#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
ALOX12B	242	genome.wustl.edu	37	17	7989371	7989371	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr17:7989371C>T	ENST00000319144.4	-	2	575	c.315G>A	c.(313-315)atG>atA	p.M105I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	105	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGTAGCCATCCATCCACTGGT	0.612										Multiple Myeloma(8;0.094)																												dbGAP											0													109.0	95.0	100.0					17																	7989371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.315G>A	17.37:g.7989371C>T	ENSP00000315167:p.Met105Ile			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.M105I	ENST00000319144.4	37	c.315	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222261	0.06061	.	.	ENSG00000179477	ENST00000319144	T	0.72835	-0.69	4.63	0.193	0.15139	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.185008	0.64402	N	0.000015	T	0.30978	0.0782	N	0.01640	-0.785	0.27771	N	0.943497	B	0.02656	0.0	B	0.09377	0.004	T	0.37731	-0.9693	10	0.02654	T	1	-27.5192	5.48	0.16719	0.0:0.4913:0.2662:0.2425	.	105	O75342	LX12B_HUMAN	I	105	ENSP00000315167:M105I	ENSP00000315167:M105I	M	-	3	0	ALOX12B	7930096	0.474000	0.25886	1.000000	0.80357	0.997000	0.91878	-0.429000	0.06982	0.195000	0.20347	0.555000	0.69702	ATG	ALOX12B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000179477		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	66	0.00	0	C			7989371	7989371	-1	no_errors	ENST00000319144	ensembl	human	known	69_37n	missense	89	42.95	67	SNP	0.947	T
ALOX12B	242	genome.wustl.edu	37	17	7989371	7989371	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:7989371C>T	ENST00000319144.4	-	2	575	c.315G>A	c.(313-315)atG>atA	p.M105I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	105	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGTAGCCATCCATCCACTGGT	0.612										Multiple Myeloma(8;0.094)																												dbGAP											0													109.0	95.0	100.0					17																	7989371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.315G>A	17.37:g.7989371C>T	ENSP00000315167:p.Met105Ile			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.M105I	ENST00000319144.4	37	c.315	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222261	0.06061	.	.	ENSG00000179477	ENST00000319144	T	0.72835	-0.69	4.63	0.193	0.15139	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.185008	0.64402	N	0.000015	T	0.30978	0.0782	N	0.01640	-0.785	0.27771	N	0.943497	B	0.02656	0.0	B	0.09377	0.004	T	0.37731	-0.9693	10	0.02654	T	1	-27.5192	5.48	0.16719	0.0:0.4913:0.2662:0.2425	.	105	O75342	LX12B_HUMAN	I	105	ENSP00000315167:M105I	ENSP00000315167:M105I	M	-	3	0	ALOX12B	7930096	0.474000	0.25886	1.000000	0.80357	0.997000	0.91878	-0.429000	0.06982	0.195000	0.20347	0.555000	0.69702	ATG	ALOX12B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000179477		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	115	0.00	0	C			7989371	7989371	-1	no_errors	ENST00000319144	ensembl	human	known	69_37n	missense	89	42.95	67	SNP	0.947	T
AP5B1	91056	genome.wustl.edu	37	11	65546129	65546129	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:65546129G>A	ENST00000532090.2	-	2	2045	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	612					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GTAGAGGCGGGCGTGGTCACG	0.701																																						dbGAP											0													9.0	13.0	11.0					11																	65546129		2031	4150	6181	-	-	-	SO:0001583	missense	0			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1835C>T	11.37:g.65546129G>A	ENSP00000454303:p.Ala612Val		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.A612V	ENST00000532090.2	37	c.1835	CCDS58146.1	11																																																																																			AP5B1	-	NULL	ENSG00000254470		0.701	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	12	0.00	0	G	NM_138368		65546129	65546129	-1	no_errors	ENST00000532090	ensembl	human	novel	69_37n	missense	7	36.36	4	SNP	1.000	A
AMICA1	120425	genome.wustl.edu	37	11	118081378	118081378	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr11:118081378C>T	ENST00000356289.5	-	4	421	c.248G>A	c.(247-249)cGc>cAc	p.R83H	AMICA1_ENST00000292067.7_Missense_Mutation_p.R73H|AMICA1_ENST00000533261.1_Missense_Mutation_p.R83H|AMICA1_ENST00000526620.1_Missense_Mutation_p.R44H	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	83	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTCTGGAAGCGCCCAATAGG	0.493																																						dbGAP											0													133.0	122.0	126.0					11																	118081378		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.248G>A	11.37:g.118081378C>T	ENSP00000348635:p.Arg83His		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R83H	ENST00000356289.5	37	c.248	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293295	0.23564	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.14	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.37906	N	0.001890	T	0.49150	0.1540	L	0.42581	1.335	0.35000	D	0.75585	P;P;P;P;P	0.45634	0.53;0.863;0.53;0.53;0.474	B;B;B;B;B	0.36030	0.062;0.216;0.062;0.062;0.037	T	0.57997	-0.7714	10	0.30854	T	0.27	-13.2096	6.3736	0.21495	0.0:0.779:0.0:0.221	.	83;44;83;83;73	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	H	83;73;83;44;44;44;83	ENSP00000348635:R83H;ENSP00000292067:R73H;ENSP00000436117:R83H;ENSP00000431218:R44H;ENSP00000432769:R44H;ENSP00000431791:R83H	ENSP00000292067:R73H	R	-	2	0	AMICA1	117586588	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	0.973000	0.29422	1.401000	0.46761	0.655000	0.94253	CGC	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160593		0.493	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	138	0.00	0	C	NM_153206		118081378	118081378	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	missense	13	85.39	76	SNP	1.000	T
AMICA1	120425	genome.wustl.edu	37	11	118081378	118081378	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:118081378C>T	ENST00000356289.5	-	4	421	c.248G>A	c.(247-249)cGc>cAc	p.R83H	AMICA1_ENST00000292067.7_Missense_Mutation_p.R73H|AMICA1_ENST00000533261.1_Missense_Mutation_p.R83H|AMICA1_ENST00000526620.1_Missense_Mutation_p.R44H	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	83	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GTTCTGGAAGCGCCCAATAGG	0.493																																						dbGAP											0													133.0	122.0	126.0					11																	118081378		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.248G>A	11.37:g.118081378C>T	ENSP00000348635:p.Arg83His		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R83H	ENST00000356289.5	37	c.248	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293295	0.23564	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.14	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.123330	0.37906	N	0.001890	T	0.49150	0.1540	L	0.42581	1.335	0.35000	D	0.75585	P;P;P;P;P	0.45634	0.53;0.863;0.53;0.53;0.474	B;B;B;B;B	0.36030	0.062;0.216;0.062;0.062;0.037	T	0.57997	-0.7714	10	0.30854	T	0.27	-13.2096	6.3736	0.21495	0.0:0.779:0.0:0.221	.	83;44;83;83;73	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	H	83;73;83;44;44;44;83	ENSP00000348635:R83H;ENSP00000292067:R73H;ENSP00000436117:R83H;ENSP00000431218:R44H;ENSP00000432769:R44H;ENSP00000431791:R83H	ENSP00000292067:R73H	R	-	2	0	AMICA1	117586588	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	0.973000	0.29422	1.401000	0.46761	0.655000	0.94253	CGC	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000160593		0.493	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	180	0.00	0	C	NM_153206		118081378	118081378	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	missense	13	85.39	76	SNP	1.000	T
ATAD2B	54454	genome.wustl.edu	37	2	24118722	24118722	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr2:24118722C>A	ENST00000238789.5	-	2	678	c.335G>T	c.(334-336)cGa>cTa	p.R112L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	112						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTCCTCTCGCTGACCAGT	0.398																																						dbGAP											0													118.0	110.0	112.0					2																	24118722		1915	4141	6056	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.335G>T	2.37:g.24118722C>A	ENSP00000238789:p.Arg112Leu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R112L	ENST00000238789.5	37	c.335	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747432	0.89663	.	.	ENSG00000119778	ENST00000238789;ENST00000439915	D;T	0.94613	-3.47;0.26	5.03	5.03	0.67393	.	.	.	.	.	D	0.93390	0.7892	N	0.08118	0	0.48395	D	0.99964	D;D	0.89917	1.0;0.987	D;D	0.87578	0.998;0.931	D	0.92539	0.6040	9	0.23302	T	0.38	.	18.7496	0.91809	0.0:1.0:0.0:0.0	.	112;112	C9JG15;Q9ULI0	.;ATD2B_HUMAN	L	112	ENSP00000238789:R112L;ENSP00000403177:R112L	ENSP00000238789:R112L	R	-	2	0	ATAD2B	23972226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.247000	0.65416	2.513000	0.84729	0.655000	0.94253	CGA	ATAD2B	-	NULL	ENSG00000119778		0.398	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	308	0.32	1	C	NM_017552		24118722	24118722	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	208	39.53	136	SNP	1.000	A
ATF5	22809	genome.wustl.edu	37	19	50436338	50436338	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr19:50436338C>T	ENST00000423777.2	+	3	1215	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.R280C	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	280					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCAGAGGACCCGTAGCTGCTA	0.617																																					GBM(48;768 989 9196 9511 26329)	dbGAP											0													22.0	26.0	24.0					19																	50436338		2186	4288	6474	-	-	-	SO:0001583	missense	0			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.838C>T	19.37:g.50436338C>T	ENSP00000396954:p.Arg280Cys		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.R280C	ENST00000423777.2	37	c.838	CCDS12789.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096362	0.76870	.	.	ENSG00000169136	ENST00000423777	T	0.29397	1.57	4.54	0.636	0.17729	.	0.161017	0.36268	N	0.002684	T	0.33990	0.0882	N	0.22421	0.69	0.18873	N	0.999986	D	0.89917	1.0	D	0.72075	0.976	T	0.08106	-1.0738	10	0.87932	D	0	-5.0095	7.6691	0.28449	0.2981:0.6097:0.0:0.0922	.	280	Q9Y2D1	ATF5_HUMAN	C	280	ENSP00000396954:R280C	ENSP00000396954:R280C	R	+	1	0	ATF5	55128150	0.927000	0.31430	0.004000	0.12327	0.777000	0.43975	2.686000	0.46968	0.358000	0.24211	0.448000	0.29417	CGT	ATF5	-	NULL	ENSG00000169136		0.617	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF5	HGNC	protein_coding	OTTHUMT00000464915.2	13	0.00	0	C			50436338	50436338	+1	no_errors	ENST00000423777	ensembl	human	known	69_37n	missense	15	59.46	22	SNP	0.002	T
ATF5	22809	genome.wustl.edu	37	19	50436338	50436338	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:50436338C>T	ENST00000423777.2	+	3	1215	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.R280C	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	280					multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCAGAGGACCCGTAGCTGCTA	0.617																																					GBM(48;768 989 9196 9511 26329)	dbGAP											0													22.0	26.0	24.0					19																	50436338		2186	4288	6474	-	-	-	SO:0001583	missense	0			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.838C>T	19.37:g.50436338C>T	ENSP00000396954:p.Arg280Cys		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.R280C	ENST00000423777.2	37	c.838	CCDS12789.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096362	0.76870	.	.	ENSG00000169136	ENST00000423777	T	0.29397	1.57	4.54	0.636	0.17729	.	0.161017	0.36268	N	0.002684	T	0.33990	0.0882	N	0.22421	0.69	0.18873	N	0.999986	D	0.89917	1.0	D	0.72075	0.976	T	0.08106	-1.0738	10	0.87932	D	0	-5.0095	7.6691	0.28449	0.2981:0.6097:0.0:0.0922	.	280	Q9Y2D1	ATF5_HUMAN	C	280	ENSP00000396954:R280C	ENSP00000396954:R280C	R	+	1	0	ATF5	55128150	0.927000	0.31430	0.004000	0.12327	0.777000	0.43975	2.686000	0.46968	0.358000	0.24211	0.448000	0.29417	CGT	ATF5	-	NULL	ENSG00000169136		0.617	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF5	HGNC	protein_coding	OTTHUMT00000464915.2	30	0.00	0	C			50436338	50436338	+1	no_errors	ENST00000423777	ensembl	human	known	69_37n	missense	15	59.46	22	SNP	0.002	T
AZGP1	563	genome.wustl.edu	37	7	99573626	99573626	+	Silent	SNP	A	A	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr7:99573626A>G	ENST00000292401.4	-	1	154	c.18T>C	c.(16-18)ccT>ccC	p.P6P	AZGP1_ENST00000411734.1_Silent_p.P3P	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	6					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACAGCAGGACAGGCACCATTC	0.582																																						dbGAP											0													165.0	159.0	161.0					7																	99573626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.18T>C	7.37:g.99573626A>G			D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.P6	ENST00000292401.4	37	c.18	CCDS5680.1	7																																																																																			AZGP1	-	NULL	ENSG00000160862		0.582	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	HGNC	protein_coding	OTTHUMT00000059387.4	173	0.00	0	A	NM_001185		99573626	99573626	-1	no_errors	ENST00000292401	ensembl	human	known	69_37n	silent	147	46.74	129	SNP	0.646	G
AZGP1	563	genome.wustl.edu	37	7	99573626	99573626	+	Silent	SNP	A	A	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr7:99573626A>G	ENST00000292401.4	-	1	154	c.18T>C	c.(16-18)ccT>ccC	p.P6P	AZGP1_ENST00000411734.1_Silent_p.P3P	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	6					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACAGCAGGACAGGCACCATTC	0.582																																						dbGAP											0													165.0	159.0	161.0					7																	99573626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.18T>C	7.37:g.99573626A>G			D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.P6	ENST00000292401.4	37	c.18	CCDS5680.1	7																																																																																			AZGP1	-	NULL	ENSG00000160862		0.582	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	HGNC	protein_coding	OTTHUMT00000059387.4	309	0.00	0	A	NM_001185		99573626	99573626	-1	no_errors	ENST00000292401	ensembl	human	known	69_37n	silent	147	46.74	129	SNP	0.646	G
CCNB1	891	genome.wustl.edu	37	5	68470891	68470891	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:68470891G>T	ENST00000256442.5	+	6	1146	c.893G>T	c.(892-894)gGt>gTt	p.G298V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTGGTCTGGGTCGGCCTCTA	0.433																																						dbGAP											0													131.0	135.0	134.0					5																	68470891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.893G>T	5.37:g.68470891G>T	ENSP00000256442:p.Gly298Val		A8K066|Q5TZP9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G298V	ENST00000256442.5	37	c.893	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945037	0.73672	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.32023	2.62;2.62;2.38;1.47	6.17	5.3	0.74995	Cyclin-like (2);	0.046390	0.85682	D	0.000000	T	0.68961	0.3058	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.999	D;D;D	0.85130	0.997;0.914;0.99	T	0.80621	-0.1301	10	0.72032	D	0.01	.	15.9944	0.80230	0.0:0.0:0.8642:0.1358	.	298;298;298	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	298;298;298;114	ENSP00000256442:G298V;ENSP00000423387:G298V;ENSP00000424588:G298V;ENSP00000426230:G114V	ENSP00000256442:G298V	G	+	2	0	CCNB1	68506647	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.667000	0.74451	1.615000	0.50252	-0.169000	0.13324	GGT	CCNB1	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000134057		0.433	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1	230	0.86	2	G	NM_031966		68470891	68470891	+1	no_errors	ENST00000256442	ensembl	human	known	69_37n	missense	84	49.09	81	SNP	0.999	T
CCNB1	891	genome.wustl.edu	37	5	68470891	68470891	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr5:68470891G>T	ENST00000256442.5	+	6	1146	c.893G>T	c.(892-894)gGt>gTt	p.G298V	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	298					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTTGGTCTGGGTCGGCCTCTA	0.433																																						dbGAP											0													131.0	135.0	134.0					5																	68470891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.893G>T	5.37:g.68470891G>T	ENSP00000256442:p.Gly298Val		A8K066|Q5TZP9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.G298V	ENST00000256442.5	37	c.893	CCDS3997.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945037	0.73672	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.32023	2.62;2.62;2.38;1.47	6.17	5.3	0.74995	Cyclin-like (2);	0.046390	0.85682	D	0.000000	T	0.68961	0.3058	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;0.979;0.999	D;D;D	0.85130	0.997;0.914;0.99	T	0.80621	-0.1301	10	0.72032	D	0.01	.	15.9944	0.80230	0.0:0.0:0.8642:0.1358	.	298;298;298	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	V	298;298;298;114	ENSP00000256442:G298V;ENSP00000423387:G298V;ENSP00000424588:G298V;ENSP00000426230:G114V	ENSP00000256442:G298V	G	+	2	0	CCNB1	68506647	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	6.667000	0.74451	1.615000	0.50252	-0.169000	0.13324	GGT	CCNB1	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000134057		0.433	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB1	HGNC	protein_coding	OTTHUMT00000215084.1	162	0.00	0	G	NM_031966		68470891	68470891	+1	no_errors	ENST00000256442	ensembl	human	known	69_37n	missense	84	49.09	81	SNP	0.999	T
CDC42BPG	55561	genome.wustl.edu	37	11	64600178	64600178	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:64600178C>T	ENST00000342711.5	-	26	2902	c.2903G>A	c.(2902-2904)cGc>cAc	p.R968H	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCAAACACGCGCTGCCAGCC	0.692																																						dbGAP											0													23.0	27.0	26.0					11																	64600178		2200	4297	6497	-	-	-	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2903G>A	11.37:g.64600178C>T	ENSP00000345133:p.Arg968His			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R968H	ENST00000342711.5	37	c.2903	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.169417	0.94768	.	.	ENSG00000171219	ENST00000342711	T	0.77489	-1.1	4.45	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.38778	N	0.001568	D	0.86301	0.5900	M	0.66939	2.045	0.45477	D	0.998446	D	0.89917	1.0	D	0.87578	0.998	D	0.87748	0.2590	10	0.87932	D	0	.	14.9886	0.71368	0.0:1.0:0.0:0.0	.	968	Q6DT37	MRCKG_HUMAN	H	968	ENSP00000345133:R968H	ENSP00000345133:R968H	R	-	2	0	CDC42BPG	64356754	0.994000	0.37717	0.999000	0.59377	0.951000	0.60555	5.259000	0.65485	2.499000	0.84300	0.655000	0.94253	CGC	CDC42BPG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000171219		0.692	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	57	0.00	0	C	XM_290516		64600178	64600178	-1	no_errors	ENST00000342711	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	1.000	T
CDH9	1007	genome.wustl.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:26906161C>T	ENST00000231021.4	-	5	890	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D240N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											1	Substitution - Missense(1)	lung(1)											232.0	208.0	216.0					5																	26906161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.718G>A	5.37:g.26906161C>T	ENSP00000231021:p.Asp240Asn		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D240N	ENST00000231021.4	37	c.718	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.553655	0.96501	.	.	ENSG00000113100	ENST00000231021	T	0.79940	-1.32	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93866	0.7158	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	240	Q9ULB4	CADH9_HUMAN	N	240	ENSP00000231021:D240N	.	D	-	1	0	CDH9	26941918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	GAC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.448	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	613	0.16	1	C	NM_016279		26906161	26906161	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	286	41.51	203	SNP	1.000	T
CDH9	1007	genome.wustl.edu	37	5	26906161	26906161	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr5:26906161C>T	ENST00000231021.4	-	5	890	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D240N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCACCCATGTCTTTGGCCTGT	0.448																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											1	Substitution - Missense(1)	lung(1)											232.0	208.0	216.0					5																	26906161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.718G>A	5.37:g.26906161C>T	ENSP00000231021:p.Asp240Asn		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D240N	ENST00000231021.4	37	c.718	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.553655	0.96501	.	.	ENSG00000113100	ENST00000231021	T	0.79940	-1.32	5.6	5.6	0.85130	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.93939	3.475	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93866	0.7158	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	240	Q9ULB4	CADH9_HUMAN	N	240	ENSP00000231021:D240N	.	D	-	1	0	CDH9	26941918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.802000	0.96397	0.650000	0.86243	GAC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.448	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	520	0.00	0	C	NM_016279		26906161	26906161	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	286	41.51	203	SNP	1.000	T
COL4A1	1282	genome.wustl.edu	37	13	110850853	110850853	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr13:110850853G>A	ENST00000375820.4	-	21	1367	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P416S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	416	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGAACCAGGAGGACCCGGG	0.592																																						dbGAP											0													47.0	55.0	53.0					13																	110850853		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1246C>T	13.37:g.110850853G>A	ENSP00000364979:p.Pro416Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P416S	ENST00000375820.4	37	c.1246	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747505	0.30955	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.92858	-3.12;-3.12	5.1	5.1	0.69264	.	0.057559	0.64402	D	0.000001	D	0.95079	0.8406	M	0.78637	2.42	0.58432	D	0.999995	D	0.58970	0.984	P	0.61070	0.883	D	0.93757	0.7063	10	0.25751	T	0.34	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	416	P02462	CO4A1_HUMAN	S	410;416;416;416	ENSP00000364979:P416S;ENSP00000443348:P416S	ENSP00000364973:P410S	P	-	1	0	COL4A1	109648854	1.000000	0.71417	0.119000	0.21687	0.028000	0.11728	4.831000	0.62752	2.363000	0.80096	0.645000	0.84053	CCT	COL4A1	-	pfam_Collagen	ENSG00000187498		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	24	0.00	0	G			110850853	110850853	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.913	A
COL4A1	1282	genome.wustl.edu	37	13	110850853	110850853	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr13:110850853G>A	ENST00000375820.4	-	21	1367	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P416S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	416	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGAACCAGGAGGACCCGGG	0.592																																						dbGAP											0													47.0	55.0	53.0					13																	110850853		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1246C>T	13.37:g.110850853G>A	ENSP00000364979:p.Pro416Ser		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P416S	ENST00000375820.4	37	c.1246	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747505	0.30955	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.92858	-3.12;-3.12	5.1	5.1	0.69264	.	0.057559	0.64402	D	0.000001	D	0.95079	0.8406	M	0.78637	2.42	0.58432	D	0.999995	D	0.58970	0.984	P	0.61070	0.883	D	0.93757	0.7063	10	0.25751	T	0.34	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	416	P02462	CO4A1_HUMAN	S	410;416;416;416	ENSP00000364979:P416S;ENSP00000443348:P416S	ENSP00000364973:P410S	P	-	1	0	COL4A1	109648854	1.000000	0.71417	0.119000	0.21687	0.028000	0.11728	4.831000	0.62752	2.363000	0.80096	0.645000	0.84053	CCT	COL4A1	-	pfam_Collagen	ENSG00000187498		0.592	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	35	0.00	0	G			110850853	110850853	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.913	A
CRTAP	10491	genome.wustl.edu	37	3	33175699	33175699	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:33175699C>T	ENST00000320954.6	+	6	1193	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	CRTAP_ENST00000449224.1_Missense_Mutation_p.T322I	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	365					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTAATGTGACCACACTCCAG	0.423																																						dbGAP											0													163.0	148.0	153.0					3																	33175699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1094C>T	3.37:g.33175699C>T	ENSP00000323696:p.Thr365Ile		B2RBL6	Missense_Mutation	SNP	NULL	p.T365I	ENST00000320954.6	37	c.1094	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266747	0.80358	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59638	0.34;0.25	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68973	-0.5268	10	0.25106	T	0.35	-6.2918	18.5767	0.91157	0.0:1.0:0.0:0.0	.	322;365	C9JP16;O75718	.;CRTAP_HUMAN	I	365;352;322	ENSP00000323696:T365I;ENSP00000409997:T322I	ENSP00000323696:T365I	T	+	2	0	CRTAP	33150703	1.000000	0.71417	0.929000	0.37066	0.882000	0.50991	7.053000	0.76641	2.469000	0.83416	0.462000	0.41574	ACC	CRTAP	-	NULL	ENSG00000170275		0.423	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	425	0.70	3	C			33175699	33175699	+1	no_errors	ENST00000320954	ensembl	human	known	69_37n	missense	236	43.68	183	SNP	1.000	T
CRTAP	10491	genome.wustl.edu	37	3	33175699	33175699	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:33175699C>T	ENST00000320954.6	+	6	1193	c.1094C>T	c.(1093-1095)aCc>aTc	p.T365I	CRTAP_ENST00000449224.1_Missense_Mutation_p.T322I	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	365					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TTTAATGTGACCACACTCCAG	0.423																																						dbGAP											0													163.0	148.0	153.0					3																	33175699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.1094C>T	3.37:g.33175699C>T	ENSP00000323696:p.Thr365Ile		B2RBL6	Missense_Mutation	SNP	NULL	p.T365I	ENST00000320954.6	37	c.1094	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266747	0.80358	.	.	ENSG00000170275	ENST00000320954;ENST00000539684;ENST00000449224	T;T	0.59638	0.34;0.25	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68973	-0.5268	10	0.25106	T	0.35	-6.2918	18.5767	0.91157	0.0:1.0:0.0:0.0	.	322;365	C9JP16;O75718	.;CRTAP_HUMAN	I	365;352;322	ENSP00000323696:T365I;ENSP00000409997:T322I	ENSP00000323696:T365I	T	+	2	0	CRTAP	33150703	1.000000	0.71417	0.929000	0.37066	0.882000	0.50991	7.053000	0.76641	2.469000	0.83416	0.462000	0.41574	ACC	CRTAP	-	NULL	ENSG00000170275		0.423	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	389	0.00	0	C			33175699	33175699	+1	no_errors	ENST00000320954	ensembl	human	known	69_37n	missense	236	43.68	183	SNP	1.000	T
CSMD2	114784	genome.wustl.edu	37	1	34191137	34191137	+	Splice_Site	SNP	T	T	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:34191137T>G	ENST00000373381.4	-	17	2684	c.2508A>C	c.(2506-2508)agA>agC	p.R836S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	796	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTTTTGAATCTGCCAAATG	0.498																																						dbGAP											0													63.0	69.0	67.0					1																	34191137		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2508-1A>C	1.37:g.34191137T>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R836S	ENST00000373381.4	37	c.2508		1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310537	0.40895	.	.	ENSG00000121904	ENST00000373381	T	0.16324	2.35	5.89	1.04	0.20106	CUB (5);	0.052943	0.85682	D	0.000000	T	0.14657	0.0354	N	0.04063	-0.285	0.80722	D	1	P;D	0.53462	0.863;0.96	P;P	0.61477	0.593;0.889	T	0.07328	-1.0778	10	0.34782	T	0.22	.	9.9729	0.41765	0.0:0.5003:0.0:0.4997	.	796;836	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	836	ENSP00000362479:R836S	ENSP00000241312:R796S	R	-	3	2	CSMD2	33963724	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	1.002000	0.29796	-0.060000	0.13132	0.533000	0.62120	AGA	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.498	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		173	0.00	0	T	NM_052896	Missense_Mutation	34191137	34191137	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	69	49.26	67	SNP	1.000	G
CSMD2	114784	genome.wustl.edu	37	1	34191137	34191137	+	Splice_Site	SNP	T	T	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:34191137T>G	ENST00000373381.4	-	17	2684	c.2508A>C	c.(2506-2508)agA>agC	p.R836S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	796	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGTTTTGAATCTGCCAAATG	0.498																																						dbGAP											0													63.0	69.0	67.0					1																	34191137		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2508-1A>C	1.37:g.34191137T>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R836S	ENST00000373381.4	37	c.2508		1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310537	0.40895	.	.	ENSG00000121904	ENST00000373381	T	0.16324	2.35	5.89	1.04	0.20106	CUB (5);	0.052943	0.85682	D	0.000000	T	0.14657	0.0354	N	0.04063	-0.285	0.80722	D	1	P;D	0.53462	0.863;0.96	P;P	0.61477	0.593;0.889	T	0.07328	-1.0778	10	0.34782	T	0.22	.	9.9729	0.41765	0.0:0.5003:0.0:0.4997	.	796;836	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	836	ENSP00000362479:R836S	ENSP00000241312:R796S	R	-	3	2	CSMD2	33963724	1.000000	0.71417	0.997000	0.53966	0.034000	0.12701	1.002000	0.29796	-0.060000	0.13132	0.533000	0.62120	AGA	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.498	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		130	0.00	0	T	NM_052896	Missense_Mutation	34191137	34191137	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	69	49.26	67	SNP	1.000	G
CTIF	9811	genome.wustl.edu	37	18	46284669	46284669	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr18:46284669G>C	ENST00000256413.3	+	8	1259	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	CTIF_ENST00000382998.4_Missense_Mutation_p.E322Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	322					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCCAGAGGTTGAGACAAAACG	0.627																																						dbGAP											0													73.0	89.0	84.0					18																	46284669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.964G>C	18.37:g.46284669G>C	ENSP00000256413:p.Glu322Gln		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E322Q	ENST00000256413.3	37	c.964	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452428	0.63290	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.54479	0.57;0.65	5.51	5.51	0.81932	.	0.065773	0.64402	D	0.000017	T	0.65112	0.2660	L	0.50333	1.59	0.33059	D	0.533859	D;D	0.71674	0.998;0.998	P;P	0.62089	0.898;0.852	T	0.69716	-0.5070	10	0.35671	T	0.21	-8.3408	17.5977	0.88016	0.0:0.0:1.0:0.0	.	322;322	O43310-2;O43310	.;CTIF_HUMAN	Q	322;322;274	ENSP00000256413:E322Q;ENSP00000372459:E322Q	ENSP00000256413:E322Q	E	+	1	0	CTIF	44538667	0.999000	0.42202	0.937000	0.37676	0.735000	0.41995	4.737000	0.62066	2.584000	0.87258	0.561000	0.74099	GAG	CTIF	-	NULL	ENSG00000134030		0.627	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	15	0.00	0	G	NM_014772		46284669	46284669	+1	no_errors	ENST00000382998	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.660	C
CTIF	9811	genome.wustl.edu	37	18	46284669	46284669	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr18:46284669G>C	ENST00000256413.3	+	8	1259	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	CTIF_ENST00000382998.4_Missense_Mutation_p.E322Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	322					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCCAGAGGTTGAGACAAAACG	0.627																																						dbGAP											0													73.0	89.0	84.0					18																	46284669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.964G>C	18.37:g.46284669G>C	ENSP00000256413:p.Glu322Gln		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E322Q	ENST00000256413.3	37	c.964	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452428	0.63290	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.54479	0.57;0.65	5.51	5.51	0.81932	.	0.065773	0.64402	D	0.000017	T	0.65112	0.2660	L	0.50333	1.59	0.33059	D	0.533859	D;D	0.71674	0.998;0.998	P;P	0.62089	0.898;0.852	T	0.69716	-0.5070	10	0.35671	T	0.21	-8.3408	17.5977	0.88016	0.0:0.0:1.0:0.0	.	322;322	O43310-2;O43310	.;CTIF_HUMAN	Q	322;322;274	ENSP00000256413:E322Q;ENSP00000372459:E322Q	ENSP00000256413:E322Q	E	+	1	0	CTIF	44538667	0.999000	0.42202	0.937000	0.37676	0.735000	0.41995	4.737000	0.62066	2.584000	0.87258	0.561000	0.74099	GAG	CTIF	-	NULL	ENSG00000134030		0.627	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	31	0.00	0	G	NM_014772		46284669	46284669	+1	no_errors	ENST00000382998	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.660	C
CTNNAL1	8727	genome.wustl.edu	37	9	111735100	111735100	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr9:111735100G>T	ENST00000325551.4	-	9	1288	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A401E|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	401					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGCTGTGTCGCTGTACTATG	0.433																																						dbGAP											0													50.0	49.0	49.0					9																	111735100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1202C>A	9.37:g.111735100G>T	ENSP00000320434:p.Ala401Glu		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A401E	ENST00000325551.4	37	c.1202	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.198385	0.94997	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.37058	1.22;1.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58797	-0.7573	10	0.38643	T	0.18	-14.0562	18.0604	0.89375	0.0:0.0:1.0:0.0	.	401;401;401	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	E	401	ENSP00000363723:A401E;ENSP00000320434:A401E	ENSP00000320434:A401E	A	-	2	0	CTNNAL1	110774921	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	9.244000	0.95423	2.854000	0.98071	0.655000	0.94253	GCG	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000119326		0.433	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	84	0.00	0	G	NM_003798		111735100	111735100	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	50	36.25	29	SNP	1.000	T
CTNNAL1	8727	genome.wustl.edu	37	9	111735100	111735100	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr9:111735100G>T	ENST00000325551.4	-	9	1288	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.A401E|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	401					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGCTGTGTCGCTGTACTATG	0.433																																						dbGAP											0													50.0	49.0	49.0					9																	111735100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1202C>A	9.37:g.111735100G>T	ENSP00000320434:p.Ala401Glu		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.A401E	ENST00000325551.4	37	c.1202	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.198385	0.94997	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.37058	1.22;1.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.58797	-0.7573	10	0.38643	T	0.18	-14.0562	18.0604	0.89375	0.0:0.0:1.0:0.0	.	401;401;401	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	E	401	ENSP00000363723:A401E;ENSP00000320434:A401E	ENSP00000320434:A401E	A	-	2	0	CTNNAL1	110774921	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	9.244000	0.95423	2.854000	0.98071	0.655000	0.94253	GCG	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000119326		0.433	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	81	0.00	0	G	NM_003798		111735100	111735100	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	50	36.25	29	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13759060	13759060	+	Silent	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:13759060G>A	ENST00000265104.4	-	61	10418	c.10314C>T	c.(10312-10314)ctC>ctT	p.L3438L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGGCCAGGAGATGGCGAT	0.542									Kartagener syndrome																													dbGAP											0													183.0	164.0	171.0					5																	13759060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10314C>T	5.37:g.13759060G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3438	ENST00000265104.4	37	c.10314	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	95	0.00	0	G	NM_001369		13759060	13759060	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	93	51.56	99	SNP	0.005	A
DNAH5	1767	genome.wustl.edu	37	5	13759060	13759060	+	Silent	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr5:13759060G>A	ENST00000265104.4	-	61	10418	c.10314C>T	c.(10312-10314)ctC>ctT	p.L3438L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3438	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATGGCCAGGAGATGGCGAT	0.542									Kartagener syndrome																													dbGAP											0													183.0	164.0	171.0					5																	13759060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10314C>T	5.37:g.13759060G>A			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3438	ENST00000265104.4	37	c.10314	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	184	0.00	0	G	NM_001369		13759060	13759060	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	93	51.56	99	SNP	0.005	A
DOT1L	84444	genome.wustl.edu	37	19	2213589	2213589	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr19:2213589C>G	ENST00000398665.3	+	17	1645	c.1609C>G	c.(1609-1611)Cag>Gag	p.Q537E	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	537					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCACTGCCAGGCCCAGAA	0.622																																						dbGAP											0													53.0	58.0	56.0					19																	2213589		2021	4167	6188	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1609C>G	19.37:g.2213589C>G	ENSP00000381657:p.Gln537Glu		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q537E	ENST00000398665.3	37	c.1609	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195147	0.58017	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.23147	1.92	4.76	4.76	0.60689	.	0.058919	0.64402	D	0.000001	T	0.31857	0.0810	M	0.66939	2.045	0.41965	D	0.990722	B	0.13145	0.007	B	0.13407	0.009	T	0.21211	-1.0252	10	0.87932	D	0	-21.1905	16.771	0.85537	0.0:1.0:0.0:0.0	.	537	Q8TEK3-2	.	E	537	ENSP00000381657:Q537E	ENSP00000221482:Q537E	Q	+	1	0	DOT1L	2164589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.815000	0.75242	2.185000	0.69588	0.561000	0.74099	CAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	113	0.00	0	C	NM_032482		2213589	2213589	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	108	47.32	97	SNP	1.000	G
DOT1L	84444	genome.wustl.edu	37	19	2213589	2213589	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:2213589C>G	ENST00000398665.3	+	17	1645	c.1609C>G	c.(1609-1611)Cag>Gag	p.Q537E	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	537					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCACTGCCAGGCCCAGAA	0.622																																						dbGAP											0													53.0	58.0	56.0					19																	2213589		2021	4167	6188	-	-	-	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1609C>G	19.37:g.2213589C>G	ENSP00000381657:p.Gln537Glu		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.Q537E	ENST00000398665.3	37	c.1609	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195147	0.58017	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.23147	1.92	4.76	4.76	0.60689	.	0.058919	0.64402	D	0.000001	T	0.31857	0.0810	M	0.66939	2.045	0.41965	D	0.990722	B	0.13145	0.007	B	0.13407	0.009	T	0.21211	-1.0252	10	0.87932	D	0	-21.1905	16.771	0.85537	0.0:1.0:0.0:0.0	.	537	Q8TEK3-2	.	E	537	ENSP00000381657:Q537E	ENSP00000221482:Q537E	Q	+	1	0	DOT1L	2164589	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.815000	0.75242	2.185000	0.69588	0.561000	0.74099	CAG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	167	0.60	1	C	NM_032482		2213589	2213589	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	missense	108	47.32	97	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41719610	41719610	+	Silent	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr21:41719610C>T	ENST00000400454.1	-	6	1674	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	399	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGACCACCTGCACATAGT	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													176.0	159.0	165.0					21																	41719610		1983	4171	6154	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1197G>A	21.37:g.41719610C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q399	ENST00000400454.1	37	c.1197	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000171587		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	176	0.56	1	C	NM_001389		41719610	41719610	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	134	46.18	115	SNP	0.996	T
DSCAM	1826	genome.wustl.edu	37	21	41719610	41719610	+	Silent	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr21:41719610C>T	ENST00000400454.1	-	6	1674	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	399	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGACCACCTGCACATAGT	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													176.0	159.0	165.0					21																	41719610		1983	4171	6154	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1197G>A	21.37:g.41719610C>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q399	ENST00000400454.1	37	c.1197	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000171587		0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	228	0.00	0	C	NM_001389		41719610	41719610	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	134	46.18	115	SNP	0.996	T
EIF3H	8667	genome.wustl.edu	37	8	117671073	117671073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr8:117671073C>A	ENST00000276682.4	-	5	1244	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	EIF3H_ENST00000521861.1_Nonsense_Mutation_p.E146*					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					ACGACAGATTCTTCAATGGCA	0.398																																						dbGAP											0													129.0	121.0	124.0					8																	117671073		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.478G>T	8.37:g.117671073C>A	ENSP00000276682:p.Glu160*			Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E146*	ENST00000276682.4	37	c.436		8	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890443	0.52014	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995;ENST00000522453	.	.	.	5.65	5.65	0.86999	.	0.042956	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-25.8331	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	146;160;114;162;170	.	ENSP00000276682:E160X	E	-	1	0	EIF3H	117740254	1.000000	0.71417	0.878000	0.34440	0.992000	0.81027	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GAA	EIF3H	-	smart_JAB1_Mov34_MPN_PAD1	ENSG00000147677		0.398	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	162	0.61	1	C	NM_003756		117671073	117671073	-1	no_errors	ENST00000521861	ensembl	human	known	69_37n	nonsense	76	48.30	71	SNP	1.000	A
EIF3H	8667	genome.wustl.edu	37	8	117671073	117671073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr8:117671073C>A	ENST00000276682.4	-	5	1244	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	EIF3H_ENST00000521861.1_Nonsense_Mutation_p.E146*					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					ACGACAGATTCTTCAATGGCA	0.398																																						dbGAP											0													129.0	121.0	124.0					8																	117671073		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.478G>T	8.37:g.117671073C>A	ENSP00000276682:p.Glu160*			Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E146*	ENST00000276682.4	37	c.436		8	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890443	0.52014	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995;ENST00000522453	.	.	.	5.65	5.65	0.86999	.	0.042956	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-25.8331	19.9142	0.97043	0.0:1.0:0.0:0.0	.	.	.	.	X	146;160;114;162;170	.	ENSP00000276682:E160X	E	-	1	0	EIF3H	117740254	1.000000	0.71417	0.878000	0.34440	0.992000	0.81027	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GAA	EIF3H	-	smart_JAB1_Mov34_MPN_PAD1	ENSG00000147677		0.398	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	125	0.79	1	C	NM_003756		117671073	117671073	-1	no_errors	ENST00000521861	ensembl	human	known	69_37n	nonsense	76	48.30	71	SNP	1.000	A
ELAC2	60528	genome.wustl.edu	37	17	12913975	12913975	+	Silent	SNP	T	T	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:12913975T>C	ENST00000338034.4	-	8	932	c.693A>G	c.(691-693)agA>agG	p.R231R	ELAC2_ENST00000395962.2_Silent_p.R212R|ELAC2_ENST00000426905.3_Silent_p.R191R|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	231					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGACCCCTCTTCTCTGGCTAA	0.473																																						dbGAP											0													75.0	66.0	69.0					17																	12913975		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.693A>G	17.37:g.12913975T>C			B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	NULL	p.K8E	ENST00000338034.4	37	c.22	CCDS11164.1	17	.	.	.	.	.	.	.	.	.	.	T	7.096	0.573071	0.13623	.	.	ENSG00000006744	ENST00000446899	.	.	.	4.28	-1.65	0.08291	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	-0.1435	8.708	0.34367	0.0:0.4841:0.0:0.5159	.	.	.	.	E	8	.	.	K	-	1	0	ELAC2	12854700	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.641000	0.05434	-0.363000	0.08101	0.533000	0.62120	AAG	ELAC2	-	NULL	ENSG00000006744		0.473	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	127	0.00	0	T			12913975	12913975	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000446899	ensembl	human	putative	69_37n	missense	81	40.88	56	SNP	0.000	C
FGFR2	2263	genome.wustl.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> H (in CS; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAAGAAGATTTATGATAT	0.423	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	33	Substitution - Missense(33)	endometrium(33)											169.0	151.0	157.0					10																	123258034		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1647T>A	10.37:g.123258034A>T	ENSP00000351276:p.Asn549Lys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N550K	ENST00000358487.5	37	c.1650	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713491	0.68730	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.02	2.67	0.31697	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	N	0.04880	-0.145	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.85769	0.1354	10	0.87932	D	0	.	7.515	0.27596	0.7605:0.0:0.2395:0.0	.	566;548;460;432;549;461;550;452	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	K	460;550;437;549;432;433;435;141;547;550;547;461;550;550;458	ENSP00000350166:N460K;ENSP00000358057:N437K;ENSP00000351276:N549K;ENSP00000348559:N432K;ENSP00000358056:N433K;ENSP00000358055:N435K;ENSP00000404219:N141K;ENSP00000263451:N547K;ENSP00000410294:N550K;ENSP00000309878:N547K;ENSP00000353262:N461K;ENSP00000358052:N550K;ENSP00000358054:N550K;ENSP00000337665:N458K	ENSP00000337665:N458K	N	-	3	2	FGFR2	123248024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	0.269000	0.21961	0.482000	0.46254	AAT	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_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	ENSG00000066468		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	456	0.00	0	A	NM_022976, NM_000141		123258034	123258034	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	226	43.92	177	SNP	1.000	T
FGFR2	2263	genome.wustl.edu	37	10	123258034	123258034	+	Missense_Mutation	SNP	A	A	T	rs121913476		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr10:123258034A>T	ENST00000358487.5	-	12	1919	c.1647T>A	c.(1645-1647)aaT>aaA	p.N549K	FGFR2_ENST00000478859.1_Missense_Mutation_p.N321K|FGFR2_ENST00000357555.5_Missense_Mutation_p.N460K|FGFR2_ENST00000369060.4_Missense_Mutation_p.N433K|FGFR2_ENST00000346997.2_Missense_Mutation_p.N547K|FGFR2_ENST00000356226.4_Missense_Mutation_p.N432K|FGFR2_ENST00000369061.4_Missense_Mutation_p.N437K|FGFR2_ENST00000369059.1_Missense_Mutation_p.N435K|FGFR2_ENST00000369056.1_Missense_Mutation_p.N550K|FGFR2_ENST00000360144.3_Missense_Mutation_p.N461K|FGFR2_ENST00000351936.6_Missense_Mutation_p.N547K|FGFR2_ENST00000457416.2_Missense_Mutation_p.N550K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> H (in CS; constitutive kinase activity). {ECO:0000269|PubMed:11781872}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N549K(21)|p.N547K(4)|p.N460K(4)|p.N550K(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCCAAGAAGATTTATGATAT	0.423	N549K(AN3CA_ENDOMETRIUM)|N549K(MFE296_ENDOMETRIUM)	5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	33	Substitution - Missense(33)	endometrium(33)											169.0	151.0	157.0					10																	123258034		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1647T>A	10.37:g.123258034A>T	ENSP00000351276:p.Asn549Lys		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N550K	ENST00000358487.5	37	c.1650	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713491	0.68730	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.02	2.67	0.31697	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	N	0.04880	-0.145	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;1.0;1.0;0.999;1.0;1.0	D	0.85769	0.1354	10	0.87932	D	0	.	7.515	0.27596	0.7605:0.0:0.2395:0.0	.	566;548;460;432;549;461;550;452	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	K	460;550;437;549;432;433;435;141;547;550;547;461;550;550;458	ENSP00000350166:N460K;ENSP00000358057:N437K;ENSP00000351276:N549K;ENSP00000348559:N432K;ENSP00000358056:N433K;ENSP00000358055:N435K;ENSP00000404219:N141K;ENSP00000263451:N547K;ENSP00000410294:N550K;ENSP00000309878:N547K;ENSP00000353262:N461K;ENSP00000358052:N550K;ENSP00000358054:N550K;ENSP00000337665:N458K	ENSP00000337665:N458K	N	-	3	2	FGFR2	123248024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	0.269000	0.21961	0.482000	0.46254	AAT	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_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	ENSG00000066468		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	463	0.00	0	A	NM_022976, NM_000141		123258034	123258034	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	226	43.92	177	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216288147	216288147	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr2:216288147C>A	ENST00000359671.1	-	9	1584	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	FN1_ENST00000432072.2_Missense_Mutation_p.R440I|FN1_ENST00000356005.4_Missense_Mutation_p.R440I|FN1_ENST00000446046.1_Missense_Mutation_p.R440I|FN1_ENST00000443816.1_Missense_Mutation_p.R440I|FN1_ENST00000354785.4_Missense_Mutation_p.R440I|FN1_ENST00000323926.6_Missense_Mutation_p.R440I|FN1_ENST00000336916.4_Missense_Mutation_p.R440I|FN1_ENST00000346544.3_Missense_Mutation_p.R440I|FN1_ENST00000357009.2_Missense_Mutation_p.R440I|FN1_ENST00000421182.1_Missense_Mutation_p.R440I|FN1_ENST00000345488.5_Missense_Mutation_p.R440I|FN1_ENST00000357867.4_Missense_Mutation_p.R440I|FN1_ENST00000426059.1_Missense_Mutation_p.R440I			P02751	FINC_HUMAN	fibronectin 1	440	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CATGTTGTCTCTTCTGCCCTC	0.498																																						dbGAP											0													150.0	131.0	137.0					2																	216288147		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1319G>T	2.37:g.216288147C>A	ENSP00000352696:p.Arg440Ile		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.R440I	ENST00000359671.1	37	c.1319		2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017500	0.93404	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	T	0.64571	0.2610	L	0.43923	1.385	0.80722	D	1	P;D;P;P;D;D;D;D;D;D;D	0.76494	0.906;0.993;0.903;0.91;0.997;0.998;0.999;0.997;0.997;0.997;0.988	P;D;P;B;P;D;D;D;P;P;D	0.72625	0.742;0.963;0.648;0.311;0.887;0.932;0.929;0.978;0.887;0.887;0.972	T	0.63359	-0.6655	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	440;440;440;440;440;440;440;440;440;440;440	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	I	440	ENSP00000394423:R440I;ENSP00000323534:R440I;ENSP00000338200:R440I;ENSP00000350534:R440I;ENSP00000346839:R440I;ENSP00000352696:R440I;ENSP00000265312:R440I;ENSP00000273049:R440I;ENSP00000349509:R440I;ENSP00000410422:R440I;ENSP00000415018:R440I;ENSP00000399538:R440I;ENSP00000348285:R440I;ENSP00000398907:R440I	ENSP00000265313:R440I	R	-	2	0	FN1	215996392	0.714000	0.27936	0.993000	0.49108	0.969000	0.65631	3.916000	0.56416	2.882000	0.98803	0.655000	0.94253	AGA	FN1	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000115414		0.498	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		261	0.00	0	C	NM_212476		216288147	216288147	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	154	48.15	143	SNP	0.999	A
GCN1L1	10985	genome.wustl.edu	37	12	120602272	120602272	+	Silent	SNP	C	C	A	rs372774785		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr12:120602272C>A	ENST00000300648.6	-	18	1728	c.1716G>T	c.(1714-1716)gtG>gtT	p.V572V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	572					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCAGGAGCACCGCCACCA	0.642																																						dbGAP											0													42.0	47.0	46.0					12																	120602272		1984	4151	6135	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1716G>T	12.37:g.120602272C>A			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V572	ENST00000300648.6	37	c.1716	CCDS41847.1	12																																																																																			GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.642	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	38	0.00	0	C			120602272	120602272	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	23	48.89	22	SNP	0.963	A
GCN1L1	10985	genome.wustl.edu	37	12	120602272	120602272	+	Silent	SNP	C	C	A	rs372774785		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:120602272C>A	ENST00000300648.6	-	18	1728	c.1716G>T	c.(1714-1716)gtG>gtT	p.V572V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	572					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTCAGGAGCACCGCCACCA	0.642																																						dbGAP											0													42.0	47.0	46.0					12																	120602272		1984	4151	6135	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1716G>T	12.37:g.120602272C>A			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V572	ENST00000300648.6	37	c.1716	CCDS41847.1	12																																																																																			GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.642	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	56	0.00	0	C			120602272	120602272	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	23	48.89	22	SNP	0.963	A
GNAS	2778	genome.wustl.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80.0	78.0	79.0					20																	57484421		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202H	ENST00000371085.3	37	c.605	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	150	0.00	0	G	NM_000516		57484421	57484421	+1	no_errors	ENST00000354359	ensembl	human	known	69_37n	missense	93	48.04	86	SNP	1.000	A
GNAS	2778	genome.wustl.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80.0	78.0	79.0					20																	57484421		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202H	ENST00000371085.3	37	c.605	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	156	0.00	0	G	NM_000516		57484421	57484421	+1	no_errors	ENST00000354359	ensembl	human	known	69_37n	missense	93	48.04	86	SNP	1.000	A
IPO13	9670	genome.wustl.edu	37	1	44426575	44426575	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:44426575G>T	ENST00000372343.3	+	13	2799	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	713					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGAAGTCTGTTAAGACGCT	0.577																																						dbGAP											0													145.0	124.0	131.0					1																	44426575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2137G>T	1.37:g.44426575G>T	ENSP00000361418:p.Val713Phe		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V713F	ENST00000372343.3	37	c.2137	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820524	0.90873	.	.	ENSG00000117408	ENST00000372343	T	0.68624	-0.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.56769	1.78	0.80722	D	1	P	0.42649	0.786	B	0.36244	0.22	T	0.60464	-0.7258	10	0.17832	T	0.49	-17.477	19.6787	0.95950	0.0:0.0:1.0:0.0	.	713	O94829	IPO13_HUMAN	F	713	ENSP00000361418:V713F	ENSP00000361418:V713F	V	+	1	0	IPO13	44199162	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	9.523000	0.98034	2.884000	0.98904	0.655000	0.94253	GTT	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.577	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	89	0.00	0	G	NM_014652		44426575	44426575	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	71	44.09	56	SNP	1.000	T
IPO13	9670	genome.wustl.edu	37	1	44426575	44426575	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:44426575G>T	ENST00000372343.3	+	13	2799	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	713					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGAGAAGTCTGTTAAGACGCT	0.577																																						dbGAP											0													145.0	124.0	131.0					1																	44426575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2137G>T	1.37:g.44426575G>T	ENSP00000361418:p.Val713Phe		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V713F	ENST00000372343.3	37	c.2137	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820524	0.90873	.	.	ENSG00000117408	ENST00000372343	T	0.68624	-0.34	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.56769	1.78	0.80722	D	1	P	0.42649	0.786	B	0.36244	0.22	T	0.60464	-0.7258	10	0.17832	T	0.49	-17.477	19.6787	0.95950	0.0:0.0:1.0:0.0	.	713	O94829	IPO13_HUMAN	F	713	ENSP00000361418:V713F	ENSP00000361418:V713F	V	+	1	0	IPO13	44199162	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	9.523000	0.98034	2.884000	0.98904	0.655000	0.94253	GTT	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.577	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	121	0.00	0	G	NM_014652		44426575	44426575	+1	no_errors	ENST00000372343	ensembl	human	known	69_37n	missense	71	44.09	56	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152193787	152193787	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:152193787G>C	ENST00000368801.2	-	3	393	c.318C>G	c.(316-318)caC>caG	p.H106Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	106					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGTGCTGGTGAGTGTCAT	0.413																																						dbGAP											0													229.0	175.0	193.0					1																	152193787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.318C>G	1.37:g.152193787G>C	ENSP00000357791:p.His106Gln		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.H106Q	ENST00000368801.2	37	c.318	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408205	0.11754	.	.	ENSG00000197915	ENST00000368801	T	0.01745	4.66	4.96	4.04	0.47022	.	.	.	.	.	T	0.01558	0.0050	M	0.75615	2.305	0.09310	N	1	P	0.46512	0.879	B	0.43575	0.424	T	0.43147	-0.9409	9	0.62326	D	0.03	.	9.2054	0.37287	0.098:0.0:0.902:0.0	.	106	Q86YZ3	HORN_HUMAN	Q	106	ENSP00000357791:H106Q	ENSP00000357791:H106Q	H	-	3	2	HRNR	150460411	0.027000	0.19231	0.043000	0.18650	0.066000	0.16364	0.733000	0.26087	1.458000	0.47871	0.637000	0.83480	CAC	HRNR	-	NULL	ENSG00000197915		0.413	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	642	0.00	0	G	XM_373868		152193787	152193787	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	551	24.90	183	SNP	0.067	C
HRNR	388697	genome.wustl.edu	37	1	152193787	152193787	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:152193787G>C	ENST00000368801.2	-	3	393	c.318C>G	c.(316-318)caC>caG	p.H106Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	106					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGTGCTGGTGAGTGTCAT	0.413																																						dbGAP											0													229.0	175.0	193.0					1																	152193787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.318C>G	1.37:g.152193787G>C	ENSP00000357791:p.His106Gln		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.H106Q	ENST00000368801.2	37	c.318	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	6.217	0.408205	0.11754	.	.	ENSG00000197915	ENST00000368801	T	0.01745	4.66	4.96	4.04	0.47022	.	.	.	.	.	T	0.01558	0.0050	M	0.75615	2.305	0.09310	N	1	P	0.46512	0.879	B	0.43575	0.424	T	0.43147	-0.9409	9	0.62326	D	0.03	.	9.2054	0.37287	0.098:0.0:0.902:0.0	.	106	Q86YZ3	HORN_HUMAN	Q	106	ENSP00000357791:H106Q	ENSP00000357791:H106Q	H	-	3	2	HRNR	150460411	0.027000	0.19231	0.043000	0.18650	0.066000	0.16364	0.733000	0.26087	1.458000	0.47871	0.637000	0.83480	CAC	HRNR	-	NULL	ENSG00000197915		0.413	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	552	0.00	0	G	XM_373868		152193787	152193787	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	551	24.90	183	SNP	0.067	C
KDR	3791	genome.wustl.edu	37	4	55955083	55955083	+	Silent	SNP	T	T	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr4:55955083T>A	ENST00000263923.4	-	26	3757	c.3462A>T	c.(3460-3462)tcA>tcT	p.S1154S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCAACTCTGAAAACGTGG	0.473			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													121.0	117.0	118.0					4																	55955083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3462A>T	4.37:g.55955083T>A			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.S1154	ENST00000263923.4	37	c.3462	CCDS3497.1	4																																																																																			KDR	-	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	ENSG00000128052		0.473	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	236	0.00	0	T			55955083	55955083	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	silent	185	17.04	38	SNP	0.995	A
KDR	3791	genome.wustl.edu	37	4	55955083	55955083	+	Silent	SNP	T	T	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr4:55955083T>A	ENST00000263923.4	-	26	3757	c.3462A>T	c.(3460-3462)tcA>tcT	p.S1154S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCACCAACTCTGAAAACGTGG	0.473			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													121.0	117.0	118.0					4																	55955083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3462A>T	4.37:g.55955083T>A			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.S1154	ENST00000263923.4	37	c.3462	CCDS3497.1	4																																																																																			KDR	-	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	ENSG00000128052		0.473	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	237	0.00	0	T			55955083	55955083	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	silent	185	17.04	38	SNP	0.995	A
KLRC2	3822	genome.wustl.edu	37	12	10586464	10586466	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr12:10586464_10586466delTTC	ENST00000381902.2	-	4	413_415	c.407_409delGAA	c.(406-411)agaact>act	p.R136del	KLRC2_ENST00000381901.1_In_Frame_Del_p.R136del|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_In_Frame_Del_p.R77del	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TCTTCCCAAGTTCTTCTTTCCTT	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.407_409delGAA	12.37:g.10586467_10586469delTTC	ENSP00000371327:p.Arg136del		O43802|Q52M74|Q9NR42	In_Frame_Del	DEL	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R136in_frame_del	ENST00000381902.2	37	c.409_407	CCDS31745.1	12																																																																																			KLRC2	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000205809		0.360	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC2	HGNC	protein_coding	OTTHUMT00000400111.1	600	0.00	0	TTC	NM_002260		10586464	10586466	-1	no_errors	ENST00000381901	ensembl	human	known	69_37n	in_frame_del	198	37.19	119	DEL	0.001:0.009:0.008	-
KLRC2	3822	genome.wustl.edu	37	12	10586464	10586466	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:10586464_10586466delTTC	ENST00000381902.2	-	4	413_415	c.407_409delGAA	c.(406-411)agaact>act	p.R136del	KLRC2_ENST00000381901.1_In_Frame_Del_p.R136del|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_In_Frame_Del_p.R77del	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TCTTCCCAAGTTCTTCTTTCCTT	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X54869	CCDS31745.1	12p13	2009-12-03				ENSG00000205809		"""Killer cell lectin-like receptors"", ""CD molecules"""	6375	protein-coding gene	gene with protein product		602891				9598306	Standard	NM_002260		Approved	NKG2-C, CD159c		P26717		ENST00000381902.2:c.407_409delGAA	12.37:g.10586467_10586469delTTC	ENSP00000371327:p.Arg136del		O43802|Q52M74|Q9NR42	In_Frame_Del	DEL	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R136in_frame_del	ENST00000381902.2	37	c.409_407	CCDS31745.1	12																																																																																			KLRC2	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000205809		0.360	KLRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC2	HGNC	protein_coding	OTTHUMT00000400111.1	472	0.00	0	TTC	NM_002260		10586464	10586466	-1	no_errors	ENST00000381901	ensembl	human	known	69_37n	in_frame_del	198	37.19	119	DEL	0.001:0.009:0.008	-
KRT82	3888	genome.wustl.edu	37	12	52797575	52797575	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr12:52797575C>T	ENST00000257974.2	-	2	607	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	177	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGCTGCCGCCGAAGGGCGCT	0.582																																						dbGAP											0													59.0	62.0	61.0					12																	52797575		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.530G>A	12.37:g.52797575C>T	ENSP00000257974:p.Arg177Gln			Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.R177Q	ENST00000257974.2	37	c.530	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341104	0.60963	.	.	ENSG00000161850	ENST00000257974	D	0.92595	-3.07	5.14	3.28	0.37604	Filament (1);	0.000000	0.47455	D	0.000239	D	0.90130	0.6916	M	0.75447	2.3	0.33500	D	0.589816	B	0.34214	0.442	B	0.30029	0.11	D	0.92873	0.6316	10	0.62326	D	0.03	.	12.5514	0.56229	0.0:0.8548:0.0:0.1452	.	177	Q9NSB4	KRT82_HUMAN	Q	177	ENSP00000257974:R177Q	ENSP00000257974:R177Q	R	-	2	0	KRT82	51083842	0.046000	0.20272	0.713000	0.30519	0.403000	0.30841	2.536000	0.45693	1.310000	0.45006	0.462000	0.41574	CGG	KRT82	-	pfam_F	ENSG00000161850		0.582	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	21	0.00	0	C	NM_033033		52797575	52797575	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	1.000	T
KRT82	3888	genome.wustl.edu	37	12	52797575	52797575	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr12:52797575C>T	ENST00000257974.2	-	2	607	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	177	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGCTGCCGCCGAAGGGCGCT	0.582																																						dbGAP											0													59.0	62.0	61.0					12																	52797575		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.530G>A	12.37:g.52797575C>T	ENSP00000257974:p.Arg177Gln			Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.R177Q	ENST00000257974.2	37	c.530	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341104	0.60963	.	.	ENSG00000161850	ENST00000257974	D	0.92595	-3.07	5.14	3.28	0.37604	Filament (1);	0.000000	0.47455	D	0.000239	D	0.90130	0.6916	M	0.75447	2.3	0.33500	D	0.589816	B	0.34214	0.442	B	0.30029	0.11	D	0.92873	0.6316	10	0.62326	D	0.03	.	12.5514	0.56229	0.0:0.8548:0.0:0.1452	.	177	Q9NSB4	KRT82_HUMAN	Q	177	ENSP00000257974:R177Q	ENSP00000257974:R177Q	R	-	2	0	KRT82	51083842	0.046000	0.20272	0.713000	0.30519	0.403000	0.30841	2.536000	0.45693	1.310000	0.45006	0.462000	0.41574	CGG	KRT82	-	pfam_F	ENSG00000161850		0.582	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	37	0.00	0	C	NM_033033		52797575	52797575	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	1.000	T
L3MBTL3	84456	genome.wustl.edu	37	6	130407393	130407393	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr6:130407393A>G	ENST00000529410.1	+	18	1995	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.K506E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.K481E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.K481E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.K506E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.K481E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	506					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCACCGGGTAAAAGTAAGTGT	0.373																																						dbGAP											0													192.0	216.0	208.0					6																	130407393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1516A>G	6.37:g.130407393A>G	ENSP00000431962:p.Lys506Glu		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.K506E	ENST00000529410.1	37	c.1516	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887418	0.72410	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.36	5.36	0.76844	.	0.096318	0.64402	D	0.000001	T	0.50326	0.1609	M	0.78637	2.42	0.53688	D	0.999979	D;D	0.69078	0.997;0.981	P;P	0.57548	0.8;0.823	T	0.58769	-0.7578	10	0.66056	D	0.02	.	12.8807	0.58015	1.0:0.0:0.0:0.0	.	481;506	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	E	506;481;506;481;481;506	ENSP00000431962:K506E;ENSP00000437185:K481E;ENSP00000354526:K506E;ENSP00000357121:K481E;ENSP00000436706:K481E;ENSP00000357118:K506E	ENSP00000354526:K506E	K	+	1	0	L3MBTL3	130449086	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.120000	0.89581	2.044000	0.60594	0.455000	0.32223	AAA	L3MBTL3	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000198945		0.373	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	284	0.00	0	A	XM_027074		130407393	130407393	+1	no_errors	ENST00000361794	ensembl	human	known	69_37n	missense	136	41.70	98	SNP	1.000	G
MAGI1	9223	genome.wustl.edu	37	3	65346921	65346921	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:65346921C>T	ENST00000497477.2	-	21	3385	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MAGI1_ENST00000330909.8_Missense_Mutation_p.R1224K|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1225K|MAGI1_ENST00000402939.2_Missense_Mutation_p.R1196K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1225	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGACGAACTCTGCGGCCACC	0.443																																						dbGAP											0													141.0	130.0	134.0					3																	65346921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3386G>A	3.37:g.65346921C>T	ENSP00000424369:p.Arg1129Lys		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1196K	ENST00000497477.2	37	c.3587		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.83|11.83	1.756396|1.756396	0.31137|0.31137	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.047700	.|0.85682	.|D	.|0.000000	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02665|0.02665	-0.54|-0.54	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;B;B	.|0.13594	.|0.002;0.002;0.008;0.004	.|B;B;B;B	.|0.22601	.|0.04;0.004;0.018;0.011	T|T	0.28586|0.28586	-1.0039|-1.0039	5|10	.|0.12430	.|T	.|0.62	-26.8987|-26.8987	12.7298|12.7298	0.57191|0.57191	0.0:0.8829:0.0:0.1171|0.0:0.8829:0.0:0.1171	.|.	.|1129;1225;1196;1224	.|Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.	K|K	1105|1196;1224;1120;1100;1225;1129;983	.|ENSP00000385450:R1196K;ENSP00000331157:R1224K;ENSP00000418177:R1100K;ENSP00000420323:R1225K;ENSP00000424369:R1129K;ENSP00000420796:R983K	.|ENSP00000331157:R1224K	E|R	-|-	1|2	0|0	MAGI1|MAGI1	65321961|65321961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.065000|4.065000	0.57513|0.57513	2.717000|2.717000	0.92951|0.92951	0.650000|0.650000	0.86243|0.86243	GAG|AGA	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	271	0.37	1	C	NM_004742		65346921	65346921	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	126	50.59	129	SNP	1.000	T
MAGI1	9223	genome.wustl.edu	37	3	65346921	65346921	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:65346921C>T	ENST00000497477.2	-	21	3385	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MAGI1_ENST00000330909.8_Missense_Mutation_p.R1224K|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000483466.1_Missense_Mutation_p.R1225K|MAGI1_ENST00000402939.2_Missense_Mutation_p.R1196K			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1225	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAGACGAACTCTGCGGCCACC	0.443																																						dbGAP											0													141.0	130.0	134.0					3																	65346921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3386G>A	3.37:g.65346921C>T	ENSP00000424369:p.Arg1129Lys		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.R1196K	ENST00000497477.2	37	c.3587		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.83|11.83	1.756396|1.756396	0.31137|0.31137	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92;1.92	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.047700	.|0.85682	.|D	.|0.000000	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.02665|0.02665	-0.54|-0.54	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;B;B	.|0.13594	.|0.002;0.002;0.008;0.004	.|B;B;B;B	.|0.22601	.|0.04;0.004;0.018;0.011	T|T	0.28586|0.28586	-1.0039|-1.0039	5|10	.|0.12430	.|T	.|0.62	-26.8987|-26.8987	12.7298|12.7298	0.57191|0.57191	0.0:0.8829:0.0:0.1171|0.0:0.8829:0.0:0.1171	.|.	.|1129;1225;1196;1224	.|Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.	K|K	1105|1196;1224;1120;1100;1225;1129;983	.|ENSP00000385450:R1196K;ENSP00000331157:R1224K;ENSP00000418177:R1100K;ENSP00000420323:R1225K;ENSP00000424369:R1129K;ENSP00000420796:R983K	.|ENSP00000331157:R1224K	E|R	-|-	1|2	0|0	MAGI1|MAGI1	65321961|65321961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.065000|4.065000	0.57513|0.57513	2.717000|2.717000	0.92951|0.92951	0.650000|0.650000	0.86243|0.86243	GAG|AGA	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	277	0.00	0	C	NM_004742		65346921	65346921	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	126	50.59	129	SNP	1.000	T
MAZ	4150	genome.wustl.edu	37	16	29821425	29821425	+	Missense_Mutation	SNP	C	C	T	rs530039776|rs370462022	byFrequency	TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr16:29821425C>T	ENST00000322945.6	+	5	1472	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000567659.1_5'Flank|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.A131V|MAZ_ENST00000568544.1_Missense_Mutation_p.A37V|PRRT2_ENST00000300797.6_5'Flank|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.A413V	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAATggcggcggcagcggca	0.667																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													23.0	29.0	27.0					16																	29821425		2127	4221	6348	-	-	-	SO:0001583	missense	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1307C>T	16.37:g.29821425C>T	ENSP00000313362:p.Ala436Val		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A436V	ENST00000322945.6	37	c.1307	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485146	0.26598	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.10288	2.96;2.89	3.89	3.89	0.44902	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	P;D;P	0.76494	0.663;0.999;0.663	B;D;B	0.71184	0.082;0.972;0.082	T	0.29731	-1.0002	9	0.26408	T	0.33	.	11.5853	0.50914	0.0:1.0:0.0:0.0	.	413;211;436	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	V	413;436;211	ENSP00000443956:A413V;ENSP00000313362:A436V	ENSP00000313362:A436V	A	+	2	0	MAZ	29728926	0.306000	0.24490	0.877000	0.34402	0.127000	0.20565	0.972000	0.29409	2.189000	0.69895	0.455000	0.32223	GCG	MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	9	0.00	0	C	NM_002383		29821425	29821425	+1	no_errors	ENST00000322945	ensembl	human	known	69_37n	missense	19	58.97	46	SNP	0.930	T
MAZ	4150	genome.wustl.edu	37	16	29821425	29821425	+	Missense_Mutation	SNP	C	C	T	rs530039776|rs370462022	byFrequency	TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr16:29821425C>T	ENST00000322945.6	+	5	1472	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V	AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000567659.1_5'Flank|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.A131V|MAZ_ENST00000568544.1_Missense_Mutation_p.A37V|PRRT2_ENST00000300797.6_5'Flank|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.A413V	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CCAATggcggcggcagcggca	0.667																																					Colon(72;875 1167 15364 30899 37091)	dbGAP											0													23.0	29.0	27.0					16																	29821425		2127	4221	6348	-	-	-	SO:0001583	missense	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1307C>T	16.37:g.29821425C>T	ENSP00000313362:p.Ala436Val		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A436V	ENST00000322945.6	37	c.1307	CCDS42143.1	16	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485146	0.26598	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.10288	2.96;2.89	3.89	3.89	0.44902	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.80722	D	1	P;D;P	0.76494	0.663;0.999;0.663	B;D;B	0.71184	0.082;0.972;0.082	T	0.29731	-1.0002	9	0.26408	T	0.33	.	11.5853	0.50914	0.0:1.0:0.0:0.0	.	413;211;436	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	V	413;436;211	ENSP00000443956:A413V;ENSP00000313362:A436V	ENSP00000313362:A436V	A	+	2	0	MAZ	29728926	0.306000	0.24490	0.877000	0.34402	0.127000	0.20565	0.972000	0.29409	2.189000	0.69895	0.455000	0.32223	GCG	MAZ	-	NULL	ENSG00000103495		0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	MAZ	HGNC	protein_coding	OTTHUMT00000435536.1	23	0.00	0	C	NM_002383		29821425	29821425	+1	no_errors	ENST00000322945	ensembl	human	known	69_37n	missense	19	58.97	46	SNP	0.930	T
MBD1	4152	genome.wustl.edu	37	18	47802228	47802228	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr18:47802228G>A	ENST00000591416.1	-	7	1071	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R214C|MBD1_ENST00000436910.1_Missense_Mutation_p.R214C|MBD1_ENST00000424334.2_Missense_Mutation_p.R240C|MBD1_ENST00000398493.1_Missense_Mutation_p.R214C|MBD1_ENST00000590208.1_Missense_Mutation_p.R214C|MBD1_ENST00000588937.1_Missense_Mutation_p.R214C|MBD1_ENST00000349085.2_Missense_Mutation_p.R214C|MBD1_ENST00000339998.6_Missense_Mutation_p.R214C|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.R214C|MBD1_ENST00000398488.1_Missense_Mutation_p.R214C|MBD1_ENST00000269471.5_Missense_Mutation_p.R214C|MBD1_ENST00000457839.2_Missense_Mutation_p.R214C|MBD1_ENST00000398495.2_Missense_Mutation_p.R214C|MBD1_ENST00000382948.5_Missense_Mutation_p.R214C|MBD1_ENST00000587605.1_Missense_Mutation_p.R214C|MBD1_ENST00000269468.5_Missense_Mutation_p.R214C|MBD1_ENST00000347968.3_Missense_Mutation_p.R214C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	214					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CGGAGGCAGCGTCTCCGTTCA	0.627																																						dbGAP											0													108.0	97.0	101.0					18																	47802228		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.640C>T	18.37:g.47802228G>A	ENSP00000467017:p.Arg214Cys		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R240C	ENST00000591416.1	37	c.718	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412537	0.62511	.	.	ENSG00000141644	ENST00000382948;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-4.07;-3.96;-4.07;-3.97;-4.01;-4.0;-4.07;-4.04;-4.01;-4.04;-3.97;-3.96	4.53	3.58	0.41010	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000059	D	0.96815	0.8960	L	0.52573	1.65	0.41643	D	0.989085	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.998;0.997;0.997;0.995;0.998;0.999	D	0.96490	0.9363	10	0.87932	D	0	-16.9469	11.8121	0.52189	0.0:0.0:0.8244:0.1756	.	214;240;214;214;214;214;214;214;214	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-4;Q9UIS9;Q9UIS9-7	.;.;.;.;.;.;.;MBD1_HUMAN;.	C	214;214;214;214;214;214;240;214;214;214;214;214	ENSP00000372407:R214C;ENSP00000342531:R214C;ENSP00000269468:R214C;ENSP00000285102:R214C;ENSP00000409561:R214C;ENSP00000269471:R214C;ENSP00000408846:R240C;ENSP00000339546:R214C;ENSP00000381508:R214C;ENSP00000405268:R214C;ENSP00000381506:R214C;ENSP00000381502:R214C	ENSP00000269468:R214C	R	-	1	0	MBD1	46056226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.051000	0.49885	2.499000	0.84300	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	100	0.00	0	G	NM_015846		47802228	47802228	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	missense	104	35.80	58	SNP	1.000	A
MBD1	4152	genome.wustl.edu	37	18	47802228	47802228	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr18:47802228G>A	ENST00000591416.1	-	7	1071	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R214C|MBD1_ENST00000436910.1_Missense_Mutation_p.R214C|MBD1_ENST00000424334.2_Missense_Mutation_p.R240C|MBD1_ENST00000398493.1_Missense_Mutation_p.R214C|MBD1_ENST00000590208.1_Missense_Mutation_p.R214C|MBD1_ENST00000588937.1_Missense_Mutation_p.R214C|MBD1_ENST00000349085.2_Missense_Mutation_p.R214C|MBD1_ENST00000339998.6_Missense_Mutation_p.R214C|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Missense_Mutation_p.R214C|MBD1_ENST00000398488.1_Missense_Mutation_p.R214C|MBD1_ENST00000269471.5_Missense_Mutation_p.R214C|MBD1_ENST00000457839.2_Missense_Mutation_p.R214C|MBD1_ENST00000398495.2_Missense_Mutation_p.R214C|MBD1_ENST00000382948.5_Missense_Mutation_p.R214C|MBD1_ENST00000587605.1_Missense_Mutation_p.R214C|MBD1_ENST00000269468.5_Missense_Mutation_p.R214C|MBD1_ENST00000347968.3_Missense_Mutation_p.R214C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	214					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CGGAGGCAGCGTCTCCGTTCA	0.627																																						dbGAP											0													108.0	97.0	101.0					18																	47802228		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.640C>T	18.37:g.47802228G>A	ENSP00000467017:p.Arg214Cys		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.R240C	ENST00000591416.1	37	c.718	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412537	0.62511	.	.	ENSG00000141644	ENST00000382948;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-4.07;-3.96;-4.07;-3.97;-4.01;-4.0;-4.07;-4.04;-4.01;-4.04;-3.97;-3.96	4.53	3.58	0.41010	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000059	D	0.96815	0.8960	L	0.52573	1.65	0.41643	D	0.989085	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.996;0.998;0.997;0.997;0.995;0.998;0.999	D	0.96490	0.9363	10	0.87932	D	0	-16.9469	11.8121	0.52189	0.0:0.0:0.8244:0.1756	.	214;240;214;214;214;214;214;214;214	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-4;Q9UIS9;Q9UIS9-7	.;.;.;.;.;.;.;MBD1_HUMAN;.	C	214;214;214;214;214;214;240;214;214;214;214;214	ENSP00000372407:R214C;ENSP00000342531:R214C;ENSP00000269468:R214C;ENSP00000285102:R214C;ENSP00000409561:R214C;ENSP00000269471:R214C;ENSP00000408846:R240C;ENSP00000339546:R214C;ENSP00000381508:R214C;ENSP00000405268:R214C;ENSP00000381506:R214C;ENSP00000381502:R214C	ENSP00000269468:R214C	R	-	1	0	MBD1	46056226	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.051000	0.49885	2.499000	0.84300	0.655000	0.94253	CGC	MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.627	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	184	0.00	0	G	NM_015846		47802228	47802228	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	missense	104	35.80	58	SNP	1.000	A
MLIP	90523	genome.wustl.edu	37	6	53883886	53883886	+	Silent	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr6:53883886G>T	ENST00000274897.5	+	1	173	c.60G>T	c.(58-60)ctG>ctT	p.L20L	MLIP_ENST00000509997.1_Silent_p.L20L|MLIP_ENST00000370877.2_Silent_p.L20L|MLIP_ENST00000514921.1_Silent_p.L20L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	20	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGAGAAACTGACGGTAAGAC	0.378																																						dbGAP											0													72.0	75.0	74.0					6																	53883886		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.60G>T	6.37:g.53883886G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.L20	ENST00000274897.5	37	c.60	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.378	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	320	0.62	2	G	NM_138569		53883886	53883886	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	90	41.18	63	SNP	0.793	T
MLIP	90523	genome.wustl.edu	37	6	53883886	53883886	+	Silent	SNP	G	G	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr6:53883886G>T	ENST00000274897.5	+	1	173	c.60G>T	c.(58-60)ctG>ctT	p.L20L	MLIP_ENST00000509997.1_Silent_p.L20L|MLIP_ENST00000370877.2_Silent_p.L20L|MLIP_ENST00000514921.1_Silent_p.L20L	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	20	Interaction with LMNA.					nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGAGAAACTGACGGTAAGAC	0.378																																						dbGAP											0													72.0	75.0	74.0					6																	53883886		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.60G>T	6.37:g.53883886G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.L20	ENST00000274897.5	37	c.60	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.378	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	200	0.00	0	G	NM_138569		53883886	53883886	+1	no_errors	ENST00000274897	ensembl	human	known	69_37n	silent	90	41.18	63	SNP	0.793	T
MUC12	10071	genome.wustl.edu	37	7	100641723	100641723	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr7:100641723C>T	ENST00000379442.3	+	5	8308	c.8308C>T	c.(8308-8310)Cgt>Tgt	p.R2770C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2627C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2770	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACCTCAGGTCGTGGAGAATC	0.517																																						dbGAP											0													1.0	1.0	1.0					7																	100641723		165	441	606	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8308C>T	7.37:g.100641723C>T	ENSP00000368755:p.Arg2770Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2770C	ENST00000379442.3	37	c.8308		7	.	.	.	.	.	.	.	.	.	.	c	4.916	0.170193	0.09339	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.646	-0.671	0.11381	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36359	-0.9751	6	0.56958	D	0.05	.	.	.	.	.	.	.	.	C	2770;2627	ENSP00000368755:R2770C;ENSP00000441929:R2627C	ENSP00000368755:R2770C	R	+	1	0	MUC12	100428443	0.002000	0.14202	0.000000	0.03702	0.072000	0.16883	1.093000	0.30939	-0.233000	0.09797	0.089000	0.15464	CGT	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	79	0.00	0	C	XM_379904		100641723	100641723	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.000	T
MUC12	10071	genome.wustl.edu	37	7	100641723	100641723	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr7:100641723C>T	ENST00000379442.3	+	5	8308	c.8308C>T	c.(8308-8310)Cgt>Tgt	p.R2770C	MUC12_ENST00000536621.1_Missense_Mutation_p.R2627C			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2770	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACCTCAGGTCGTGGAGAATC	0.517																																						dbGAP											0													1.0	1.0	1.0					7																	100641723		165	441	606	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8308C>T	7.37:g.100641723C>T	ENSP00000368755:p.Arg2770Cys		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R2770C	ENST00000379442.3	37	c.8308		7	.	.	.	.	.	.	.	.	.	.	c	4.916	0.170193	0.09339	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13901	2.55;2.55	0.646	-0.671	0.11381	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.36359	-0.9751	6	0.56958	D	0.05	.	.	.	.	.	.	.	.	C	2770;2627	ENSP00000368755:R2770C;ENSP00000441929:R2627C	ENSP00000368755:R2770C	R	+	1	0	MUC12	100428443	0.002000	0.14202	0.000000	0.03702	0.072000	0.16883	1.093000	0.30939	-0.233000	0.09797	0.089000	0.15464	CGT	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	108	0.00	0	C	XM_379904		100641723	100641723	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.000	T
MYH10	4628	genome.wustl.edu	37	17	8415888	8415888	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr17:8415888C>G	ENST00000269243.4	-	22	2878	c.2740G>C	c.(2740-2742)Gct>Cct	p.A914P	MYH10_ENST00000360416.3_Missense_Mutation_p.A945P|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.A930P|MYH10_ENST00000396239.1_Missense_Mutation_p.A935P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	914					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTTAGCAGCAAGTCTTGCC	0.388																																						dbGAP											0													100.0	93.0	95.0					17																	8415888		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2740G>C	17.37:g.8415888C>G	ENSP00000269243:p.Ala914Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A935P	ENST00000269243.4	37	c.2803	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575396	0.86645	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.46	5.46	0.80206	.	0.118512	0.56097	D	0.000027	D	0.86372	0.5917	M	0.85945	2.785	0.41063	D	0.985397	P;P;P	0.44690	0.712;0.81;0.841	P;P;P	0.55455	0.602;0.776;0.677	D	0.87821	0.2638	10	0.87932	D	0	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	923;945;914	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	914;945;935;930	ENSP00000269243:A914P;ENSP00000353590:A945P;ENSP00000379539:A935P;ENSP00000369315:A930P	ENSP00000269243:A914P	A	-	1	0	MYH10	8356613	0.994000	0.37717	0.997000	0.53966	0.998000	0.95712	3.269000	0.51592	2.840000	0.97914	0.655000	0.94253	GCT	MYH10	-	NULL	ENSG00000133026		0.388	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	240	0.00	0	C			8415888	8415888	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	98	43.02	74	SNP	1.000	G
MYH10	4628	genome.wustl.edu	37	17	8415888	8415888	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:8415888C>G	ENST00000269243.4	-	22	2878	c.2740G>C	c.(2740-2742)Gct>Cct	p.A914P	MYH10_ENST00000360416.3_Missense_Mutation_p.A945P|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.A930P|MYH10_ENST00000396239.1_Missense_Mutation_p.A935P	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	914					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTTAGCAGCAAGTCTTGCC	0.388																																						dbGAP											0													100.0	93.0	95.0					17																	8415888		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2740G>C	17.37:g.8415888C>G	ENSP00000269243:p.Ala914Pro		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A935P	ENST00000269243.4	37	c.2803	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575396	0.86645	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	5.46	5.46	0.80206	.	0.118512	0.56097	D	0.000027	D	0.86372	0.5917	M	0.85945	2.785	0.41063	D	0.985397	P;P;P	0.44690	0.712;0.81;0.841	P;P;P	0.55455	0.602;0.776;0.677	D	0.87821	0.2638	10	0.87932	D	0	.	19.5125	0.95148	0.0:1.0:0.0:0.0	.	923;945;914	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	P	914;945;935;930	ENSP00000269243:A914P;ENSP00000353590:A945P;ENSP00000379539:A935P;ENSP00000369315:A930P	ENSP00000269243:A914P	A	-	1	0	MYH10	8356613	0.994000	0.37717	0.997000	0.53966	0.998000	0.95712	3.269000	0.51592	2.840000	0.97914	0.655000	0.94253	GCT	MYH10	-	NULL	ENSG00000133026		0.388	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	205	0.00	0	C			8415888	8415888	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	98	43.02	74	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10304870	10304870	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr17:10304870G>C	ENST00000403437.2	-	23	3015	c.2921C>G	c.(2920-2922)aCg>aGg	p.T974R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	974					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.T974M(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGTTCTCCGTGGCATGTTT	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											1	Substitution - Missense(1)	kidney(1)											276.0	263.0	267.0					17																	10304870		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2921C>G	17.37:g.10304870G>C	ENSP00000384330:p.Thr974Arg		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T974R	ENST00000403437.2	37	c.2921	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870968	0.72065	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86769	-2.17	5.41	5.41	0.78517	.	0.000000	0.42964	U	0.000639	D	0.91643	0.7359	M	0.75447	2.3	0.80722	D	1	D	0.56035	0.974	P	0.54312	0.748	D	0.91711	0.5381	10	0.56958	D	0.05	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	974	P13535	MYH8_HUMAN	R	974	ENSP00000384330:T974R	ENSP00000252173:T974R	T	-	2	0	MYH8	10245595	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.754000	0.85163	2.826000	0.97356	0.655000	0.94253	ACG	MYH8	-	NULL	ENSG00000133020		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	856	0.12	1	G	NM_002472		10304870	10304870	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	345	48.96	331	SNP	1.000	C
MYH8	4626	genome.wustl.edu	37	17	10304870	10304870	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr17:10304870G>C	ENST00000403437.2	-	23	3015	c.2921C>G	c.(2920-2922)aCg>aGg	p.T974R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	974					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.T974M(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGTTCTCCGTGGCATGTTT	0.393									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											1	Substitution - Missense(1)	kidney(1)											276.0	263.0	267.0					17																	10304870		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2921C>G	17.37:g.10304870G>C	ENSP00000384330:p.Thr974Arg		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T974R	ENST00000403437.2	37	c.2921	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870968	0.72065	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86769	-2.17	5.41	5.41	0.78517	.	0.000000	0.42964	U	0.000639	D	0.91643	0.7359	M	0.75447	2.3	0.80722	D	1	D	0.56035	0.974	P	0.54312	0.748	D	0.91711	0.5381	10	0.56958	D	0.05	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	974	P13535	MYH8_HUMAN	R	974	ENSP00000384330:T974R	ENSP00000252173:T974R	T	-	2	0	MYH8	10245595	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.754000	0.85163	2.826000	0.97356	0.655000	0.94253	ACG	MYH8	-	NULL	ENSG00000133020		0.393	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	740	0.00	0	G	NM_002472		10304870	10304870	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	345	48.96	331	SNP	1.000	C
NAALADL2	254827	genome.wustl.edu	37	3	175189546	175189546	+	Splice_Site	SNP	G	G	T	rs560066521		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:175189546G>T	ENST00000454872.1	+	9	1781	c.1653G>T	c.(1651-1653)gaG>gaT	p.E551D	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	551						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGGTAGTAGAGGTAAGACAAA	0.353																																						dbGAP											0													66.0	60.0	62.0					3																	175189546		1871	4103	5974	-	-	-	SO:0001630	splice_region_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1653+1G>T	3.37:g.175189546G>T			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E551D	ENST00000454872.1	37	c.1653	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830459	0.50845	.	.	ENSG00000177694	ENST00000454872	T	0.39997	1.05	5.36	5.36	0.76844	Peptidase M28 (1);	0.372017	0.24467	N	0.038264	T	0.55194	0.1905	L	0.46670	1.46	0.28893	N	0.893736	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.31617	T	0.26	-13.8109	12.7749	0.57441	0.0755:0.0:0.9245:0.0	.	551	Q58DX5	NADL2_HUMAN	D	551	ENSP00000404705:E551D	ENSP00000404705:E551D	E	+	3	2	NAALADL2	176672240	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.677000	0.54619	2.668000	0.90789	0.460000	0.39030	GAG	NAALADL2	-	NULL	ENSG00000177694		0.353	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	225	0.44	1	G	NM_207015	Missense_Mutation	175189546	175189546	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	69	41.03	48	SNP	1.000	T
NAALADL2	254827	genome.wustl.edu	37	3	175189546	175189546	+	Splice_Site	SNP	G	G	T	rs560066521		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:175189546G>T	ENST00000454872.1	+	9	1781	c.1653G>T	c.(1651-1653)gaG>gaT	p.E551D	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	551						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGGTAGTAGAGGTAAGACAAA	0.353																																						dbGAP											0													66.0	60.0	62.0					3																	175189546		1871	4103	5974	-	-	-	SO:0001630	splice_region_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1653+1G>T	3.37:g.175189546G>T			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.E551D	ENST00000454872.1	37	c.1653	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830459	0.50845	.	.	ENSG00000177694	ENST00000454872	T	0.39997	1.05	5.36	5.36	0.76844	Peptidase M28 (1);	0.372017	0.24467	N	0.038264	T	0.55194	0.1905	L	0.46670	1.46	0.28893	N	0.893736	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.31617	T	0.26	-13.8109	12.7749	0.57441	0.0755:0.0:0.9245:0.0	.	551	Q58DX5	NADL2_HUMAN	D	551	ENSP00000404705:E551D	ENSP00000404705:E551D	E	+	3	2	NAALADL2	176672240	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	3.677000	0.54619	2.668000	0.90789	0.460000	0.39030	GAG	NAALADL2	-	NULL	ENSG00000177694		0.353	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	138	0.00	0	G	NM_207015	Missense_Mutation	175189546	175189546	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	69	41.03	48	SNP	1.000	T
NFATC4	4776	genome.wustl.edu	37	14	24845738	24845738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr14:24845738delC	ENST00000250373.4	+	9	2436	c.2295delC	c.(2293-2295)ttcfs	p.F765fs	NFATC4_ENST00000553469.1_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000556279.1_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000554966.1_Frame_Shift_Del_p.F778fs|NFATC4_ENST00000554591.1_Frame_Shift_Del_p.F828fs|NFATC4_ENST00000555453.1_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000554661.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000554344.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000557451.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000554473.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000422617.3_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000555802.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000556169.1_Frame_Shift_Del_p.F753fs|NFATC4_ENST00000539237.2_Frame_Shift_Del_p.F797fs|NFATC4_ENST00000554050.1_Frame_Shift_Del_p.F765fs|NFATC4_ENST00000556759.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000555167.1_Frame_Shift_Del_p.F300fs|NFATC4_ENST00000555393.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000553708.1_Frame_Shift_Del_p.F765fs|NFATC4_ENST00000424781.2_Frame_Shift_Del_p.F778fs|NFATC4_ENST00000413692.2_Frame_Shift_Del_p.F828fs|NFATC4_ENST00000557767.1_Frame_Shift_Del_p.F53fs|NFATC4_ENST00000553879.1_Frame_Shift_Del_p.F695fs|NFATC4_ENST00000555590.1_Frame_Shift_Del_p.F778fs	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	765	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGCGGATGTTCCCTGAGACTA	0.622																																						dbGAP											0													48.0	52.0	51.0					14																	24845738		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2295delC	14.37:g.24845738delC	ENSP00000250373:p.Phe765fs		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.P829fs	ENST00000250373.4	37	c.2484	CCDS9629.1	14																																																																																			NFATC4	-	NULL	ENSG00000100968		0.622	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	98	0.00	0	C	NM_004554		24845738	24845738	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	frame_shift_del	53	33.33	27	DEL	1.000	-
NUP155	9631	genome.wustl.edu	37	5	37349297	37349298	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr5:37349297_37349298delGT	ENST00000231498.3	-	8	1082_1083	c.879_880delAC	c.(877-882)acacgafs	p.R294fs	NUP155_ENST00000381843.2_Frame_Shift_Del_p.R235fs|NUP155_ENST00000513532.1_Frame_Shift_Del_p.R294fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	294					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCAGATCGTGTATATAAAA	0.252																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.879_880delAC	5.37:g.37349299_37349300delGT	ENSP00000231498:p.Arg294fs		Q9UBE9|Q9UFL5	Frame_Shift_Del	DEL	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.R294fs	ENST00000231498.3	37	c.880_879	CCDS3921.1	5																																																																																			NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	ENSG00000113569		0.252	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	90	0.00	0	GT	NM_153485, NM_004298		37349297	37349298	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000:0.972	-
OR51E2	81285	genome.wustl.edu	37	11	4703745	4703745	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr11:4703745G>C	ENST00000396950.3	-	2	436	c.197C>G	c.(196-198)gCa>gGa	p.A66G		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	66					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTCAATGGCTGCAAGCATGCA	0.502																																						dbGAP											0													110.0	91.0	98.0					11																	4703745		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.197C>G	11.37:g.4703745G>C	ENSP00000380153:p.Ala66Gly		B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A66G	ENST00000396950.3	37	c.197	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844887	0.71603	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.03124	4.04;4.04	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000305	T	0.10852	0.0265	M	0.85945	2.785	0.38521	D	0.94873	P	0.43231	0.801	B	0.42062	0.374	T	0.02698	-1.1122	10	0.66056	D	0.02	.	17.0368	0.86478	0.0:0.0:1.0:0.0	.	66	Q9H255	O51E2_HUMAN	G	66	ENSP00000380153:A66G;ENSP00000432644:A66G	ENSP00000380153:A66G	A	-	2	0	OR51E2	4660321	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.066000	0.64351	2.613000	0.88420	0.655000	0.94253	GCA	OR51E2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000167332		0.502	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1	132	0.00	0	G	NM_030774		4703745	4703745	-1	no_errors	ENST00000396950	ensembl	human	known	69_37n	missense	65	52.52	73	SNP	0.998	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	203	0.49	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	99	51.23	104	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	158	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	99	51.23	104	SNP	1.000	G
PIK3R3	8503	genome.wustl.edu	37	1	46512262	46512262	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:46512262A>C	ENST00000262741.5	-	8	1666	c.977T>G	c.(976-978)cTg>cGg	p.L326R	PIK3R3_ENST00000354242.4_Missense_Mutation_p.L267R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L326R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.L372R|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.L231R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L267R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L326R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	326					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCAGACATTCAGGCGTTTCTG	0.443																																						dbGAP											0													178.0	168.0	171.0					1																	46512262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.977T>G	1.37:g.46512262A>C	ENSP00000262741:p.Leu326Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L372R	ENST00000262741.5	37	c.1115	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274740	0.59649	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.86297	1.44;1.44;1.44;-1.49;-2.1;1.44;-1.49	5.1	5.1	0.69264	.	0.175293	0.46758	D	0.000270	D	0.85965	0.5820	L	0.40543	1.245	0.29382	N	0.863246	B;B;B;B	0.32862	0.387;0.099;0.004;0.019	B;B;B;B	0.41723	0.365;0.145;0.017;0.024	D	0.84845	0.0810	10	0.87932	D	0	-8.2857	15.3632	0.74499	1.0:0.0:0.0:0.0	.	372;359;267;326	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	326;326;326;267;231;372;267	ENSP00000361075:L326R;ENSP00000262741:L326R;ENSP00000412546:L326R;ENSP00000346188:L267R;ENSP00000342484:L231R;ENSP00000439913:L372R;ENSP00000391431:L267R	ENSP00000262741:L326R	L	-	2	0	PIK3R3	46284849	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	CTG	PIK3R3	-	prints_PI3kinase_P85	ENSG00000117461		0.443	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	351	0.85	3	A	NM_003629		46512262	46512262	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	missense	173	48.05	160	SNP	1.000	C
PIK3R3	8503	genome.wustl.edu	37	1	46512262	46512262	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:46512262A>C	ENST00000262741.5	-	8	1666	c.977T>G	c.(976-978)cTg>cGg	p.L326R	PIK3R3_ENST00000354242.4_Missense_Mutation_p.L267R|PIK3R3_ENST00000372006.1_Missense_Mutation_p.L326R|PIK3R3_ENST00000540385.1_Missense_Mutation_p.L372R|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.L231R|PIK3R3_ENST00000423209.1_Missense_Mutation_p.L267R|PIK3R3_ENST00000420542.1_Missense_Mutation_p.L326R	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	326					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CCAGACATTCAGGCGTTTCTG	0.443																																						dbGAP											0													178.0	168.0	171.0					1																	46512262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.977T>G	1.37:g.46512262A>C	ENSP00000262741:p.Leu326Arg		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.L372R	ENST00000262741.5	37	c.1115	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274740	0.59649	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.86297	1.44;1.44;1.44;-1.49;-2.1;1.44;-1.49	5.1	5.1	0.69264	.	0.175293	0.46758	D	0.000270	D	0.85965	0.5820	L	0.40543	1.245	0.29382	N	0.863246	B;B;B;B	0.32862	0.387;0.099;0.004;0.019	B;B;B;B	0.41723	0.365;0.145;0.017;0.024	D	0.84845	0.0810	10	0.87932	D	0	-8.2857	15.3632	0.74499	1.0:0.0:0.0:0.0	.	372;359;267;326	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	R	326;326;326;267;231;372;267	ENSP00000361075:L326R;ENSP00000262741:L326R;ENSP00000412546:L326R;ENSP00000346188:L267R;ENSP00000342484:L231R;ENSP00000439913:L372R;ENSP00000391431:L267R	ENSP00000262741:L326R	L	-	2	0	PIK3R3	46284849	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.139000	0.94554	2.279000	0.76181	0.533000	0.62120	CTG	PIK3R3	-	prints_PI3kinase_P85	ENSG00000117461		0.443	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	299	0.00	0	A	NM_003629		46512262	46512262	-1	no_errors	ENST00000540385	ensembl	human	known	69_37n	missense	173	48.05	160	SNP	1.000	C
PIWIL2	55124	genome.wustl.edu	37	8	22146119	22146120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr8:22146119_22146120insA	ENST00000454009.2	+	8	1435_1436	c.926_927insA	c.(925-930)acaaagfs	p.TK309fs	PIWIL2_ENST00000521356.1_Frame_Shift_Ins_p.TK309fs|PIWIL2_ENST00000356766.6_Frame_Shift_Ins_p.TK309fs	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	309					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTCAGATGACAAAGATCCTGG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.929dupA	8.37:g.22146122_22146122dupA	ENSP00000406956:p.Thr309fs		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I311fs	ENST00000454009.2	37	c.926_927	CCDS6029.1	8																																																																																			PIWIL2	-	superfamily_PAZ	ENSG00000197181		0.391	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	300	0.66	2	-			22146119	22146120	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	frame_shift_ins	28	77.05	94	INS	1.000:0.988	A
PIWIL2	55124	genome.wustl.edu	37	8	22146119	22146120	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr8:22146119_22146120insA	ENST00000454009.2	+	8	1435_1436	c.926_927insA	c.(925-930)acaaagfs	p.TK309fs	PIWIL2_ENST00000521356.1_Frame_Shift_Ins_p.TK309fs|PIWIL2_ENST00000356766.6_Frame_Shift_Ins_p.TK309fs	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	309					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTCAGATGACAAAGATCCTGG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.929dupA	8.37:g.22146122_22146122dupA	ENSP00000406956:p.Thr309fs		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Frame_Shift_Ins	INS	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.I311fs	ENST00000454009.2	37	c.926_927	CCDS6029.1	8																																																																																			PIWIL2	-	superfamily_PAZ	ENSG00000197181		0.391	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	264	0.00	0	-			22146119	22146120	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	frame_shift_ins	28	77.05	94	INS	1.000:0.988	A
PAK2	5062	genome.wustl.edu	37	3	196511870	196511870	+	Intron	SNP	C	C	T	rs10440165	byFrequency	TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:196511870C>T	ENST00000327134.3	+	2	509				RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		gaacgcttcacgaatttgcgt	0.398													-|||	2618	0.522764	0.3835	0.6196	5008	,	,		22363	0.6528		0.5417	False		,,,				2504	0.4888					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.187+2166C>T	3.37:g.196511870C>T			Q13154|Q6ISC3	RNA	SNP	-	NULL	ENST00000327134.3	37	NULL	CCDS3321.1	3																																																																																			RNU6-42	-	-	ENSG00000206892		0.398	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU6-42	HGNC	protein_coding	OTTHUMT00000340548.1	10	0.00	0	C	NM_002577		196511870	196511870	-1	no_errors	ENST00000384165	ensembl	human	known	69_37n	rna	16	27.27	6	SNP	0.000	T
SEZ6L2	26470	genome.wustl.edu	37	16	29884037	29884037	+	Intron	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr16:29884037C>T	ENST00000308713.5	-	15	3016				SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R795Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R769Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R725Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTTTTCGGTTGTCCAG	0.672																																						dbGAP											0													48.0	42.0	44.0					16																	29884037		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2489-190G>A	16.37:g.29884037C>T			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R795Q	ENST00000308713.5	37	c.2384	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792262	0.70452	.	.	ENSG00000174938	ENST00000350527;ENST00000346932;ENST00000537485	T;T;T	0.30714	1.56;1.52;1.52	5.4	5.4	0.78164	.	.	.	.	.	T	0.34048	0.0884	M	0.63843	1.955	0.29496	N	0.855267	P;P;P;P	0.50443	0.762;0.892;0.892;0.935	B;B;B;B	0.39217	0.294;0.113;0.113;0.226	T	0.38394	-0.9663	9	0.41790	T	0.15	.	17.9387	0.89020	0.0:1.0:0.0:0.0	.	795;839;725;769	F5H293;B7Z5L4;Q9BW82;Q6UXD5-3	.;.;.;.	Q	769;725;795	ENSP00000310206:R769Q;ENSP00000319215:R725Q;ENSP00000439412:R795Q	ENSP00000319215:R725Q	R	-	2	0	SEZ6L2	29791538	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.566000	0.36396	2.518000	0.84900	0.655000	0.94253	CGA	SEZ6L2	-	NULL	ENSG00000174938		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	76	0.00	0	C	NM_012410		29884037	29884037	-1	no_errors	ENST00000537485	ensembl	human	known	69_37n	missense	217	18.42	49	SNP	1.000	T
SEZ6L2	26470	genome.wustl.edu	37	16	29884037	29884037	+	Intron	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr16:29884037C>T	ENST00000308713.5	-	15	3016				SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R795Q|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R769Q|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R725Q	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTTTTCGGTTGTCCAG	0.672																																						dbGAP											0													48.0	42.0	44.0					16																	29884037		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2489-190G>A	16.37:g.29884037C>T			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R795Q	ENST00000308713.5	37	c.2384	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792262	0.70452	.	.	ENSG00000174938	ENST00000350527;ENST00000346932;ENST00000537485	T;T;T	0.30714	1.56;1.52;1.52	5.4	5.4	0.78164	.	.	.	.	.	T	0.34048	0.0884	M	0.63843	1.955	0.29496	N	0.855267	P;P;P;P	0.50443	0.762;0.892;0.892;0.935	B;B;B;B	0.39217	0.294;0.113;0.113;0.226	T	0.38394	-0.9663	9	0.41790	T	0.15	.	17.9387	0.89020	0.0:1.0:0.0:0.0	.	795;839;725;769	F5H293;B7Z5L4;Q9BW82;Q6UXD5-3	.;.;.;.	Q	769;725;795	ENSP00000310206:R769Q;ENSP00000319215:R725Q;ENSP00000439412:R795Q	ENSP00000319215:R725Q	R	-	2	0	SEZ6L2	29791538	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.566000	0.36396	2.518000	0.84900	0.655000	0.94253	CGA	SEZ6L2	-	NULL	ENSG00000174938		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	120	0.00	0	C	NM_012410		29884037	29884037	-1	no_errors	ENST00000537485	ensembl	human	known	69_37n	missense	217	18.42	49	SNP	1.000	T
SGOL2	151246	genome.wustl.edu	37	2	201437004	201437004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr2:201437004delT	ENST00000357799.4	+	7	2033	c.1935delT	c.(1933-1935)aatfs	p.N645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAGGTAATTTTTTTTTCA	0.333																																						dbGAP											0									,,	57,3385		18,21,1682	69.0	71.0	71.0		,,	3.5	0.0	2		71	166,7484		64,38,3723	no	frameshift,frameshift,frameshift	SGOL2	NM_152524.5,NM_001160046.1,NM_001160033.1	,,	82,59,5405	A1A1,A1R,RR		2.1699,1.656,2.0105	,,	,,	201437004	223,10869	1785	4005	5790	-	-	-	SO:0001589	frameshift_variant	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1935delT	2.37:g.201437004delT	ENSP00000350447:p.Asn645fs		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Del	DEL	NULL	p.F648fs	ENST00000357799.4	37	c.1935	CCDS42796.1	2																																																																																			SGOL2	-	NULL	ENSG00000163535		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	37	0.00	0	T	NM_152524		201437004	201437004	+1	no_errors	ENST00000357799	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.016	-
SGOL2	151246	genome.wustl.edu	37	2	201437004	201437004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr2:201437004delT	ENST00000357799.4	+	7	2033	c.1935delT	c.(1933-1935)aatfs	p.N645fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	645					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAAGGTAATTTTTTTTTCA	0.333																																						dbGAP											0									,,	57,3385		18,21,1682	69.0	71.0	71.0		,,	3.5	0.0	2		71	166,7484		64,38,3723	no	frameshift,frameshift,frameshift	SGOL2	NM_152524.5,NM_001160046.1,NM_001160033.1	,,	82,59,5405	A1A1,A1R,RR		2.1699,1.656,2.0105	,,	,,	201437004	223,10869	1785	4005	5790	-	-	-	SO:0001589	frameshift_variant	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1935delT	2.37:g.201437004delT	ENSP00000350447:p.Asn645fs		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Del	DEL	NULL	p.F648fs	ENST00000357799.4	37	c.1935	CCDS42796.1	2																																																																																			SGOL2	-	NULL	ENSG00000163535		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	12	0.00	0	T	NM_152524		201437004	201437004	+1	no_errors	ENST00000357799	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.016	-
SLC16A1	6566	genome.wustl.edu	37	1	113456766	113456766	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr1:113456766C>T	ENST00000538576.1	-	5	2081	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G417E	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	417					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TTTGTAGTCTCCATACATGTC	0.383																																						dbGAP											0													98.0	93.0	95.0					1																	113456766		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1250G>A	1.37:g.113456766C>T	ENSP00000441065:p.Gly417Glu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G417E	ENST00000538576.1	37	c.1250	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953146	0.73902	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	D;D;D	0.87029	-2.2;-2.2;-2.2	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155442	0.56097	D	0.000024	D	0.90356	0.6982	M	0.78637	2.42	0.80722	D	1	P	0.38535	0.635	P	0.48982	0.597	D	0.90669	0.4596	10	0.66056	D	0.02	.	19.4945	0.95067	0.0:1.0:0.0:0.0	.	417	P53985	MOT1_HUMAN	E	417	ENSP00000358640:G417E;ENSP00000441065:G417E;ENSP00000416167:G417E	ENSP00000358640:G417E	G	-	2	0	SLC16A1	113258289	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.742000	0.62103	2.703000	0.92315	0.650000	0.86243	GGA	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.383	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	145	0.68	1	C	NM_003051		113456766	113456766	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	81	45.64	68	SNP	1.000	T
SLC16A1	6566	genome.wustl.edu	37	1	113456766	113456766	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr1:113456766C>T	ENST00000538576.1	-	5	2081	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	SLC16A1_ENST00000369626.3_Missense_Mutation_p.G417E	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	417					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TTTGTAGTCTCCATACATGTC	0.383																																						dbGAP											0													98.0	93.0	95.0					1																	113456766		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1250G>A	1.37:g.113456766C>T	ENSP00000441065:p.Gly417Glu		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G417E	ENST00000538576.1	37	c.1250	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953146	0.73902	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229	D;D;D	0.87029	-2.2;-2.2;-2.2	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.155442	0.56097	D	0.000024	D	0.90356	0.6982	M	0.78637	2.42	0.80722	D	1	P	0.38535	0.635	P	0.48982	0.597	D	0.90669	0.4596	10	0.66056	D	0.02	.	19.4945	0.95067	0.0:1.0:0.0:0.0	.	417	P53985	MOT1_HUMAN	E	417	ENSP00000358640:G417E;ENSP00000441065:G417E;ENSP00000416167:G417E	ENSP00000358640:G417E	G	-	2	0	SLC16A1	113258289	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	4.742000	0.62103	2.703000	0.92315	0.650000	0.86243	GGA	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.383	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	127	0.00	0	C	NM_003051		113456766	113456766	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	81	45.64	68	SNP	1.000	T
SSX3	10214	genome.wustl.edu	37	X	48214616	48214616	+	Splice_Site	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chrX:48214616C>A	ENST00000298396.2	-	2	121	c.69G>T	c.(67-69)aaG>aaT	p.K23N	SSX3_ENST00000376893.3_Splice_Site_p.K23N|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	23	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GTCACCTCACCTTTTGTATCT	0.537																																					Colon(37;227 826 19399 40970 48007)	dbGAP											0													263.0	200.0	221.0					X																	48214616		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.69+1G>T	X.37:g.48214616C>A			O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K23N	ENST00000298396.2	37	c.69	CCDS14291.1	X	.	.	.	.	.	.	.	.	.	.	c	14.15	2.449764	0.43531	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.00808	5.67;5.67	1.73	1.73	0.24493	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.142736	0.32563	N	0.005925	T	0.03608	0.0103	M	0.76002	2.32	0.09310	N	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.955	T	0.17137	-1.0379	9	.	.	.	.	6.3279	0.21255	0.0:1.0:0.0:0.0	.	23;23	Q9BRW7;Q99909	.;SSX3_HUMAN	N	23	ENSP00000298396:K23N;ENSP00000366090:K23N	.	K	-	3	2	SSX3	48099560	0.985000	0.35326	0.038000	0.18304	0.324000	0.28378	2.463000	0.45058	1.152000	0.42452	0.181000	0.17075	AAG	SSX3	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000165584		0.537	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX3	HGNC	protein_coding	OTTHUMT00000056486.1	922	0.22	2	C	NM_021014	Missense_Mutation	48214616	48214616	-1	no_errors	ENST00000298396	ensembl	human	known	69_37n	missense	519	45.31	430	SNP	0.036	A
SSX3	10214	genome.wustl.edu	37	X	48214616	48214616	+	Splice_Site	SNP	C	C	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chrX:48214616C>A	ENST00000298396.2	-	2	121	c.69G>T	c.(67-69)aaG>aaT	p.K23N	SSX3_ENST00000376893.3_Splice_Site_p.K23N|SSX3_ENST00000376895.1_5'Flank	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	23	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						GTCACCTCACCTTTTGTATCT	0.537																																					Colon(37;227 826 19399 40970 48007)	dbGAP											0													263.0	200.0	221.0					X																	48214616		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.69+1G>T	X.37:g.48214616C>A			O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K23N	ENST00000298396.2	37	c.69	CCDS14291.1	X	.	.	.	.	.	.	.	.	.	.	c	14.15	2.449764	0.43531	.	.	ENSG00000165584	ENST00000298396;ENST00000376893	T;T	0.00808	5.67;5.67	1.73	1.73	0.24493	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.142736	0.32563	N	0.005925	T	0.03608	0.0103	M	0.76002	2.32	0.09310	N	1	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.955	T	0.17137	-1.0379	9	.	.	.	.	6.3279	0.21255	0.0:1.0:0.0:0.0	.	23;23	Q9BRW7;Q99909	.;SSX3_HUMAN	N	23	ENSP00000298396:K23N;ENSP00000366090:K23N	.	K	-	3	2	SSX3	48099560	0.985000	0.35326	0.038000	0.18304	0.324000	0.28378	2.463000	0.45058	1.152000	0.42452	0.181000	0.17075	AAG	SSX3	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000165584		0.537	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX3	HGNC	protein_coding	OTTHUMT00000056486.1	884	0.00	0	C	NM_021014	Missense_Mutation	48214616	48214616	-1	no_errors	ENST00000298396	ensembl	human	known	69_37n	missense	519	45.31	430	SNP	0.036	A
TIMP3	7078	genome.wustl.edu	37	22	33245467	33245467	+	Silent	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr22:33245467G>A	ENST00000266085.6	+	2	451	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	50	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGGGGAAGAAGCTGGTAAAGG	0.542																																						dbGAP											0													96.0	79.0	85.0					22																	33245467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.150G>A	22.37:g.33245467G>A			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.K50	ENST00000266085.6	37	c.150	CCDS13911.1	22																																																																																			TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.542	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	226	0.44	1	G	NM_000362		33245467	33245467	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	silent	193	41.69	138	SNP	1.000	A
TIMP3	7078	genome.wustl.edu	37	22	33245467	33245467	+	Silent	SNP	G	G	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr22:33245467G>A	ENST00000266085.6	+	2	451	c.150G>A	c.(148-150)aaG>aaA	p.K50K	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	50	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGGGGAAGAAGCTGGTAAAGG	0.542																																						dbGAP											0													96.0	79.0	85.0					22																	33245467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.150G>A	22.37:g.33245467G>A			B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.K50	ENST00000266085.6	37	c.150	CCDS13911.1	22																																																																																			TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000100234		0.542	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	288	0.00	0	G	NM_000362		33245467	33245467	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	silent	193	41.69	138	SNP	1.000	A
TRAK1	22906	genome.wustl.edu	37	3	42230525	42230525	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr3:42230525C>T	ENST00000327628.5	+	6	999	c.599C>T	c.(598-600)tCg>tTg	p.S200L	TRAK1_ENST00000341421.3_Missense_Mutation_p.S142L|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S142L|TRAK1_ENST00000449246.1_Missense_Mutation_p.S126L	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	200	HAP1 N-terminal.|Poly-Ser.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGAATGAGTCGTCCTCCTCA	0.483																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													110.0	96.0	101.0					3																	42230525		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.599C>T	3.37:g.42230525C>T	ENSP00000328998:p.Ser200Leu		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S142L	ENST00000327628.5	37	c.425	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642962	0.67244	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421	T;T;D;D	0.88975	2.14;2.14;-2.45;-2.45	5.6	5.6	0.85130	.	0.073229	0.56097	D	0.000026	D	0.87649	0.6230	L	0.43646	1.37	0.43959	D	0.996639	P;P;P;P;P;P	0.46987	0.856;0.856;0.884;0.826;0.888;0.522	B;B;B;B;P;B	0.44561	0.227;0.227;0.381;0.204;0.453;0.081	D	0.87645	0.2524	10	0.45353	T	0.12	.	18.6088	0.91276	0.0:1.0:0.0:0.0	.	126;142;200;142;126;200	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	L	200;200;126;142;142	ENSP00000328998:S200L;ENSP00000410717:S126L;ENSP00000379478:S142L;ENSP00000340702:S142L	ENSP00000328998:S200L	S	+	2	0	TRAK1	42205529	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	6.698000	0.74608	2.624000	0.88883	0.643000	0.83706	TCG	TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.483	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	182	0.55	1	C	NM_014965		42230525	42230525	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	missense	123	39.02	80	SNP	0.993	T
ZNF675	171392	genome.wustl.edu	37	19	23837311	23837311	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr19:23837311T>A	ENST00000359788.4	-	4	592	c.424A>T	c.(424-426)Aaa>Taa	p.K142*	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	142					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAAACATTTTGCTCTGCATA	0.289																																						dbGAP											0													78.0	78.0	78.0					19																	23837311		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.424A>T	19.37:g.23837311T>A	ENSP00000352836:p.Lys142*		Q8N211	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K142*	ENST00000359788.4	37	c.424	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	14.61	2.585413	0.46110	.	.	ENSG00000197372	ENST00000359788	.	.	.	0.916	0.916	0.19373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.595	0.17321	0.0:0.0:0.0:1.0	.	.	.	.	X	142	.	ENSP00000352836:K142X	K	-	1	0	ZNF675	23629151	0.877000	0.30153	0.025000	0.17156	0.025000	0.11179	1.280000	0.33202	0.257000	0.21650	0.254000	0.18369	AAA	ZNF675	-	NULL	ENSG00000197372		0.289	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	212	0.00	0	T	NM_138330		23837311	23837311	-1	no_errors	ENST00000359788	ensembl	human	known	69_37n	nonsense	115	51.68	123	SNP	0.319	A
ZSCAN2	54993	genome.wustl.edu	37	15	85164438	85164438	+	Missense_Mutation	SNP	G	G	A	rs200321461		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	6c7d0beb-a20c-4cf8-8e52-2028a8620bb5	g.chr15:85164438G>A	ENST00000448803.2	+	3	1304	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E337K|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E338K|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E188K|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTCGTGCCCCGAGTGTGGAAA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16114	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	103.0	104.0					15																	85164438		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1012G>A	15.37:g.85164438G>A	ENSP00000410198:p.Glu338Lys		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E338K	ENST00000448803.2	37	c.1012	CCDS10329.2	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.70	1.423528	0.25639	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.78	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108348	0.41294	D	0.000912	T	0.18800	0.0451	N	0.16478	0.41	0.58432	D	0.999993	B;B	0.18013	0.025;0.003	B;B	0.12837	0.008;0.001	T	0.05616	-1.0874	9	.	.	.	-25.8347	7.8734	0.29580	0.0936:0.1636:0.7428:0.0	.	338;338	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	338;338;188;337;319	ENSP00000410198:E338K;ENSP00000445451:E338K;ENSP00000351257:E188K;ENSP00000325123:E337K	.	E	+	1	0	ZSCAN2	82965442	0.000000	0.05858	0.940000	0.37924	0.353000	0.29299	-0.191000	0.09601	1.137000	0.42214	0.655000	0.94253	GAG	ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.552	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	128	0.78	1	G	NM_017894		85164438	85164438	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	59	40.40	40	SNP	0.726	A
ZSCAN2	54993	genome.wustl.edu	37	15	85164438	85164438	+	Missense_Mutation	SNP	G	G	A	rs200321461		TCGA-E2-A15K-06A-11D-A12Q-09	TCGA-E2-A15K-11A-13D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f39cc911-36a7-4c06-9e91-4ad86281db3d	26163687-7ede-43be-aeb7-21ad33133d45	g.chr15:85164438G>A	ENST00000448803.2	+	3	1304	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E337K|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E338K|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E188K|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	338					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CTCGTGCCCCGAGTGTGGAAA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16114	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	103.0	104.0					15																	85164438		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1012G>A	15.37:g.85164438G>A	ENSP00000410198:p.Glu338Lys		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E338K	ENST00000448803.2	37	c.1012	CCDS10329.2	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.70	1.423528	0.25639	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.78	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108348	0.41294	D	0.000912	T	0.18800	0.0451	N	0.16478	0.41	0.58432	D	0.999993	B;B	0.18013	0.025;0.003	B;B	0.12837	0.008;0.001	T	0.05616	-1.0874	9	.	.	.	-25.8347	7.8734	0.29580	0.0936:0.1636:0.7428:0.0	.	338;338	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	K	338;338;188;337;319	ENSP00000410198:E338K;ENSP00000445451:E338K;ENSP00000351257:E188K;ENSP00000325123:E337K	.	E	+	1	0	ZSCAN2	82965442	0.000000	0.05858	0.940000	0.37924	0.353000	0.29299	-0.191000	0.09601	1.137000	0.42214	0.655000	0.94253	GAG	ZSCAN2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.552	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	85	0.00	0	G	NM_017894		85164438	85164438	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	59	40.40	40	SNP	0.726	A
