0	TRDN	123581554	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.736000	0.62059	1.975000	0.57531	0.533000	0.62120	TTG	TRDN	-	NULL	ENSG00000186439		0.468	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		35	0.00	0	A			123539855	123539855	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	G
TRIM58	25893	genome.wustl.edu	37	1	248039236	248039236	+	Silent	SNP	G	G	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:248039236G>A	ENST00000366481.3	+	6	954	c.906G>A	c.(904-906)ccG>ccA	p.P302P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	302	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGCGCACCCGAGTCTGCTCT	0.562																																						dbGAP											0													68.0	66.0	67.0					1																	248039236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.906G>A	1.37:g.248039236G>A			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P302	ENST00000366481.3	37	c.906	CCDS1636.1	1																																																																																			TRIM58	-	superfamily_ConA-like_lec_gl,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	49	0.00	0	G	NM_015431		248039236	248039236	+1	no_errors	ENST00000366481	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.001	A
TTN	7273	genome.wustl.edu	37	2	179640347	179640347	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr2:179640347C>T	ENST00000591111.1	-	28	6468	c.6244G>A	c.(6244-6246)Gaa>Aaa	p.E2082K	TTN_ENST00000342175.6_Missense_Mutation_p.E2036K|TTN_ENST00000360870.5_Missense_Mutation_p.E2082K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2036K|TTN_ENST00000589042.1_Missense_Mutation_p.E2082K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2082K|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2036K			Q8WZ42	TITIN_HUMAN	titin	12771	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E2036K(3)|p.E2082K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTCTTTCGAAGATTTTT	0.458																																						dbGAP											5	Substitution - Missense(5)	large_intestine(5)											85.0	87.0	86.0					2																	179640347		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6244G>A	2.37:g.179640347C>T	ENSP00000465570:p.Glu2082Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2082K	ENST00000591111.1	37	c.6244		2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680146	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75503	0.3858	L	0.46819	1.47	0.39856	D	0.973311	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.78523	-0.2171	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2036;2036;2036;2082;2082	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2082;2036;2036;2036;2036;2082	ENSP00000343764:E2082K;ENSP00000434586:E2036K;ENSP00000340554:E2036K;ENSP00000352154:E2036K;ENSP00000354117:E2082K	ENSP00000340554:E2036K	E	-	1	0	TTN	179348592	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	15	0.00	0	C	NM_133378		179640347	179640347	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	1.000	T
UBE2Q1	55585	genome.wustl.edu	37	1	154524283	154524283	+	Silent	SNP	G	G	A	rs201248339		TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr1:154524283G>A	ENST00000292211.4	-	10	1117	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	346					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCCCCTCCGCCCAGAACAT	0.577																																						dbGAP											0													116.0	122.0	120.0					1																	154524283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1038C>T	1.37:g.154524283G>A			B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G346	ENST00000292211.4	37	c.1038	CCDS1069.1	1																																																																																			UBE2Q1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000160714		0.577	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	22	0.00	0	G	NM_017582		154524283	154524283	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	silent	29	25.64	10	SNP	0.544	A
XIRP1	165904	genome.wustl.edu	37	3	39228770	39228770	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr3:39228770C>T	ENST00000340369.3	-	2	2395	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G723S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	723					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGACAGAACCCGCGGGGATG	0.577																																						dbGAP											0													51.0	53.0	53.0					3																	39228770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2167G>A	3.37:g.39228770C>T	ENSP00000343140:p.Gly723Ser		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.G723S	ENST00000340369.3	37	c.2167	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.717153	0.96839	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.20200	2.09;2.14	4.63	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.97110	0.739;1.0	T	0.45571	-0.9252	10	0.87932	D	0	.	10.8116	0.46551	0.0:0.9057:0.0:0.0943	.	723;723	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	723	ENSP00000379550:G723S;ENSP00000343140:G723S	ENSP00000343140:G723S	G	-	1	0	XIRP1	39203774	1.000000	0.71417	0.425000	0.26659	0.780000	0.44128	7.249000	0.78278	1.100000	0.41517	0.563000	0.77884	GGT	XIRP1	-	NULL	ENSG00000168334		0.577	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	26	0.00	0	C	XM_093522		39228770	39228770	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	1.000	T
ZFP36L1	677	genome.wustl.edu	37	14	69259696	69259696	+	5'UTR	SNP	T	T	A			TCGA-OL-A5D6-01A-21D-A27P-09	TCGA-OL-A5D6-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d9db3047-65be-437a-907b-d2d56873fb56	ccc9d7d3-f529-4d1f-82a5-fba4076cc831	g.chr14:69259696T>A	ENST00000439696.2	-	0	261				ZFP36L1_ENST00000555997.1_5'Flank|ZFP36L1_ENST00000336440.3_5'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATCTGGTGTGTCGCGAAGGTC	0.652																																						dbGAP											0													79.0	76.0	77.0					14																	69259696		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.-41A>T	14.37:g.69259696T>A			Q13851	Missense_Mutation	SNP	pfam_Tis11B_N	p.D56V	ENST00000439696.2	37	c.167	CCDS9791.1	14	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264169	0.23136	.	.	ENSG00000185650	ENST00000553375	.	.	.	4.03	-0.143	0.13444	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.27020	-1.0086	4	.	.	.	.	4.6347	0.12518	0.0:0.1095:0.3849:0.5056	.	.	.	.	V	56	.	.	D	-	2	0	ZFP36L1	68329449	0.001000	0.12720	0.564000	0.28396	0.945000	0.59286	0.065000	0.14466	-0.194000	0.10399	0.459000	0.35465	GAC	ZFP36L1	-	NULL	ENSG00000185650		0.652	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	91	0.00	0	T			69259696	69259696	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000553375	ensembl	human	putative	69_37n	missense	68	23.60	21	SNP	0.004	A
