#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTN2	88	genome.wustl.edu	37	1	236924431	236924431	+	Silent	SNP	C	C	G	rs397516576		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:236924431C>G	ENST00000366578.4	+	20	2650	c.2484C>G	c.(2482-2484)gcC>gcG	p.A828A	ACTN2_ENST00000542672.1_Silent_p.A828A|ACTN2_ENST00000546208.1_Silent_p.A322A	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	828					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCGACACTGCCGAGCAGGTCA	0.527																																						dbGAP											0													101.0	93.0	96.0					1																	236924431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2484C>G	1.37:g.236924431C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.A828	ENST00000366578.4	37	c.2484	CCDS1613.1	1																																																																																			ACTN2	-	pfam_EF-hand_Ca_insen	ENSG00000077522		0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	134	0.74	1	C	NM_001103		236924431	236924431	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	silent	111	49.08	107	SNP	0.591	G
ACTN2	88	genome.wustl.edu	37	1	236925789	236925789	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:236925789G>A	ENST00000366578.4	+	21	2721	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	ACTN2_ENST00000542672.1_Missense_Mutation_p.R852Q|ACTN2_ENST00000546208.1_Missense_Mutation_p.R346Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	852					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCTGCGTCGGGAGCTGCCC	0.547																																						dbGAP											0													50.0	51.0	51.0					1																	236925789		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2555G>A	1.37:g.236925789G>A	ENSP00000355537:p.Arg852Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.R852Q	ENST00000366578.4	37	c.2555	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.136846	0.97315	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.41400	1.0;1.0;1.0	5.43	5.43	0.79202	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.66378	2.025	0.80722	D	1	D;P;D;D	0.76494	0.999;0.669;0.999;0.99	D;B;D;D	0.83275	0.996;0.286;0.996;0.963	T	0.65697	-0.6105	10	0.59425	D	0.04	.	19.6166	0.95636	0.0:0.0:1.0:0.0	.	637;852;622;852	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	Q	852;852;346;621	ENSP00000443495:R852Q;ENSP00000355537:R852Q;ENSP00000438384:R346Q	ENSP00000355537:R852Q	R	+	2	0	ACTN2	234992412	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	9.680000	0.98651	2.721000	0.93114	0.655000	0.94253	CGG	ACTN2	-	pfam_EF-hand_Ca_insen	ENSG00000077522		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	52	0.00	0	G	NM_001103		236925789	236925789	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84611369	84611369	+	Silent	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr15:84611369G>T	ENST00000286744.5	+	18	2363	c.2139G>T	c.(2137-2139)ggG>ggT	p.G713G	ADAMTSL3_ENST00000567476.1_Silent_p.G713G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	713	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.		G -> R (in dbSNP:rs34047645).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G713G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTTGGGGGCCCTGCTCAG	0.537																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											84.0	87.0	86.0					15																	84611369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2139G>T	15.37:g.84611369G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.G713	ENST00000286744.5	37	c.2139	CCDS10326.1	15																																																																																			ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156218		0.537	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	68	0.00	0	G	NM_207517		84611369	84611369	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	silent	78	12.36	11	SNP	0.001	T
AFF1	4299	genome.wustl.edu	37	4	88035880	88035881	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr4:88035880_88035881GG>TT	ENST00000307808.6	+	11	2294_2295	c.1874_1875GG>TT	c.(1873-1875)aGG>aTT	p.R625I	AFF1_ENST00000395146.4_Missense_Mutation_p.R632I|AFF1_ENST00000544085.1_Missense_Mutation_p.R263I	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	625					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CAGGGGGAAAGGGAGCCAGGGC	0.604																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	Exception_encountered	4.37:g.88035880_88035881delinsTT	ENSP00000305689:p.Arg625Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R632M|p.R632S	ENST00000307808.6	37	c.1895|c.1896	CCDS3616.1	4																																																																																			AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.604	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	17	0.00	0	G	NM_005935		88035880|88035881	88035880|88035881	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	missense	20	20.00|23.08	5|6	SNP	0.006|0.001	T
AKR1CL1	340811	genome.wustl.edu	37	10	5227011	5227011	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr10:5227011C>T	ENST00000334314.3	-	1	133	c.57G>A	c.(55-57)atG>atA	p.M19I	AKR1CL1_ENST00000445191.1_Missense_Mutation_p.M15I			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	19						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAGCACTGGCATGAAGGGTC	0.517																																					Ovarian(129;1623 1737 25446 28757 47467)	dbGAP											0													173.0	133.0	146.0					10																	5227011		2203	4300	6503	-	-	-	SO:0001583	missense	0					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.57G>A	10.37:g.5227011C>T	ENSP00000334626:p.Met19Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF66|Q6ZN81	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.M19I	ENST00000334314.3	37	c.57		10	.	.	.	.	.	.	.	.	.	.	C	2.187	-0.386230	0.04966	.	.	ENSG00000196326	ENST00000488756;ENST00000334314;ENST00000445191	T;T	0.43688	0.94;0.94	1.98	-0.154	0.13399	.	0.098404	0.39985	U	0.001215	T	0.13970	0.0338	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31668	-0.9935	7	0.02654	T	1	.	6.1952	0.20546	0.5362:0.4638:0.0:0.0	.	.	.	.	I	19;19;15	ENSP00000417935:M19I;ENSP00000334626:M19I	ENSP00000334626:M19I	M	-	3	0	AKR1CL1	5217011	0.172000	0.23043	0.014000	0.15608	0.008000	0.06430	-0.281000	0.08456	-0.030000	0.13804	-0.823000	0.03104	ATG	AKR1CL1	-	superfamily_NADP_OxRdtase_dom	ENSG00000196326		0.517	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	AKR1CL1	HGNC	protein_coding		281	0.00	0	C	NR_027916		5227011	5227011	-1	no_errors	ENST00000334314	ensembl	human	known	69_37n	missense	395	30.28	172	SNP	0.018	T
ALAS2	212	genome.wustl.edu	37	X	55052441	55052441	+	5'UTR	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chrX:55052441C>G	ENST00000330807.5	-	0	130				ALAS2_ENST00000396198.3_Missense_Mutation_p.R22T|ALAS2_ENST00000335854.4_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2						cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCTTGAACCTAAAGTCCTG	0.542																																						dbGAP											0													50.0	41.0	44.0					X																	55052441		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.-8G>C	X.37:g.55052441C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R22T	ENST00000330807.5	37	c.65	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164762	0.01673	.	.	ENSG00000158578	ENST00000396198	D	0.97114	-4.25	3.6	1.83	0.25207	.	.	.	.	.	D	0.90202	0.6937	N	0.08118	0	0.20074	N	0.999939	B	0.10296	0.003	B	0.10450	0.005	T	0.82518	-0.0417	9	0.40728	T	0.16	.	5.2453	0.15493	0.0:0.7236:0.0:0.2764	.	22	Q5JZF5	.	T	22	ENSP00000379501:R22T	ENSP00000379501:R22T	R	-	2	0	ALAS2	55069166	0.192000	0.23301	0.143000	0.22291	0.085000	0.17905	0.919000	0.28692	0.371000	0.24564	0.429000	0.28392	AGG	ALAS2	-	NULL	ENSG00000158578		0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	74	0.00	0	C	NM_000032		55052441	55052441	-1	no_errors	ENST00000396198	ensembl	human	novel	69_37n	missense	36	21.74	10	SNP	0.119	G
ANK3	288	genome.wustl.edu	37	10	61831032	61831032	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr10:61831032C>A	ENST00000280772.2	-	37	9798	c.9607G>T	c.(9607-9609)Gtt>Ttt	p.V3203F	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3203					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTCAGAAACCTCGGGAATT	0.478																																						dbGAP											0													111.0	109.0	109.0					10																	61831032		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9607G>T	10.37:g.61831032C>A	ENSP00000280772:p.Val3203Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.V3203F	ENST00000280772.2	37	c.9607	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349024	0.82132	.	.	ENSG00000151150	ENST00000280772	T	0.67171	-0.25	5.48	5.48	0.80851	.	0.197810	0.24688	N	0.036411	T	0.65831	0.2729	L	0.50333	1.59	0.80722	D	1	P	0.43169	0.8	B	0.41088	0.347	T	0.67457	-0.5666	10	0.45353	T	0.12	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	3203	Q12955	ANK3_HUMAN	F	3203	ENSP00000280772:V3203F	ENSP00000280772:V3203F	V	-	1	0	ANK3	61501038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.584000	0.87258	0.561000	0.74099	GTT	ANK3	-	NULL	ENSG00000151150		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	397	0.00	0	C	NM_020987		61831032	61831032	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	221	27.45	84	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21229507	21229507	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr2:21229507G>C	ENST00000233242.1	-	26	10360	c.10233C>G	c.(10231-10233)aaC>aaG	p.N3411K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3411	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAGTACTGTTATGACTAC	0.398																																						dbGAP											0													169.0	168.0	168.0					2																	21229507		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10233C>G	2.37:g.21229507G>C	ENSP00000233242:p.Asn3411Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N3411K	ENST00000233242.1	37	c.10233	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434827	0.25813	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35421	1.31	5.74	1.98	0.26296	.	0.284765	0.29707	N	0.011403	T	0.23492	0.0568	L	0.38175	1.15	0.80722	D	1	B	0.22211	0.066	B	0.22753	0.041	T	0.09618	-1.0666	10	0.72032	D	0.01	.	2.5837	0.04825	0.2581:0.1142:0.51:0.1177	.	3411	P04114	APOB_HUMAN	K	3411	ENSP00000233242:N3411K	ENSP00000233242:N3411K	N	-	3	2	APOB	21083012	0.777000	0.28628	0.998000	0.56505	0.193000	0.23685	-0.160000	0.10041	0.085000	0.17107	-0.126000	0.14955	AAC	APOB	-	NULL	ENSG00000084674		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	284	0.00	0	G			21229507	21229507	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	210	43.70	163	SNP	0.991	C
C1orf61	10485	genome.wustl.edu	37	1	156384545	156384545	+	Splice_Site	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:156384545G>C	ENST00000368243.1	-	4	188	c.72C>G	c.(70-72)agC>agG	p.S24R		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	24						nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CAGGTGAGAAGCTAAAGGGAA	0.532																																						dbGAP											0													27.0	28.0	28.0					1																	156384545		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.72-1C>G	1.37:g.156384545G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALL5|B1ALL8	Missense_Mutation	SNP	NULL	p.S24R	ENST00000368243.1	37	c.72	CCDS1142.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.119|9.119	1.008464|1.008464	0.19199|0.19199	.|.	.|.	ENSG00000125462|ENSG00000125462	ENST00000368242|ENST00000368243	.|.	.|.	.|.	4.21|4.21	-0.0949|-0.0949	0.13643|0.13643	.|.	.|.	.|.	.|.	.|.	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999993|0.999993	.|P	.|0.51351	.|0.944	.|P	.|0.52957	.|0.714	T|T	0.07195|0.07195	-1.0785|-1.0785	5|8	.|0.59425	.|D	.|0.04	.|.	2.7962|2.7962	0.05402|0.05402	0.3357:0.0:0.4607:0.2036|0.3357:0.0:0.4607:0.2036	.|.	.|24	.|Q13536	.|CROC4_HUMAN	G|R	56|24	.|.	.|ENSP00000357226:S24R	A|S	-|-	2|3	0|2	C1orf61|C1orf61	154651169|154651169	0.299000|0.299000	0.24426|0.24426	0.191000|0.191000	0.23289|0.23289	0.670000|0.670000	0.39368|0.39368	0.373000|0.373000	0.20484|0.20484	0.173000|0.173000	0.19788|0.19788	0.655000|0.655000	0.94253|0.94253	GCT|AGC	C1orf61	-	NULL	ENSG00000125462		0.532	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	HGNC	protein_coding	OTTHUMT00000075988.1	53	0.00	0	G	NM_006365	Missense_Mutation	156384545	156384545	-1	no_errors	ENST00000368243	ensembl	human	known	69_37n	missense	87	16.35	17	SNP	0.121	C
CACNG3	10368	genome.wustl.edu	37	16	24372732	24372732	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr16:24372732C>A	ENST00000005284.3	+	4	1698	c.496C>A	c.(496-498)Cag>Aag	p.Q166K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	166					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGACCCCGGGCAGCGTGACTC	0.448																																						dbGAP											0													116.0	128.0	124.0					16																	24372732		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.496C>A	16.37:g.24372732C>A	ENSP00000005284:p.Gln166Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.Q166K	ENST00000005284.3	37	c.496	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	C	1.052	-0.675570	0.03378	.	.	ENSG00000006116	ENST00000005284	D	0.87334	-2.24	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	N	0.00013	-2.93	0.53688	D	0.999979	B	0.16396	0.017	B	0.23419	0.046	T	0.65841	-0.6070	10	0.09843	T	0.71	-11.1395	16.81	0.85717	0.0:1.0:0.0:0.0	.	166	O60359	CCG3_HUMAN	K	166	ENSP00000005284:Q166K	ENSP00000005284:Q166K	Q	+	1	0	CACNG3	24280233	0.998000	0.40836	0.993000	0.49108	0.389000	0.30415	3.031000	0.49728	2.274000	0.75844	0.655000	0.94253	CAG	CACNG3	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000006116		0.448	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	221	0.00	0	C	NM_006539		24372732	24372732	+1	no_errors	ENST00000005284	ensembl	human	known	69_37n	missense	159	39.77	105	SNP	1.000	A
CAPS2	84698	genome.wustl.edu	37	12	75715242	75715242	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:75715242C>T	ENST00000409445.3	-	6	659	c.463G>A	c.(463-465)Gca>Aca	p.A155T	CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A105T	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	155							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTATTTTCTGCATTTCTCTGA	0.303																																						dbGAP											0													368.0	273.0	302.0					12																	75715242		692	1591	2283	-	-	-	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.463G>A	12.37:g.75715242C>T	ENSP00000386959:p.Ala155Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A155T	ENST00000409445.3	37	c.463	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	C	5.372	0.253841	0.10185	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000552497;ENST00000436898	D;D;D;T	0.82984	-1.67;-1.67;-1.67;0.79	5.42	-4.65	0.03339	.	0.594278	0.15885	N	0.239825	T	0.63977	0.2557	N	0.25485	0.75	0.29736	N	0.837518	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.004	T	0.48570	-0.9024	10	0.25751	T	0.34	-1.9277	5.3429	0.15994	0.4051:0.3393:0.0:0.2556	.	155;105	Q9BXY5;B9A061	CAYP2_HUMAN;.	T	105;155;50;49	ENSP00000386977:A105T;ENSP00000386959:A155T;ENSP00000449797:A50T;ENSP00000411797:A49T	ENSP00000338474:A50T	A	-	1	0	CAPS2	74001509	0.297000	0.24408	0.204000	0.23530	0.001000	0.01503	-0.397000	0.07269	-0.477000	0.06832	-1.278000	0.01390	GCA	CAPS2	-	NULL	ENSG00000180881		0.303	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	919	0.33	3	C			75715242	75715242	-1	no_errors	ENST00000409445	ensembl	human	known	69_37n	missense	803	24.86	266	SNP	0.262	T
CCDC88A	55704	genome.wustl.edu	37	2	55561331	55561331	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr2:55561331A>G	ENST00000436346.1	-	15	3467	c.2626T>C	c.(2626-2628)Tat>Cat	p.Y876H	CCDC88A_ENST00000263630.8_Missense_Mutation_p.Y876H|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Y876H|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Y876H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	876					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATTCTTTATATATACCAATT	0.303																																						dbGAP											0													63.0	66.0	65.0					2																	55561331		2199	4292	6491	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2626T>C	2.37:g.55561331A>G	ENSP00000410608:p.Tyr876His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Y876H	ENST00000436346.1	37	c.2626		2	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739939	0.30865	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000426576	T;T;T;T;T	0.32023	2.5;2.73;2.71;2.5;1.47	5.47	5.47	0.80525	.	0.332317	0.21546	U	0.072801	T	0.25005	0.0607	N	0.22421	0.69	0.80722	D	1	P;P;B;P;P	0.39311	0.667;0.504;0.356;0.623;0.504	B;B;B;B;B	0.38921	0.285;0.198;0.077;0.126;0.098	T	0.04427	-1.0952	10	0.46703	T	0.11	-2.9663	15.8495	0.78916	1.0:0.0:0.0:0.0	.	876;876;876;876;876	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	H	876;876;876;876;51	ENSP00000338728:Y876H;ENSP00000263630:Y876H;ENSP00000410608:Y876H;ENSP00000404431:Y876H;ENSP00000405080:Y51H	ENSP00000263630:Y876H	Y	-	1	0	CCDC88A	55414835	1.000000	0.71417	0.935000	0.37517	0.933000	0.57130	4.146000	0.58072	2.203000	0.70933	0.455000	0.32223	TAT	CCDC88A	-	NULL	ENSG00000115355		0.303	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		399	0.00	0	A	NM_017571		55561331	55561331	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	266	36.36	152	SNP	0.702	G
CD4	920	genome.wustl.edu	37	12	6924071	6924071	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:6924071C>G	ENST00000011653.4	+	5	778	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.L119V	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	174	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CGTGTCTCAGCTGGAGCTCCA	0.552																																						dbGAP											0													87.0	76.0	80.0					12																	6924071		2203	4300	6503	-	-	-	SO:0001583	missense	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.520C>G	12.37:g.6924071C>G	ENSP00000011653:p.Leu174Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.L174V	ENST00000011653.4	37	c.520	CCDS8562.1	12	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565373	0.13498	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.25085	1.82;1.82	3.93	-7.87	0.01183	Immunoglobulin subtype (1);Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.446155	0.21954	N	0.066691	T	0.18130	0.0435	L	0.28608	0.87	0.09310	N	1	B;B	0.28439	0.212;0.026	P;B	0.45829	0.494;0.086	T	0.33904	-0.9850	10	0.02654	T	1	0.497	10.4658	0.44607	0.4045:0.1213:0.4741:0.0	.	119;174	F5H480;P01730	.;CD4_HUMAN	V	174;119	ENSP00000011653:L174V;ENSP00000445167:L119V	ENSP00000011653:L174V	L	+	1	2	CD4	6794332	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-5.583000	0.00112	-2.039000	0.00917	0.462000	0.41574	CTG	CD4	-	pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000010610		0.552	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	132	0.00	0	C	NM_000616		6924071	6924071	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	missense	351	35.53	194	SNP	0.000	G
CD4	920	genome.wustl.edu	37	12	6925370	6925370	+	Silent	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:6925370C>T	ENST00000011653.4	+	6	1014	c.756C>T	c.(754-756)atC>atT	p.I252I	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	252	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AGTCTTGGATCACCTTTGACC	0.572																																						dbGAP											0													141.0	122.0	129.0					12																	6925370		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.756C>T	12.37:g.6925370C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.I252	ENST00000011653.4	37	c.756	CCDS8562.1	12																																																																																			CD4	-	pfam_CD4-extracel,smart_Ig_sub,prints_Ag_CD4	ENSG00000010610		0.572	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	89	0.00	0	C	NM_000616		6925370	6925370	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	silent	279	33.09	138	SNP	0.001	T
CCT2	10576	genome.wustl.edu	37	12	69991764	69991764	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:69991764G>C	ENST00000299300.6	+	13	1436	c.1248G>C	c.(1246-1248)ttG>ttC	p.L416F	CCT2_ENST00000543146.2_Missense_Mutation_p.L369F|CCT2_ENST00000544368.2_Missense_Mutation_p.L416F	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	416					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGAGATGTTGATGGCTCATG	0.378																																						dbGAP											0													46.0	41.0	43.0					12																	69991764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1248G>C	12.37:g.69991764G>C	ENSP00000299300:p.Leu416Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.L416F	ENST00000299300.6	37	c.1248	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883617	0.33255	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.78364	-1.17;-1.17;-1.17	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	L	0.60845	1.875	0.80722	D	1	B;D	0.52996	0.22;0.957	B;P	0.56434	0.042;0.798	T	0.82063	-0.0643	9	.	.	.	-9.3393	13.3032	0.60336	0.0728:0.0:0.9272:0.0	.	416;416	F5GWF6;P78371	.;TCPB_HUMAN	F	416;416;369	ENSP00000299300:L416F;ENSP00000441847:L416F;ENSP00000445471:L369F	.	L	+	3	2	CCT2	68278031	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.282000	0.58971	1.630000	0.50440	0.655000	0.94253	TTG	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta	ENSG00000166226		0.378	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	107	0.00	0	G	NM_006431		69991764	69991764	+1	no_errors	ENST00000299300	ensembl	human	known	69_37n	missense	61	44.14	49	SNP	1.000	C
CEP68	23177	genome.wustl.edu	37	2	65298635	65298635	+	Silent	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr2:65298635G>C	ENST00000377990.2	+	3	608	c.405G>C	c.(403-405)ctG>ctC	p.L135L	CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.L135L|CEP68_ENST00000260569.4_Silent_p.L135L|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	135					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAGACTCTGAGCCTTCCCA	0.488																																						dbGAP											0													95.0	94.0	95.0					2																	65298635		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.405G>C	2.37:g.65298635G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	NULL	p.L135	ENST00000377990.2	37	c.405	CCDS1880.2	2																																																																																			CEP68	-	NULL	ENSG00000011523		0.488	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	119	0.00	0	G	NM_015147		65298635	65298635	+1	no_errors	ENST00000377990	ensembl	human	known	69_37n	silent	124	16.11	24	SNP	0.000	C
CLASP2	23122	genome.wustl.edu	37	3	33580407	33580407	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:33580407C>T	ENST00000468888.2	-	33	3502	c.3456G>A	c.(3454-3456)atG>atA	p.M1152I	CLASP2_ENST00000539981.1_Missense_Mutation_p.M921I|CLASP2_ENST00000480013.1_Missense_Mutation_p.M931I|CLASP2_ENST00000359576.5_Missense_Mutation_p.M1143I|CLASP2_ENST00000307312.7_Missense_Mutation_p.M633I|CLASP2_ENST00000461133.3_Missense_Mutation_p.M911I|CLASP2_ENST00000399362.4_Missense_Mutation_p.M1151I			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	932	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTCAGAGTTCATATTTTCTG	0.338																																						dbGAP											0													51.0	46.0	47.0					3																	33580407		1809	4065	5874	-	-	-	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3456G>A	3.37:g.33580407C>T	ENSP00000419974:p.Met1152Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.M1151I	ENST00000468888.2	37	c.3453		3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463724	0.84425	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T	0.64803	2.15;2.15;2.15;-0.12	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	L	0.43152	1.355	0.80722	D	1	P;P;B	0.41546	0.754;0.6;0.116	B;B;B	0.36808	0.184;0.233;0.146	T	0.53920	-0.8370	10	0.25106	T	0.35	-17.317	18.8684	0.92303	0.0:1.0:0.0:0.0	.	932;1143;1151	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	I	1152;1151;1143;633;921;931;911	ENSP00000419974:M1152I;ENSP00000382297:M1151I;ENSP00000352581:M1143I;ENSP00000439039:M921I	ENSP00000304743:M633I	M	-	3	0	CLASP2	33555411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.086000	0.71352	2.446000	0.82766	0.561000	0.74099	ATG	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	253	0.00	0	C	NM_001207044		33580407	33580407	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	missense	66	62.07	108	SNP	1.000	T
COLEC12	81035	genome.wustl.edu	37	18	346546	346546	+	Missense_Mutation	SNP	G	G	A	rs568456291		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr18:346546G>A	ENST00000400256.3	-	5	1283	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	359					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22139	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													191.0	158.0	169.0					18																	346546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1076C>T	18.37:g.346546G>A	ENSP00000383115:p.Thr359Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.T359M	ENST00000400256.3	37	c.1076	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499693	0.44455	.	.	ENSG00000158270	ENST00000400256	T	0.78481	-1.18	5.86	4.98	0.66077	.	0.141045	0.64402	D	0.000004	T	0.73313	0.3571	L	0.27053	0.805	0.45634	D	0.998568	D	0.63046	0.992	P	0.47528	0.549	T	0.77464	-0.2578	10	0.66056	D	0.02	-12.8451	17.0222	0.86437	0.0:0.1273:0.8727:0.0	.	359	Q5KU26	COL12_HUMAN	M	359	ENSP00000383115:T359M	ENSP00000383115:T359M	T	-	2	0	COLEC12	336546	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	5.357000	0.66058	1.467000	0.48044	-0.176000	0.13171	ACG	COLEC12	-	NULL	ENSG00000158270		0.473	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	540	0.00	0	G			346546	346546	-1	no_errors	ENST00000400256	ensembl	human	known	69_37n	missense	153	68.76	339	SNP	1.000	A
CSPG4	1464	genome.wustl.edu	37	15	75980944	75980944	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr15:75980944A>G	ENST00000308508.5	-	3	2554	c.2462T>C	c.(2461-2463)tTc>tCc	p.F821S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	821	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCATAATGGAAGGTTGGGGG	0.612																																						dbGAP											0													45.0	52.0	50.0					15																	75980944		2192	4285	6477	-	-	-	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2462T>C	15.37:g.75980944A>G	ENSP00000312506:p.Phe821Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.F821S	ENST00000308508.5	37	c.2462	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	16.73	3.204902	0.58234	.	.	ENSG00000173546	ENST00000308508	T	0.28666	1.6	5.3	5.3	0.74995	.	0.069238	0.64402	D	0.000008	T	0.41419	0.1158	M	0.62723	1.935	0.47737	D	0.999502	D	0.60575	0.988	P	0.49361	0.608	T	0.42916	-0.9423	10	0.87932	D	0	.	14.4254	0.67212	1.0:0.0:0.0:0.0	.	821	Q6UVK1	CSPG4_HUMAN	S	821	ENSP00000312506:F821S	ENSP00000312506:F821S	F	-	2	0	CSPG4	73767999	1.000000	0.71417	0.996000	0.52242	0.560000	0.35617	7.078000	0.76821	1.995000	0.58328	0.528000	0.53228	TTC	CSPG4	-	NULL	ENSG00000173546		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	19	0.00	0	A	NM_001897		75980944	75980944	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	missense	3	82.35	14	SNP	1.000	G
CTNND2	1501	genome.wustl.edu	37	5	11022927	11022927	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr5:11022927C>T	ENST00000304623.8	-	17	3142	c.2953G>A	c.(2953-2955)Ggt>Agt	p.G985S	CTNND2_ENST00000503622.1_Missense_Mutation_p.G648S|CTNND2_ENST00000359640.2_Missense_Mutation_p.G927S|CTNND2_ENST00000511377.1_Missense_Mutation_p.G894S|CTNND2_ENST00000458100.2_Missense_Mutation_p.G552S|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	985					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCGATGCCACCGGCATCCCGT	0.498																																						dbGAP											0													185.0	147.0	160.0					5																	11022927		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2953G>A	5.37:g.11022927C>T	ENSP00000307134:p.Gly985Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G985S	ENST00000304623.8	37	c.2953	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.727789	0.96847	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	T	0.74000	-0.3805	10	0.66056	D	0.02	-15.2855	19.7154	0.96115	0.0:1.0:0.0:0.0	.	648;577;985	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	S	985;927;894;80;552;648	ENSP00000307134:G985S;ENSP00000352661:G927S;ENSP00000426510:G894S;ENSP00000391155:G552S;ENSP00000426887:G648S	ENSP00000307134:G985S	G	-	1	0	CTNND2	11075927	1.000000	0.71417	0.276000	0.24689	0.984000	0.73092	7.755000	0.85180	2.664000	0.90586	0.655000	0.94253	GGT	CTNND2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169862		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	218	0.46	1	C	NM_001332		11022927	11022927	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	missense	195	37.10	115	SNP	1.000	T
DIRC2	84925	genome.wustl.edu	37	3	122545663	122545663	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:122545663C>G	ENST00000261038.5	+	3	852	c.454C>G	c.(454-456)Cag>Gag	p.Q152E		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	152					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TCATGGAGGACAGATGTTAAA	0.393																																						dbGAP											0													84.0	90.0	88.0					3																	122545663		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.454C>G	3.37:g.122545663C>G	ENSP00000261038:p.Gln152Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.Q152E	ENST00000261038.5	37	c.454	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572490	0.86542	.	.	ENSG00000138463	ENST00000261038	T	0.58940	0.3	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.152569	0.64402	D	0.000009	T	0.68751	0.3035	M	0.67700	2.07	0.80722	D	1	P	0.48834	0.916	P	0.50934	0.654	T	0.71217	-0.4658	10	0.87932	D	0	.	19.3094	0.94179	0.0:1.0:0.0:0.0	.	152	Q96SL1	DIRC2_HUMAN	E	152	ENSP00000261038:Q152E	ENSP00000261038:Q152E	Q	+	1	0	DIRC2	124028353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.135000	0.77276	2.810000	0.96702	0.650000	0.86243	CAG	DIRC2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138463		0.393	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	286	0.00	0	C	NM_032839		122545663	122545663	+1	no_errors	ENST00000261038	ensembl	human	known	69_37n	missense	187	41.80	135	SNP	1.000	G
DVL1	1855	genome.wustl.edu	37	1	1275510	1275510	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:1275510G>A	ENST00000378888.5	-	8	1101	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	DVL1_ENST00000378891.5_Missense_Mutation_p.R273C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	273	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCGTCTCCACGGTCGTTGCTC	0.642																																						dbGAP											0													63.0	64.0	63.0					1																	1275510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.817C>T	1.37:g.1275510G>A	ENSP00000368166:p.Arg273Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA33|Q5TA35	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_1,prints_Dishevelled	p.R273C	ENST00000378888.5	37	c.817		1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909132	0.33721	.	.	ENSG00000107404	ENST00000378891;ENST00000378888	T;T	0.30448	1.53;1.53	3.43	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	L	0.48877	1.53	0.80722	D	1	B	0.34329	0.449	B	0.29716	0.106	T	0.30909	-0.9962	10	0.62326	D	0.03	.	15.4663	0.75403	0.0:0.0:1.0:0.0	.	273	O14640-2	.	C	273	ENSP00000368169:R273C;ENSP00000368166:R273C	ENSP00000368166:R273C	R	-	1	0	DVL1	1265373	1.000000	0.71417	0.992000	0.48379	0.173000	0.22820	5.185000	0.65076	1.933000	0.56026	0.456000	0.33151	CGT	DVL1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107404		0.642	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	100	0.00	0	G	NM_004421		1275510	1275510	-1	no_errors	ENST00000378888	ensembl	human	known	69_37n	missense	149	15.34	27	SNP	1.000	A
ELMO1	9844	genome.wustl.edu	37	7	36934509	36934509	+	Silent	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:36934509G>A	ENST00000310758.4	-	17	2198	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	ELMO1_ENST00000396045.3_Silent_p.I37I|ELMO1_ENST00000341056.3_Silent_p.I219I|ELMO1_ENST00000396040.2_Silent_p.I37I|ELMO1_ENST00000448602.1_Silent_p.I517I|ELMO1_ENST00000442504.1_Silent_p.I517I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	517					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGACTGGCGGATTTTCAGGA	0.478																																						dbGAP											0													190.0	170.0	177.0					7																	36934509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1551C>T	7.37:g.36934509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.I517	ENST00000310758.4	37	c.1551	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	490	0.00	0	G	NM_130442		36934509	36934509	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	silent	366	34.76	195	SNP	1.000	A
ENPP4	22875	genome.wustl.edu	37	6	46111325	46111325	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr6:46111325C>A	ENST00000321037.4	+	4	1540	c.1310C>A	c.(1309-1311)cCa>cAa	p.P437Q		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	437					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTACCTCGTCCATTTTCTCGA	0.398																																						dbGAP											0													194.0	175.0	182.0					6																	46111325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1310C>A	6.37:g.46111325C>A	ENSP00000318066:p.Pro437Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P437Q	ENST00000321037.4	37	c.1310	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	C	13.58	2.281112	0.40394	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72394	-0.65	5.91	5.91	0.95273	.	2.061010	0.01618	N	0.022871	T	0.59432	0.2193	L	0.60455	1.87	0.42139	D	0.991504	B	0.31077	0.307	B	0.24701	0.055	T	0.39121	-0.9629	10	0.33141	T	0.24	-8.3313	15.0617	0.71961	0.1418:0.8582:0.0:0.0	.	437	Q9Y6X5	ENPP4_HUMAN	Q	437	ENSP00000318066:P437Q	ENSP00000318066:P437Q	P	+	2	0	ENPP4	46219284	0.186000	0.23225	0.296000	0.24974	0.911000	0.54048	3.237000	0.51344	2.793000	0.96121	0.655000	0.94253	CCA	ENPP4	-	NULL	ENSG00000001561		0.398	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	306	0.00	0	C			46111325	46111325	+1	no_errors	ENST00000321037	ensembl	human	known	69_37n	missense	236	38.82	151	SNP	0.760	A
FADS2	9415	genome.wustl.edu	37	11	61631214	61631214	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr11:61631214C>G	ENST00000278840.4	+	10	1743	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	FADS2_ENST00000257261.6_Missense_Mutation_p.F349L|FADS2_ENST00000521849.1_Missense_Mutation_p.F371L|FADS2_ENST00000522056.1_Missense_Mutation_p.F340L	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	371					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AGTCCTTCTTCAACGACTGGT	0.627																																						dbGAP											0													93.0	73.0	79.0					11																	61631214		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.1113C>G	11.37:g.61631214C>G	ENSP00000278840:p.Phe371Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.F371L	ENST00000278840.4	37	c.1113	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862037	0.91433	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000355484	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.84	3.9	0.45041	Fatty acid desaturase, type 1 (1);	0.000000	0.64402	D	0.000006	T	0.22475	0.0542	L	0.41027	1.25	0.80722	D	1	B;B;P;B	0.45474	0.008;0.18;0.859;0.016	B;B;P;B	0.50934	0.044;0.174;0.654;0.036	T	0.00742	-1.1585	10	0.44086	T	0.13	-5.2163	12.9664	0.58485	0.0:0.914:0.0:0.086	.	340;371;371;349	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	L	349;340;371;371;137	ENSP00000257261:F349L;ENSP00000429500:F340L;ENSP00000278840:F371L;ENSP00000431091:F371L;ENSP00000437965:F137L	ENSP00000257261:F349L	F	+	3	2	FADS2	61387790	1.000000	0.71417	0.990000	0.47175	0.947000	0.59692	3.098000	0.50259	2.409000	0.81822	0.462000	0.41574	TTC	FADS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.627	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	111	0.00	0	C	NM_004265		61631214	61631214	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	missense	116	30.12	50	SNP	1.000	G
MROH5	389690	genome.wustl.edu	37	8	142517235	142517235	+	RNA	SNP	A	A	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr8:142517235A>G	ENST00000430863.1	-	0	95					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCCTTTCAGAACACTGCCTGT	0.642																																						dbGAP											0													87.0	92.0	91.0					8																	142517235		2121	4220	6341	-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142517235A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.C5	ENST00000430863.1	37	c.15		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.642	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	88	0.00	0	A	NM_207414		142517235	142517235	-1	no_errors	ENST00000521053	ensembl	human	known	69_37n	silent	181	17.94	40	SNP	0.000	G
FOXA1	3169	genome.wustl.edu	37	14	38061531	38061531	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr14:38061531G>A	ENST00000250448.2	-	2	519	c.458C>T	c.(457-459)gCg>gTg	p.A153V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.A120V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	153					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		gccgccgcccgcgcggctgcg	0.706																																						dbGAP											0													30.0	31.0	31.0					14																	38061531		2199	4286	6485	-	-	-	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.458C>T	14.37:g.38061531G>A	ENSP00000250448:p.Ala153Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A153V	ENST00000250448.2	37	c.458	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652779	0.47362	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.92299	-3.0;-3.01	3.04	3.04	0.35103	Fork-head N-terminal (1);	0.934716	0.08960	N	0.868835	D	0.82398	0.5028	N	0.08118	0	0.33821	D	0.629109	B	0.25390	0.125	B	0.14023	0.01	T	0.77915	-0.2409	10	0.23891	T	0.37	.	11.9436	0.52915	0.0:0.0:1.0:0.0	.	153	P55317	FOXA1_HUMAN	V	153;120	ENSP00000250448:A153V;ENSP00000440178:A120V	ENSP00000250448:A153V	A	-	2	0	FOXA1	37131282	0.971000	0.33674	0.846000	0.33378	0.861000	0.49209	0.923000	0.28757	1.998000	0.58463	0.505000	0.49811	GCG	FOXA1	-	pfam_Fork-head_N	ENSG00000129514		0.706	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	31	0.00	0	G			38061531	38061531	-1	no_errors	ENST00000250448	ensembl	human	known	69_37n	missense	18	57.14	24	SNP	0.991	A
GPRASP2	114928	genome.wustl.edu	37	X	101972006	101972006	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chrX:101972006C>T	ENST00000535209.1	+	4	3040	c.2209C>T	c.(2209-2211)Cac>Tac	p.H737Y	GPRASP2_ENST00000543253.1_Missense_Mutation_p.H737Y|GPRASP2_ENST00000332262.5_Missense_Mutation_p.H737Y			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	737						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AACGAAGTTTCACGTTCTGAA	0.388																																						dbGAP											0													91.0	85.0	87.0					X																	101972006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2209C>T	X.37:g.101972006C>T	ENSP00000437394:p.His737Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.H737Y	ENST00000535209.1	37	c.2209	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	C	0.950	-0.706724	0.03230	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.29142	1.58;1.58;1.58	4.17	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.152850	0.30455	N	0.009585	T	0.26738	0.0654	L	0.52011	1.625	0.21878	N	0.999495	B	0.25351	0.124	B	0.28465	0.09	T	0.19128	-1.0315	10	0.46703	T	0.11	.	7.7597	0.28944	0.3277:0.6723:0.0:0.0	.	737	Q96D09	GASP2_HUMAN	Y	737	ENSP00000437872:H737Y;ENSP00000437394:H737Y;ENSP00000339057:H737Y	ENSP00000339057:H737Y	H	+	1	0	GPRASP2	101858662	0.855000	0.29742	0.478000	0.27316	0.042000	0.13812	0.439000	0.21575	0.948000	0.37687	0.513000	0.50165	CAC	GPRASP2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000158301		0.388	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	265	0.00	0	C	NM_138437		101972006	101972006	+1	no_errors	ENST00000332262	ensembl	human	known	69_37n	missense	61	62.58	102	SNP	0.497	T
GRIP2	80852	genome.wustl.edu	37	3	14552762	14552762	+	RNA	SNP	T	T	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:14552762T>C	ENST00000273083.3	-	0	1908							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGGGCAGTTGTCCAGGCGGAT	0.617																																						dbGAP											0													78.0	82.0	80.0					3																	14552762		2071	4218	6289	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552762T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.617	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	186	0.53	1	T	NM_001080423		14552762	14552762	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	164	30.83	74	SNP	1.000	C
IL12RB1	3594	genome.wustl.edu	37	19	18173028	18173028	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr19:18173028G>T	ENST00000600835.2	-	15	1976	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I	IL12RB1_ENST00000593993.2_Missense_Mutation_p.L560I			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	560					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCCACGAGAAGGATGCTCAGG	0.567																																						dbGAP											0													84.0	90.0	88.0					19																	18173028		2011	4168	6179	-	-	-	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1678C>A	19.37:g.18173028G>T	ENSP00000470788:p.Leu560Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L560I	ENST00000600835.2	37	c.1678	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694001	0.48202	.	.	ENSG00000096996	ENST00000430026	T	0.75050	-0.9	2.49	2.49	0.30216	.	0.388899	0.18666	N	0.134589	T	0.75910	0.3914	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.70920	-0.4741	10	0.08179	T	0.78	-15.356	8.6188	0.33849	0.0:0.0:1.0:0.0	.	560;560	P42701-2;P42701	.;I12R1_HUMAN	I	560	ENSP00000403103:L560I	ENSP00000403103:L560I	L	-	1	0	IL12RB1	18034028	0.793000	0.28825	0.985000	0.45067	0.892000	0.51952	1.196000	0.32198	1.735000	0.51646	0.313000	0.20887	CTT	IL12RB1	-	NULL	ENSG00000096996		0.567	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	134	0.00	0	G			18173028	18173028	-1	no_errors	ENST00000430026	ensembl	human	known	69_37n	missense	165	21.80	46	SNP	0.985	T
KATNAL1	84056	genome.wustl.edu	37	13	30854258	30854258	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr13:30854258G>C	ENST00000380615.3	-	3	432	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.Q89E	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGTTCATCTTGACAGGACACA	0.393																																						dbGAP											0													75.0	79.0	77.0					13																	30854258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.265C>G	13.37:g.30854258G>C	ENSP00000369989:p.Gln89Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase	p.Q89E	ENST00000380615.3	37	c.265	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212984	0.22289	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.93712	-3.27;-3.27	5.5	5.5	0.81552	.	0.555040	0.21316	N	0.076550	D	0.84911	0.5577	N	0.14661	0.345	0.21386	N	0.9997	B	0.02656	0.0	B	0.06405	0.002	T	0.63097	-0.6713	10	0.02654	T	1	2.2064	14.9485	0.71050	0.0:0.1426:0.8574:0.0	.	89	Q9BW62	KATL1_HUMAN	E	89	ENSP00000369989:Q89E;ENSP00000369991:Q89E	ENSP00000369989:Q89E	Q	-	1	0	KATNAL1	29752258	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	3.386000	0.52492	2.591000	0.87537	0.462000	0.41574	CAA	KATNAL1	-	NULL	ENSG00000102781		0.393	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	358	0.00	0	G	NM_032116		30854258	30854258	-1	no_errors	ENST00000380615	ensembl	human	known	69_37n	missense	109	66.05	214	SNP	0.649	C
KIF13A	63971	genome.wustl.edu	37	6	17799628	17799628	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr6:17799628T>C	ENST00000259711.6	-	22	2764	c.2659A>G	c.(2659-2661)Aat>Gat	p.N887D	KIF13A_ENST00000378826.2_Missense_Mutation_p.N887D|KIF13A_ENST00000378843.2_Missense_Mutation_p.N887D|KIF13A_ENST00000378816.5_Missense_Mutation_p.N887D|KIF13A_ENST00000378814.5_Missense_Mutation_p.N887D	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	887					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGACAAAATTTGAGAGGTTT	0.448																																						dbGAP											0													58.0	56.0	57.0					6																	17799628		1855	4098	5953	-	-	-	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2659A>G	6.37:g.17799628T>C	ENSP00000259711:p.Asn887Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N887D	ENST00000259711.6	37	c.2659	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119881	0.56613	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.99;0.998;0.997	D;P;D;D	0.69824	0.966;0.855;0.926;0.909	T	0.66555	-0.5894	10	0.40728	T	0.16	.	15.8177	0.78615	0.0:0.0:0.0:1.0	.	887;887;887;887	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	D	887	ENSP00000368091:N887D;ENSP00000259711:N887D;ENSP00000368103:N887D;ENSP00000368120:N887D;ENSP00000368093:N887D	ENSP00000259711:N887D	N	-	1	0	KIF13A	17907607	1.000000	0.71417	0.897000	0.35233	0.388000	0.30384	6.058000	0.71126	2.143000	0.66587	0.383000	0.25322	AAT	KIF13A	-	NULL	ENSG00000137177		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	274	0.00	0	T			17799628	17799628	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	missense	255	14.38	43	SNP	0.997	C
KLHL13	90293	genome.wustl.edu	37	X	117033283	117033283	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chrX:117033283G>A	ENST00000262820.3	-	7	2465	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	KLHL13_ENST00000545703.1_Missense_Mutation_p.A477V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A468V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A468V|KLHL13_ENST00000540167.1_Missense_Mutation_p.A503V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A522V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A503V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A468V|KLHL13_ENST00000371876.1_Missense_Mutation_p.A468V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	519					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.A519V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTCATTGGCGCCTTCTGGAT	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											211.0	201.0	205.0					X																	117033283		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1556C>T	X.37:g.117033283G>A	ENSP00000262820:p.Ala519Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A522V	ENST00000262820.3	37	c.1565	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236815	0.79800	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.03	5.03	0.67393	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	M	0.83223	2.63	0.80722	D	1	D;D;D;D	0.69078	0.997;0.978;0.997;0.997	P;P;P;D	0.64776	0.883;0.828;0.883;0.929	D	0.91535	0.5245	10	0.87932	D	0	.	17.4428	0.87569	0.0:0.0:1.0:0.0	.	503;522;513;519	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	V	468;468;468;468;503;503;522;519;477;468	ENSP00000360949:A468V;ENSP00000360943:A468V;ENSP00000360945:A468V;ENSP00000412640:A468V;ENSP00000444450:A503V;ENSP00000441029:A503V;ENSP00000443191:A522V;ENSP00000262820:A519V;ENSP00000440707:A477V;ENSP00000419803:A468V	ENSP00000262820:A519V	A	-	2	0	KLHL13	116917311	1.000000	0.71417	0.972000	0.41901	0.966000	0.64601	9.657000	0.98554	2.302000	0.77476	0.600000	0.82982	GCG	KLHL13	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.423	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		287	0.00	0	G	NM_033495		117033283	117033283	-1	no_errors	ENST00000539496	ensembl	human	known	69_37n	missense	46	70.00	112	SNP	1.000	A
KSR2	283455	genome.wustl.edu	37	12	117962668	117962668	+	Silent	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:117962668G>A	ENST00000339824.5	-	14	2935	c.2208C>T	c.(2206-2208)gcC>gcT	p.A736A	KSR2_ENST00000302438.5_Silent_p.A433A|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.A707A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	736	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTGATGATGGCCAGGTGAG	0.552																																						dbGAP											0													43.0	44.0	43.0					12																	117962668		2048	4185	6233	-	-	-	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2208C>T	12.37:g.117962668G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A736	ENST00000339824.5	37	c.2208		12																																																																																			KSR2	-	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	ENSG00000171435		0.552	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	41	0.00	0	G	NM_173598		117962668	117962668	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	silent	25	41.86	18	SNP	0.993	A
LAMB1	3912	genome.wustl.edu	37	7	107580692	107580692	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:107580692C>G	ENST00000222399.6	-	25	3733	c.3503G>C	c.(3502-3504)gGg>gCg	p.G1168A	LAMB1_ENST00000393561.1_Missense_Mutation_p.G1192A|CTB-13F3.1_ENST00000608515.1_RNA	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1168	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCCCGAGTACCCTCGCGTGCA	0.602																																						dbGAP											0													121.0	104.0	110.0					7																	107580692		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3503G>C	7.37:g.107580692C>G	ENSP00000222399:p.Gly1168Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1168A	ENST00000222399.6	37	c.3503	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037520	0.93630	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.66280	-0.2;-0.2	5.4	5.4	0.78164	EGF-like, laminin (4);	.	.	.	.	D	0.86481	0.5943	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90057	0.4153	9	0.72032	D	0.01	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	1168;1192	P07942;G3XAI2	LAMB1_HUMAN;.	A	1192;1168	ENSP00000377191:G1192A;ENSP00000222399:G1168A	ENSP00000222399:G1168A	G	-	2	0	LAMB1	107367928	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.320000	0.79064	2.814000	0.96858	0.563000	0.77884	GGG	LAMB1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000091136		0.602	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	64	0.00	0	C	NM_002291		107580692	107580692	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	missense	81	26.13	29	SNP	1.000	G
LILRA1	11024	genome.wustl.edu	37	19	55107251	55107251	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr19:55107251G>A	ENST00000251372.3	+	6	991	c.809G>A	c.(808-810)gGc>gAc	p.G270D	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	270	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGCTCCCTGGCCCACAGCCC	0.612																																						dbGAP											0													95.0	95.0	95.0					19																	55107251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.809G>A	19.37:g.55107251G>A	ENSP00000251372:p.Gly270Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.G270D	ENST00000251372.3	37	c.809	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627279	0.28978	.	.	ENSG00000104974	ENST00000251372	T	0.00686	5.85	2.24	-0.41	0.12374	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.711520	0.01622	N	0.023049	T	0.02688	0.0081	L	0.55017	1.72	0.09310	N	1	D	0.63046	0.992	D	0.67103	0.949	T	0.36040	-0.9764	10	0.66056	D	0.02	.	3.8142	0.08809	0.1701:0.2525:0.5775:0.0	.	270	O75019	LIRA1_HUMAN	D	270	ENSP00000251372:G270D	ENSP00000251372:G270D	G	+	2	0	LILRA1	59799063	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.816000	0.01720	-0.158000	0.11040	0.194000	0.17425	GGC	LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	212	0.00	0	G	NM_006863		55107251	55107251	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	missense	66	62.07	108	SNP	0.000	A
LIPC	3990	genome.wustl.edu	37	15	58830595	58830595	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr15:58830595G>C	ENST00000356113.6	+	4	767	c.152G>C	c.(151-153)aGa>aCa	p.R51T	LIPC_ENST00000299022.5_Missense_Mutation_p.R51T|LIPC_ENST00000433326.2_Missense_Mutation_p.R51T|LIPC_ENST00000414170.3_Missense_Mutation_p.R51T			P11150	LIPC_HUMAN	lipase, hepatic	51					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATGAAGACCAGATTCCTGCTC	0.493																																						dbGAP											0													183.0	179.0	180.0					15																	58830595		2192	4292	6484	-	-	-	SO:0001583	missense	0				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.152G>C	15.37:g.58830595G>C	ENSP00000348425:p.Arg51Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase,pfscan_LipOase_LH2	p.R51T	ENST00000356113.6	37	c.152	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358230	0.24598	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91407	-2.71;-2.71;-2.71;-2.84	5.08	-1.09	0.09904	Lipase, N-terminal (1);	0.677304	0.15235	N	0.273200	D	0.83644	0.5299	L	0.36672	1.1	0.23791	N	0.996835	B;B	0.26902	0.082;0.163	B;B	0.23419	0.045;0.046	T	0.70185	-0.4941	10	0.41790	T	0.15	.	11.1918	0.48690	0.5566:0.0:0.4434:0.0	.	51;51	E7EUK6;P11150	.;LIPC_HUMAN	T	51	ENSP00000348425:R51T;ENSP00000395569:R51T;ENSP00000299022:R51T;ENSP00000395002:R51T	ENSP00000299022:R51T	R	+	2	0	LIPC	56617887	0.133000	0.22466	0.316000	0.25252	0.703000	0.40648	0.162000	0.16501	-0.386000	0.07821	-0.346000	0.07831	AGA	LIPC	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000166035		0.493	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	278	0.00	0	G			58830595	58830595	+1	no_errors	ENST00000299022	ensembl	human	known	69_37n	missense	164	28.70	66	SNP	0.390	C
LYRM1	57149	genome.wustl.edu	37	16	20931494	20931494	+	Silent	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr16:20931494G>A	ENST00000396052.2	+	5	610	c.210G>A	c.(208-210)agG>agA	p.R70R	LYRM1_ENST00000562740.1_5'UTR|LYRM1_ENST00000439021.1_Silent_p.R70R|LYRM1_ENST00000412082.2_5'UTR|LYRM1_ENST00000568663.1_Silent_p.R70R|LYRM1_ENST00000569023.1_Silent_p.R70R|LYRM1_ENST00000219168.4_Silent_p.R70R|LYRM1_ENST00000567954.1_Silent_p.R70R			O43325	LYRM1_HUMAN	LYR motif containing 1	70						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						GCACAGCCAGGATTGAAATTG	0.413																																						dbGAP											0													188.0	157.0	168.0					16																	20931494		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"""LYR motif containing"""	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.210G>A	16.37:g.20931494G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4M5	Silent	SNP	pfam_Complex1_LYR	p.R70	ENST00000396052.2	37	c.210	CCDS10593.1	16																																																																																			LYRM1	-	pfam_Complex1_LYR	ENSG00000102897		0.413	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYRM1	HGNC	protein_coding	OTTHUMT00000254416.1	373	0.00	0	G	NM_020424		20931494	20931494	+1	no_errors	ENST00000219168	ensembl	human	known	69_37n	silent	361	20.44	93	SNP	1.000	A
MAGEL2	54551	genome.wustl.edu	37	15	23890637	23890637	+	Silent	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr15:23890637G>T	ENST00000532292.1	-	1	538	c.444C>A	c.(442-444)atC>atA	p.I148I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	31					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGCAGCAAAGATCATGCGGT	0.602																																						dbGAP											0													36.0	40.0	39.0					15																	23890637		1985	4153	6138	-	-	-	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.444C>A	15.37:g.23890637G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MAGE,pfscan_MAGE	p.I148	ENST00000532292.1	37	c.444		15	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404105	0.42613	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	2.13	0.27403	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41698	-0.9494	4	.	.	.	.	5.321	0.15881	0.1115:0.2089:0.6797:0.0	.	.	.	.	Y	180	.	.	S	-	2	0	MAGEL2	21441730	0.241000	0.23857	0.979000	0.43373	0.959000	0.62525	0.774000	0.26675	0.627000	0.30340	0.655000	0.94253	TCT	MAGEL2	-	NULL	ENSG00000254585		0.602	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	82	0.00	0	G	NM_019066		23890637	23890637	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	silent	123	22.15	35	SNP	0.988	T
MECOM	2122	genome.wustl.edu	37	3	169099127	169099127	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:169099127G>T	ENST00000494292.1	-	2	320	c.223C>A	c.(223-225)Ccc>Acc	p.P75T	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	75					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCAGGAATGGGGATATCATCA	0.478																																						dbGAP											0													133.0	125.0	127.0					3																	169099127		1862	4113	5975	-	-	-	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.223C>A	3.37:g.169099127G>T	ENSP00000417899:p.Pro75Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P75T	ENST00000494292.1	37	c.223		3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166176	0.78339	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T;T	0.55413	0.52;0.52	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000010	T	0.66982	0.2845	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.67260	-0.5715	10	0.72032	D	0.01	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	75;75	Q13465;Q03112-3	MDS1_HUMAN;.	T	75;99	ENSP00000417899:P75T;ENSP00000419537:P99T	ENSP00000419537:P99T	P	-	1	0	MECOM	170581821	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.383000	0.59600	2.822000	0.97130	0.650000	0.86243	CCC	MECOM	-	NULL	ENSG00000085276		0.478	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351517.3	319	0.00	0	G	NM_005241, NM_004991		169099127	169099127	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	missense	238	39.49	156	SNP	1.000	T
MNDA	4332	genome.wustl.edu	37	1	158813903	158813903	+	Silent	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:158813903G>A	ENST00000368141.4	+	4	822	c.561G>A	c.(559-561)tcG>tcA	p.S187S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	187					B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCAACACTTCGTTTACTCCGG	0.488																																						dbGAP											0													263.0	216.0	232.0					1																	158813903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.561G>A	1.37:g.158813903G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.S187	ENST00000368141.4	37	c.561	CCDS1177.1	1																																																																																			MNDA	-	NULL	ENSG00000163563		0.488	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	573	0.17	1	G	NM_002432		158813903	158813903	+1	no_errors	ENST00000368141	ensembl	human	known	69_37n	silent	764	20.81	201	SNP	0.001	A
MYH7B	57644	genome.wustl.edu	37	20	33586607	33586607	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr20:33586607C>A	ENST00000262873.7	+	33	4297	c.4205C>A	c.(4204-4206)gCc>gAc	p.A1402D		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1360						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGGCTGAGGCCCAGGCTGAG	0.667																																						dbGAP											0													24.0	29.0	27.0					20																	33586607		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4205C>A	20.37:g.33586607C>A	ENSP00000262873:p.Ala1402Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1402D	ENST00000262873.7	37	c.4205	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644408	0.87859	.	.	ENSG00000078814	ENST00000262873	D	0.82081	-1.57	4.59	4.59	0.56863	Myosin tail (1);	0.000000	0.37669	N	0.001987	D	0.93148	0.7818	H	0.94886	3.595	0.54753	D	0.999986	D	0.69078	0.997	D	0.65874	0.939	D	0.95154	0.8275	10	0.87932	D	0	.	17.2096	0.86927	0.0:1.0:0.0:0.0	.	1360	A7E2Y1	MYH7B_HUMAN	D	1402	ENSP00000262873:A1402D	ENSP00000262873:A1402D	A	+	2	0	MYH7B	33050268	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.845000	0.69437	2.397000	0.81536	0.561000	0.74099	GCC	MYH7B	-	pfam_Myosin_tail	ENSG00000078814		0.667	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	32	0.00	0	C	NM_020884		33586607	33586607	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	17	43.75	14	SNP	1.000	A
NOX3	50508	genome.wustl.edu	37	6	155750089	155750089	+	Silent	SNP	T	T	A	rs545302024	byFrequency	TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr6:155750089T>A	ENST00000159060.2	-	9	1086	c.984A>T	c.(982-984)ccA>ccT	p.P328P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	328	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.			P -> S (in Ref. 3; AAG15435). {ECO:0000305}.	detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAGATATGGCTGGGCACTGCA	0.567																																						dbGAP											0													80.0	81.0	81.0					6																	155750089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.984A>T	6.37:g.155750089T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.P328	ENST00000159060.2	37	c.984	CCDS5250.1	6																																																																																			NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.567	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	83	0.00	0	T			155750089	155750089	-1	no_errors	ENST00000159060	ensembl	human	known	69_37n	silent	72	25.77	25	SNP	0.000	A
NUPL1	9818	genome.wustl.edu	37	13	25882072	25882072	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr13:25882072G>A	ENST00000381736.3	+	2	486	c.236G>A	c.(235-237)gGa>gAa	p.G79E	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.G79E|NUPL1_ENST00000381718.3_Missense_Mutation_p.G79E	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	79	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTCACTCTAGGAGGAACAAAT	0.443																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	dbGAP											0													67.0	69.0	68.0					13																	25882072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.236G>A	13.37:g.25882072G>A	ENSP00000371155:p.Gly79Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.G79E	ENST00000381736.3	37	c.236	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159403	0.57368	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.52526	1.36;1.34;1.3;1.31;0.66	5.15	5.15	0.70609	.	0.096976	0.64402	D	0.000001	T	0.67841	0.2936	M	0.62723	1.935	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70887	-0.4750	10	0.72032	D	0.01	-2.5254	18.6361	0.91379	0.0:0.0:1.0:0.0	.	79;79;79	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	E	79;79;56;79;79;79;38	ENSP00000371155:G79E;ENSP00000418555:G79E;ENSP00000371137:G79E;ENSP00000371166:G79E;ENSP00000408147:G38E	ENSP00000318459:G56E	G	+	2	0	NUPL1	24780072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.372000	0.73123	2.393000	0.81446	0.655000	0.94253	GGA	NUPL1	-	NULL	ENSG00000139496		0.443	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	257	0.00	0	G			25882072	25882072	+1	no_errors	ENST00000381736	ensembl	human	known	69_37n	missense	119	36.84	70	SNP	1.000	A
OR3A2	4995	genome.wustl.edu	37	17	3181599	3181599	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr17:3181599C>A	ENST00000408891.2	-	1	669	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	211					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						ATGAAACCCACAGCAAAGAGC	0.547																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	dbGAP											0													95.0	87.0	90.0					17																	3181599		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.631G>T	17.37:g.3181599C>A	ENSP00000386180:p.Val211Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V211L	ENST00000408891.2	37	c.631	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.211749	0.01555	.	.	ENSG00000221882	ENST00000408891	T	0.00130	8.69	4.9	-6.17	0.02091	GPCR, rhodopsin-like superfamily (1);	1.128690	0.06793	N	0.787399	T	0.00073	0.0002	N	0.13235	0.315	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.02654	-1.1128	10	0.17369	T	0.5	0.4261	3.604	0.08035	0.09:0.2631:0.3799:0.267	.	211	P47893	OR3A2_HUMAN	L	211	ENSP00000386180:V211L	ENSP00000386180:V211L	V	-	1	0	OR3A2	3128349	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-3.930000	0.00332	-0.763000	0.04658	-0.311000	0.09066	GTG	OR3A2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221882		0.547	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	204	0.49	1	C			3181599	3181599	-1	no_errors	ENST00000408891	ensembl	human	known	69_37n	missense	53	71.35	132	SNP	0.000	A
OR5M11	219487	genome.wustl.edu	37	11	56310715	56310715	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr11:56310715T>G	ENST00000528616.2	-	1	42	c.19A>C	c.(19-21)Agt>Cgt	p.S7R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GTGATTGCACTGCCATTTGTG	0.403																																						dbGAP											0													69.0	69.0	69.0					11																	56310715		1937	4138	6075	-	-	-	SO:0001583	missense	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.19A>C	11.37:g.56310715T>G	ENSP00000432417:p.Ser7Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNL5|B2RNL7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S7R	ENST00000528616.2	37	c.19	CCDS53629.1	11	.	.	.	.	.	.	.	.	.	.	T	9.260	1.042933	0.19748	.	.	ENSG00000255223	ENST00000528616	T	0.01474	4.85	5.1	5.1	0.69264	.	.	.	.	.	T	0.04497	0.0123	M	0.81614	2.55	0.09310	N	1	B	0.27068	0.167	B	0.31442	0.13	T	0.14090	-1.0485	9	0.87932	D	0	.	9.3964	0.38406	0.1591:0.0:0.0:0.8409	.	7	Q96RB7	OR5MB_HUMAN	R	7	ENSP00000432417:S7R	ENSP00000432417:S7R	S	-	1	0	OR5M11	56067291	0.001000	0.12720	0.128000	0.21923	0.448000	0.32197	0.977000	0.29475	2.170000	0.68504	0.514000	0.50259	AGT	OR5M11	-	NULL	ENSG00000255223		0.403	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	61	0.00	0	T	NM_001005245		56310715	56310715	-1	no_errors	ENST00000528616	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	0.046	G
PCDH15	65217	genome.wustl.edu	37	10	55582115	55582115	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr10:55582115G>T	ENST00000320301.6	-	33	5765	c.5371C>A	c.(5371-5373)Cct>Act	p.P1791T	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1788T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1751T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1793T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1768T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1722T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1791					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTaggaggaggaagaggaaga	0.512										HNSCC(58;0.16)																												dbGAP											0													25.0	23.0	23.0					10																	55582115		2200	4295	6495	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5371C>A	10.37:g.55582115G>T	ENSP00000322604:p.Pro1791Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1791T	ENST00000320301.6	37	c.5371	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583984	0.13749	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57907	0.4;0.37;0.42;0.46;0.46;0.46	2.44	-3.15	0.05233	.	.	.	.	.	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.24186	0.099;0.099;0.099;0.099;0.099;0.099;0.099;0.099	B;B;B;B;B;B;B;B	0.22753	0.041;0.041;0.041;0.041;0.041;0.041;0.041;0.041	T	0.30534	-0.9975	9	0.02654	T	1	.	4.6076	0.12385	0.4074:0.1574:0.4352:0.0	.	1768;1791;1793;1798;1722;1751;1788;1791	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	T	1751;1793;1768;1791;1788;1798;1722	ENSP00000378820:P1751T;ENSP00000354950:P1793T;ENSP00000378821:P1768T;ENSP00000322604:P1791T;ENSP00000378818:P1788T;ENSP00000412628:P1722T	ENSP00000322604:P1791T	P	-	1	0	PCDH15	55252121	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.310000	0.19356	-0.818000	0.04329	-0.258000	0.10820	CCT	PCDH15	-	NULL	ENSG00000150275		0.512	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	273	0.00	0	G	NM_033056		55582115	55582115	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	437	11.52	57	SNP	0.036	T
PCLO	27445	genome.wustl.edu	37	7	82544073	82544073	+	Missense_Mutation	SNP	C	C	A	rs543587611		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:82544073C>A	ENST00000333891.9	-	7	13566	c.13229G>T	c.(13228-13230)cGg>cTg	p.R4410L	PCLO_ENST00000423517.2_Missense_Mutation_p.R4410L|PCLO_ENST00000437081.1_Missense_Mutation_p.R1130L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTCGAGTCCGTGATTCTTC	0.498																																						dbGAP											0													89.0	89.0	89.0					7																	82544073		2067	4196	6263	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13229G>T	7.37:g.82544073C>A	ENSP00000334319:p.Arg4410Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.R4410L	ENST00000333891.9	37	c.13229	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020806	0.75275	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.33216	1.42;1.43	5.75	5.75	0.90469	.	.	.	.	.	T	0.59542	0.2201	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.61103	-0.7130	9	0.87932	D	0	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	4341;4410;4410	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	4410;4410;1130	ENSP00000334319:R4410L;ENSP00000388393:R4410L	ENSP00000334319:R4410L	R	-	2	0	PCLO	82382009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.686000	0.61700	2.725000	0.93324	0.655000	0.94253	CGG	PCLO	-	NULL	ENSG00000186472		0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	223	0.45	1	C	NM_014510		82544073	82544073	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	155	29.22	64	SNP	1.000	A
PCLO	27445	genome.wustl.edu	37	7	82545704	82545704	+	Silent	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:82545704C>T	ENST00000333891.9	-	7	11935	c.11598G>A	c.(11596-11598)caG>caA	p.Q3866Q	PCLO_ENST00000423517.2_Silent_p.Q3866Q|PCLO_ENST00000437081.1_Silent_p.Q586Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTGGTATAAACTGGCTGAATT	0.473																																						dbGAP											0													470.0	465.0	466.0					7																	82545704		2025	4185	6210	-	-	-	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11598G>A	7.37:g.82545704C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.Q3866	ENST00000333891.9	37	c.11598	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	867	0.00	0	C	NM_014510		82545704	82545704	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	silent	796	29.84	339	SNP	0.995	T
PDE4D	5144	genome.wustl.edu	37	5	58273034	58273034	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr5:58273034T>C	ENST00000340635.6	-	12	1866	c.1691A>G	c.(1690-1692)aAa>aGa	p.K564R	PDE4D_ENST00000317118.8_Missense_Mutation_p.K273R|PDE4D_ENST00000503258.1_Missense_Mutation_p.K434R|PDE4D_ENST00000507116.1_Missense_Mutation_p.K500R|PDE4D_ENST00000546160.1_Missense_Mutation_p.K503R|PDE4D_ENST00000405755.2_Missense_Mutation_p.K442R|PDE4D_ENST00000358923.6_Missense_Mutation_p.K262R|PDE4D_ENST00000502484.2_Missense_Mutation_p.K503R|PDE4D_ENST00000360047.5_Missense_Mutation_p.K428R	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	564					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AATGACCATTTTCCTTAAAGA	0.338																																						dbGAP											0													132.0	124.0	126.0					5																	58273034		1826	4098	5924	-	-	-	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1691A>G	5.37:g.58273034T>C	ENSP00000345502:p.Lys564Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.K564R	ENST00000340635.6	37	c.1691	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946331	0.73672	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.56	5.56	0.83823	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	L	0.31752	0.955	0.80722	D	1	P;D;P;B;B;P;B;B	0.58268	0.945;0.982;0.945;0.002;0.002;0.945;0.008;0.003	D;D;D;B;B;D;B;B	0.72075	0.942;0.976;0.942;0.004;0.004;0.942;0.019;0.009	T	0.75039	-0.3458	10	0.36615	T	0.2	.	15.8606	0.79017	0.0:0.0:0.0:1.0	.	503;564;500;427;442;434;339;273	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	R	564;433;428;500;262;273;434;442;503;503;262	ENSP00000345502:K564R;ENSP00000353152:K428R;ENSP00000424852:K500R;ENSP00000351800:K262R;ENSP00000321739:K273R;ENSP00000425605:K434R;ENSP00000384806:K442R;ENSP00000423094:K503R;ENSP00000442734:K503R;ENSP00000421013:K262R	ENSP00000321739:K273R	K	-	2	0	PDE4D	58308791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.330000	0.79161	0.533000	0.62120	AAA	PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.338	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	398	0.00	0	T			58273034	58273034	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	234	13.01	35	SNP	1.000	C
PDHX	8050	genome.wustl.edu	37	11	34981989	34981989	+	Missense_Mutation	SNP	C	C	G	rs150572021		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr11:34981989C>G	ENST00000227868.4	+	5	649	c.565C>G	c.(565-567)Cgc>Ggc	p.R189G	PDHX_ENST00000448838.3_Missense_Mutation_p.R174G|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	189	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TCCAGCTGCCCGCAATATTCT	0.383																																						dbGAP											0													77.0	80.0	79.0					11																	34981989		2202	4298	6500	-	-	-	SO:0001583	missense	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.565C>G	11.37:g.34981989C>G	ENSP00000227868:p.Arg189Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.R189G	ENST00000227868.4	37	c.565	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949404	0.73787	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.30714	2.44;2.11;1.52;1.57	6.03	5.13	0.70059	E3 binding (3);	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.78940	-0.2006	10	0.87932	D	0	-7.2336	14.9606	0.71153	0.0:0.9313:0.0:0.0687	.	174;189	E9PB14;O00330	.;ODPX_HUMAN	G	129;174;189;162	ENSP00000431281:R129G;ENSP00000389404:R174G;ENSP00000227868:R189G;ENSP00000432277:R162G	ENSP00000227868:R189G	R	+	1	0	PDHX	34938565	1.000000	0.71417	0.943000	0.38184	0.976000	0.68499	3.061000	0.49963	1.561000	0.49584	-0.136000	0.14681	CGC	PDHX	-	pfam_E3-bd,superfamily_E3-bd	ENSG00000110435		0.383	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	433	0.23	1	C	NM_003477		34981989	34981989	+1	no_errors	ENST00000227868	ensembl	human	known	69_37n	missense	106	64.24	194	SNP	0.993	G
PIP4K2C	79837	genome.wustl.edu	37	12	57988969	57988969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr12:57988969delC	ENST00000354947.5	+	3	349	c.333delC	c.(331-333)ctcfs	p.L111fs	PIP4K2C_ENST00000422156.3_Frame_Shift_Del_p.L111fs|PIP4K2C_ENST00000550465.1_Frame_Shift_Del_p.L93fs|PIP4K2C_ENST00000540759.2_Frame_Shift_Del_p.L111fs			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	111	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCAGGAACCTCCGTGATCGAT	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											186.0	193.0	190.0					12																	57988969		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.333delC	12.37:g.57988969delC	ENSP00000347032:p.Leu111fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL3|B4DM11|B4DY44|Q9H6N2	Frame_Shift_Del	DEL	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R112fs	ENST00000354947.5	37	c.333	CCDS8946.1	12																																																																																			PIP4K2C	-	smart_PInositol-4P-5-kinase_core_sub	ENSG00000166908		0.438	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2C	HGNC	protein_coding	OTTHUMT00000407644.1	334	0.00	0	C	NM_024779		57988969	57988969	+1	no_errors	ENST00000354947	ensembl	human	known	69_37n	frame_shift_del	303	26.57	110	DEL	0.988	-
PRDM12	59335	genome.wustl.edu	37	9	133543691	133543691	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr9:133543691G>C	ENST00000253008.2	+	3	621	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	187	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TCTTCTACAAGGCCATTGAGG	0.592																																						dbGAP											0													201.0	152.0	169.0					9																	133543691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.561G>C	9.37:g.133543691G>C	ENSP00000253008:p.Lys187Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM12,pfscan_SET_dom,pfscan_Znf_C2H2	p.K187N	ENST00000253008.2	37	c.561	CCDS6934.1	9	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010579	0.54361	.	.	ENSG00000130711	ENST00000253008	T	0.75367	-0.93	5.21	3.34	0.38264	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	L	0.59436	1.845	0.47905	D	0.99954	D	0.89917	1.0	D	0.81914	0.995	T	0.76626	-0.2890	10	0.39692	T	0.17	-39.8147	8.0323	0.30472	0.336:0.0:0.664:0.0	.	187	Q9H4Q4	PRD12_HUMAN	N	187	ENSP00000253008:K187N	ENSP00000253008:K187N	K	+	3	2	PRDM12	132533512	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.480000	0.45206	0.562000	0.29204	-0.136000	0.14681	AAG	PRDM12	-	smart_SET_dom,pirsf_Znf_PRDM12,pfscan_SET_dom	ENSG00000130711		0.592	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM12	HGNC	protein_coding	OTTHUMT00000054664.1	171	0.58	1	G	NM_021619		133543691	133543691	+1	no_errors	ENST00000253008	ensembl	human	known	69_37n	missense	53	56.45	70	SNP	1.000	C
PTPN12	5782	genome.wustl.edu	37	7	77200466	77200466	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:77200466A>C	ENST00000248594.6	+	2	443	c.171A>C	c.(169-171)gaA>gaC	p.E57D	PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	57	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AAAAAGAAGAAAATGTTAAAA	0.308																																						dbGAP											0													48.0	49.0	49.0					7																	77200466		2201	4294	6495	-	-	-	SO:0001583	missense	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.171A>C	7.37:g.77200466A>C	ENSP00000248594:p.Glu57Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E57D	ENST00000248594.6	37	c.171	CCDS5592.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.98|13.98	2.398414|2.398414	0.42512|0.42512	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	T|.	0.33438|.	1.41|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67748|0.67748	0.2926|0.2926	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P|.	0.43750|.	0.816|.	B|.	0.42087|.	0.375|.	T|T	0.66027|0.66027	-0.6025|-0.6025	10|5	0.42905|.	T|.	0.14|.	.|.	15.2311|15.2311	0.73390|0.73390	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	57|.	Q05209|.	PTN12_HUMAN|.	D|T	57|20	ENSP00000248594:E57D|.	ENSP00000248594:E57D|.	E|K	+|+	3|2	2|0	PTPN12|PTPN12	77038402|77038402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.254000|1.254000	0.32897|0.32897	2.058000|2.058000	0.61347|0.61347	0.377000|0.377000	0.23210|0.23210	GAA|AAA	PTPN12	-	smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000127947		0.308	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	297	0.00	0	A			77200466	77200466	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	missense	128	52.94	144	SNP	1.000	C
ROBO4	54538	genome.wustl.edu	37	11	124765517	124765517	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr11:124765517C>A	ENST00000306534.3	-	6	1357	c.872G>T	c.(871-873)gGa>gTa	p.G291V	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Missense_Mutation_p.G146V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	291	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TCCCTGGCCTCCCGGGGCAGT	0.652																																						dbGAP											0													34.0	42.0	40.0					11																	124765517		2186	4275	6461	-	-	-	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.872G>T	11.37:g.124765517C>A	ENSP00000304945:p.Gly291Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G291V	ENST00000306534.3	37	c.872	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334211	0.41297	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.52526	0.66;0.66	4.72	3.81	0.43845	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.197216	0.25472	N	0.030432	T	0.53883	0.1824	L	0.53249	1.67	0.23841	N	0.996693	D;D	0.64830	0.96;0.994	P;P	0.57911	0.643;0.829	T	0.42032	-0.9475	10	0.28530	T	0.3	.	9.8681	0.41157	0.0:0.9049:0.0:0.0951	.	181;291	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	V	291;181;146	ENSP00000304945:G291V;ENSP00000437129:G146V	ENSP00000304945:G291V	G	-	2	0	ROBO4	124270727	0.036000	0.19791	0.101000	0.21167	0.236000	0.25371	3.104000	0.50306	1.218000	0.43458	0.561000	0.74099	GGA	ROBO4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154133		0.652	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	17	0.00	0	C	NM_019055		124765517	124765517	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.132	A
RPN1	6184	genome.wustl.edu	37	3	128341012	128341012	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:128341012C>G	ENST00000296255.3	-	9	1684	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	RPN1_ENST00000497289.1_Missense_Mutation_p.D374H	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	546					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CTTACTCTGTCGCACAGATCA	0.562			T	EVI1	AML																																	dbGAP		Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													97.0	79.0	85.0					3																	128341012		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1636G>C	3.37:g.128341012C>G	ENSP00000296255:p.Asp546His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.D546H	ENST00000296255.3	37	c.1636	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402386	0.83230	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.43	5.43	0.79202	.	0.096661	0.64402	D	0.000001	T	0.79405	0.4440	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.81568	-0.0873	9	0.87932	D	0	-11.6201	19.2668	0.93990	0.0:1.0:0.0:0.0	.	546	P04843	RPN1_HUMAN	H	546;374;317;520	.	ENSP00000296255:D546H	D	-	1	0	RPN1	129823702	1.000000	0.71417	0.957000	0.39632	0.808000	0.45660	7.239000	0.78182	2.547000	0.85894	0.591000	0.81541	GAC	RPN1	-	NULL	ENSG00000163902		0.562	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	142	0.00	0	C	NM_002950		128341012	128341012	-1	no_errors	ENST00000296255	ensembl	human	known	69_37n	missense	105	43.55	81	SNP	1.000	G
RPS6KB1	6198	genome.wustl.edu	37	17	58011559	58011559	+	Silent	SNP	A	A	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr17:58011559A>G	ENST00000225577.4	+	8	738	c.717A>G	c.(715-717)ctA>ctG	p.L239L	RPS6KB1_ENST00000393021.3_Silent_p.L186L|RPS6KB1_ENST00000406116.3_Silent_p.L239L|RPS6KB1_ENST00000443572.2_Silent_p.L216L	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTTGGACTATGCAAAGAAT	0.343																																						dbGAP											0													129.0	123.0	125.0					17																	58011559		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.717A>G	17.37:g.58011559A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.L239	ENST00000225577.4	37	c.717	CCDS11621.1	17																																																																																			RPS6KB1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000108443		0.343	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	317	0.00	0	A	NM_003161		58011559	58011559	+1	no_errors	ENST00000225577	ensembl	human	known	69_37n	silent	67	80.41	275	SNP	1.000	G
SCAF4	57466	genome.wustl.edu	37	21	33076192	33076192	+	Silent	SNP	A	A	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr21:33076192A>G	ENST00000286835.7	-	4	589	c.207T>C	c.(205-207)atT>atC	p.I69I	SCAF4_ENST00000434667.3_Silent_p.I54I|SCAF4_ENST00000399804.1_Silent_p.I69I	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	69	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACTGTCGCACAATTGAGTCAA	0.358																																						dbGAP											0													94.0	89.0	91.0					21																	33076192		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.207T>C	21.37:g.33076192A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.I69	ENST00000286835.7	37	c.207	CCDS33537.1	21																																																																																			SCAF4	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000156304		0.358	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	307	0.00	0	A	XM_047889		33076192	33076192	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	silent	214	37.61	129	SNP	1.000	G
SIDT2	51092	genome.wustl.edu	37	11	117062673	117062673	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr11:117062673C>A	ENST00000324225.4	+	19	2346	c.1815C>A	c.(1813-1815)agC>agA	p.S605R	SIDT2_ENST00000532062.1_5'Flank|SIDT2_ENST00000431081.2_Missense_Mutation_p.S602R	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	605					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCAACGCCAGCGCCTACAGTG	0.572																																						dbGAP											0													181.0	163.0	169.0					11																	117062673		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.1815C>A	11.37:g.117062673C>A	ENSP00000314023:p.Ser605Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.S626R	ENST00000324225.4	37	c.1878	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115851	0.37339	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081	T;T;T	0.24908	1.83;1.83;1.83	4.91	-8.01	0.01122	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	L	0.51422	1.61	0.49051	D	0.999745	P;B;B;D	0.63880	0.756;0.036;0.286;0.993	P;B;B;D	0.72982	0.542;0.038;0.441;0.979	T	0.60021	-0.7344	10	0.31617	T	0.26	-14.3003	19.3328	0.94299	0.0:0.6588:0.0:0.3412	.	626;602;605;626	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	R	605;626;602	ENSP00000314023:S605R;ENSP00000278951:S626R;ENSP00000399635:S602R	ENSP00000278951:S626R	S	+	3	2	SIDT2	116567883	0.000000	0.05858	0.695000	0.30226	0.951000	0.60555	-2.509000	0.00960	-1.944000	0.01038	-1.063000	0.02288	AGC	SIDT2	-	NULL	ENSG00000149577		0.572	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	83	0.00	0	C	NM_015996		117062673	117062673	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	missense	112	34.12	58	SNP	0.381	A
SPTBN1	6711	genome.wustl.edu	37	2	54858364	54858364	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr2:54858364G>C	ENST00000356805.4	+	16	3461	c.3180G>C	c.(3178-3180)gaG>gaC	p.E1060D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1047D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1060					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCTGGGAGAGGCCAGCAAGC	0.627																																						dbGAP											0													67.0	78.0	74.0					2																	54858364		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3180G>C	2.37:g.54858364G>C	ENSP00000349259:p.Glu1060Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1060D	ENST00000356805.4	37	c.3180	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663080	0.67700	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54675	0.56;0.56	5.56	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.48362	1.52	0.44985	D	0.998002	B;P	0.44195	0.264;0.828	B;P	0.53912	0.263;0.737	T	0.58476	-0.7630	10	0.54805	T	0.06	.	12.0855	0.53695	0.2127:0.0:0.7873:0.0	.	1047;1060	Q01082-3;Q01082	.;SPTB2_HUMAN	D	1060;1047	ENSP00000349259:E1060D;ENSP00000334156:E1047D	ENSP00000334156:E1047D	E	+	3	2	SPTBN1	54711868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.198000	0.42705	0.721000	0.32231	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat	ENSG00000115306		0.627	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	67	0.00	0	G			54858364	54858364	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	missense	70	26.80	26	SNP	1.000	C
SSTR5	6755	genome.wustl.edu	37	16	1129033	1129033	+	Silent	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr16:1129033G>C	ENST00000293897.4	+	1	253	c.165G>C	c.(163-165)ctG>ctC	p.L55L	SSTR5_ENST00000397547.2_Silent_p.L55L|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Silent_p.L55L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	55					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CGGCCGGGCTGGGCGGGAACA	0.672																																						dbGAP											0													62.0	45.0	51.0					16																	1129033		2184	4288	6472	-	-	-	SO:0001819	synonymous_variant	0			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.165G>C	16.37:g.1129033G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P34988|Q541E0|Q9UJI5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.L55	ENST00000293897.4	37	c.165	CCDS10429.1	16																																																																																			SSTR5	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000162009		0.672	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	30	0.00	0	G			1129033	1129033	+1	no_errors	ENST00000293897	ensembl	human	known	69_37n	silent	17	54.05	20	SNP	0.993	C
STAB1	23166	genome.wustl.edu	37	3	52548172	52548172	+	Silent	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr3:52548172C>T	ENST00000321725.6	+	33	3565	c.3489C>T	c.(3487-3489)taC>taT	p.Y1163Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1163	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCACTGCCTACACCATCTTTG	0.617																																						dbGAP											0													78.0	80.0	79.0					3																	52548172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3489C>T	3.37:g.52548172C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.Y1163	ENST00000321725.6	37	c.3489	CCDS33768.1	3																																																																																			STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	77	0.00	0	C	NM_015136		52548172	52548172	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	silent	20	69.70	46	SNP	0.994	T
TP53	7157	genome.wustl.edu	37	17	7579368	7579368	+	Missense_Mutation	SNP	A	A	C	rs368771578		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr17:7579368A>C	ENST00000269305.4	-	4	508	c.319T>G	c.(319-321)Tac>Gac	p.Y107D	TP53_ENST00000413465.2_Missense_Mutation_p.Y107D|TP53_ENST00000420246.2_Missense_Mutation_p.Y107D|TP53_ENST00000445888.2_Missense_Mutation_p.Y107D|TP53_ENST00000359597.4_Missense_Mutation_p.Y107D|TP53_ENST00000455263.2_Missense_Mutation_p.Y107D|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	107	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Y -> C (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> H (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y107D(13)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107Q(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGAAACCGTAGCTGCCCTGG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	39	Substitution - Missense(14)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(10)|upper_aerodigestive_tract(4)|bone(4)|breast(4)|lung(3)|ovary(3)|prostate(3)|large_intestine(2)|central_nervous_system(2)|liver(2)|stomach(1)|urinary_tract(1)											59.0	58.0	58.0					17																	7579368		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.319T>G	17.37:g.7579368A>C	ENSP00000269305:p.Tyr107Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y107D	ENST00000269305.4	37	c.319	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975724	0.53720	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99830	-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.193654	0.46145	D	0.000312	D	0.99785	0.9910	M	0.85945	2.785	0.48288	D	0.999627	D;D;D;D;D;D;D	0.89917	0.999;0.996;0.993;1.0;0.99;0.982;0.987	D;D;D;D;D;D;P	0.77557	0.972;0.973;0.968;0.99;0.965;0.965;0.835	D	0.96895	0.9656	10	0.87932	D	0	-9.5569	12.5363	0.56144	1.0:0.0:0.0:0.0	.	68;107;107;107;107;107;107	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	107	ENSP00000410739:Y107D;ENSP00000352610:Y107D;ENSP00000269305:Y107D;ENSP00000398846:Y107D;ENSP00000391127:Y107D;ENSP00000391478:Y107D;ENSP00000424104:Y107D;ENSP00000426252:Y107D	ENSP00000269305:Y107D	Y	-	1	0	TP53	7520093	0.962000	0.33011	0.725000	0.30721	0.622000	0.37654	3.753000	0.55180	2.125000	0.65367	0.533000	0.62120	TAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	68	0.00	0	A	NM_000546		7579368	7579368	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	17	60.47	26	SNP	0.906	C
STAT5B	6777	genome.wustl.edu	37	17	40364190	40364190	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr17:40364190C>G	ENST00000293328.3	-	13	1660	c.1492G>C	c.(1492-1494)Gtg>Ctg	p.V498L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	498					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTGTCAGGCACGGCAAATGGC	0.527																																						dbGAP											0													76.0	69.0	72.0					17																	40364190		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1492G>C	17.37:g.40364190C>G	ENSP00000293328:p.Val498Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V498L	ENST00000293328.3	37	c.1492	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.256334	0.95336	.	.	ENSG00000173757	ENST00000293328	D	0.88431	-2.38	5.42	5.42	0.78866	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.116409	0.64402	D	0.000013	D	0.94883	0.8346	M	0.84511	2.7	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	D	0.94930	0.8081	10	0.66056	D	0.02	-14.5673	19.4067	0.94649	0.0:1.0:0.0:0.0	.	498	P51692	STA5B_HUMAN	L	498	ENSP00000293328:V498L	ENSP00000293328:V498L	V	-	1	0	STAT5B	37617716	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.826000	0.97356	0.491000	0.48974	GTG	STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000173757		0.527	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	125	0.00	0	C	NM_012448		40364190	40364190	-1	no_errors	ENST00000293328	ensembl	human	known	69_37n	missense	90	26.23	32	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179416608	179416608	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr2:179416608C>T	ENST00000591111.1	-	285	86320	c.86096G>A	c.(86095-86097)gGc>gAc	p.G28699D	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21467D|TTN_ENST00000342992.6_Missense_Mutation_p.G27772D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21400D|TTN_ENST00000460472.2_Missense_Mutation_p.G21275D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G30340D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28699	Fibronectin type-III 109. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTGACATGCCATCAGAAGT	0.428																																						dbGAP											0													149.0	154.0	153.0					2																	179416608		2015	4178	6193	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86096G>A	2.37:g.179416608C>T	ENSP00000465570:p.Gly28699Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G27772D	ENST00000591111.1	37	c.83315		2	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603756	0.66445	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68403	0.2997	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69312	-0.5178	9	0.87932	D	0	.	19.9694	0.97278	0.0:1.0:0.0:0.0	.	21275;21400;21467;28699	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	27772;21275;21467;21400;21272	ENSP00000343764:G27772D;ENSP00000434586:G21275D;ENSP00000340554:G21467D;ENSP00000352154:G21400D	ENSP00000340554:G21467D	G	-	2	0	TTN	179124854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.719000	0.93026	0.655000	0.94253	GGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	296	0.00	0	C	NM_133378		179416608	179416608	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	196	36.98	115	SNP	1.000	T
UMOD	7369	genome.wustl.edu	37	16	20346808	20346808	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr16:20346808G>C	ENST00000570689.1	-	10	2003	c.1857C>G	c.(1855-1857)agC>agG	p.S619R	UMOD_ENST00000302509.4_Missense_Mutation_p.S619R|UMOD_ENST00000396142.2_Missense_Mutation_p.S619R|UMOD_ENST00000396138.4_Missense_Mutation_p.S668R|UMOD_ENST00000424589.1_Missense_Mutation_p.S652R|UMOD_ENST00000396134.2_Missense_Mutation_p.S652R|UMOD_ENST00000570331.1_5'UTR			P07911	UROM_HUMAN	uromodulin	619					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTTACCCAAGCTGCTAAAAG	0.463																																						dbGAP											0													97.0	88.0	91.0					16																	20346808		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1857C>G	16.37:g.20346808G>C	ENSP00000460548:p.Ser619Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.S652R	ENST00000570689.1	37	c.1956	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	G	14.59	2.582151	0.46006	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.81078	-1.45;-1.45;-1.44;-1.44	3.62	1.67	0.24075	.	0.649859	0.14356	N	0.324749	T	0.70937	0.3281	L	0.47716	1.5	0.09310	N	0.999999	B;B	0.18461	0.028;0.015	B;B	0.11329	0.006;0.004	T	0.62282	-0.6887	10	0.62326	D	0.03	-10.5196	5.6069	0.17385	0.2473:0.0:0.7527:0.0	.	652;619	E9PEA4;P07911	.;UROM_HUMAN	R	619;652;652;619;597;619	ENSP00000379438:S652R;ENSP00000416346:S652R;ENSP00000306279:S619R;ENSP00000379446:S619R	ENSP00000306279:S619R	S	-	3	2	UMOD	20254309	0.008000	0.16893	0.191000	0.23289	0.775000	0.43874	1.294000	0.33365	0.505000	0.28104	0.563000	0.77884	AGC	UMOD	-	NULL	ENSG00000169344		0.463	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	243	0.41	1	G			20346808	20346808	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	missense	146	36.80	85	SNP	0.276	C
USO1	8615	genome.wustl.edu	37	4	76722346	76722346	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr4:76722346G>C	ENST00000538159.1	+	18	2006	c.2006G>C	c.(2005-2007)cGa>cCa	p.R669P	USO1_ENST00000514213.2_Missense_Mutation_p.R645P			O60763	USO1_HUMAN	USO1 vesicle transport factor	660					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R588Q(1)|p.R669Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATATGATTCGAGAGCAGGTA	0.338																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											77.0	70.0	72.0					4																	76722346		1847	4090	5937	-	-	-	SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2006G>C	4.37:g.76722346G>C	ENSP00000440586:p.Arg669Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.R669P	ENST00000538159.1	37	c.2006		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.096589|4.096589	0.76870|0.76870	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T;T	.|0.67345	.|-0.26;-0.26	5.61|5.61	4.77|4.77	0.60923|0.60923	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80884|0.80884	0.4709|0.4709	M|M	0.76170|0.76170	2.325|2.325	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.82319|0.82319	-0.0516|-0.0516	5|10	.|0.52906	.|T	.|0.07	.|.	14.5682|14.5682	0.68194|0.68194	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|669;660	.|F5GYR8;O60763	.|.;USO1_HUMAN	Q|P	336|495;669;645;588	.|ENSP00000440586:R669P;ENSP00000444850:R645P	.|ENSP00000264904:R588P	E|R	+|+	1|2	0|0	USO1|USO1	76941370|76941370	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	7.386000|7.386000	0.79775|0.79775	1.378000|1.378000	0.46305|0.46305	0.563000|0.563000	0.77884|0.77884	GAG|CGA	USO1	-	superfamily_ARM-type_fold	ENSG00000138768		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		341	0.29	1	G	NM_003715		76722346	76722346	+1	no_errors	ENST00000538159	ensembl	human	known	69_37n	missense	183	42.99	138	SNP	1.000	C
WBSCR27	155368	genome.wustl.edu	37	7	73249185	73249185	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:73249185C>A	ENST00000297873.4	-	6	675	c.626G>T	c.(625-627)aGc>aTc	p.S209I		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	209										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGGTAGCCAGCTCCCAGCGGT	0.637																																						dbGAP											0													65.0	61.0	63.0					7																	73249185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.626G>T	7.37:g.73249185C>A	ENSP00000297873:p.Ser209Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase	p.S209I	ENST00000297873.4	37	c.626	CCDS5561.1	7	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238709	0.39598	.	.	ENSG00000165171	ENST00000297873	T	0.68903	-0.36	5.25	1.76	0.24704	.	0.311803	0.22661	N	0.057192	T	0.43612	0.1255	N	0.14661	0.345	0.24507	N	0.994225	P	0.41041	0.736	B	0.38712	0.28	T	0.35798	-0.9774	10	0.59425	D	0.04	-5.6737	5.2912	0.15727	0.0:0.369:0.0:0.631	.	209	Q8N6F8	WBS27_HUMAN	I	209	ENSP00000297873:S209I	ENSP00000297873:S209I	S	-	2	0	WBSCR27	72887121	0.997000	0.39634	1.000000	0.80357	0.714000	0.41099	0.299000	0.19138	0.503000	0.28060	0.549000	0.68633	AGC	WBSCR27	-	NULL	ENSG00000165171		0.637	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR27	HGNC	protein_coding	OTTHUMT00000252312.1	31	0.00	0	C	NM_152559		73249185	73249185	-1	no_errors	ENST00000297873	ensembl	human	known	69_37n	missense	28	40.82	20	SNP	1.000	A
CFAP57	149465	genome.wustl.edu	37	1	43675636	43675636	+	Intron	SNP	C	C	A	rs144649635		TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr1:43675636C>A	ENST00000372492.4	+	11	2253				WDR65_ENST00000528956.1_Missense_Mutation_p.R660S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN												NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCTGCTACGTGCCTTGTT	0.488																																						dbGAP											0													248.0	224.0	232.0					1																	43675636		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0																														ENST00000372492.4:c.1929+49C>A	1.37:g.43675636C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R660S	ENST00000372492.4	37	c.1978		1	.	.	.	.	.	.	.	.	.	.	c	6.432	0.447927	0.12223	.	.	ENSG00000243710	ENST00000528956	T	0.45668	0.89	5.27	-3.72	0.04411	.	30.336000	0.00166	N	0.000003	T	0.22003	0.0530	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.05162	-1.0902	8	.	.	.	.	2.1492	0.03795	0.1243:0.3227:0.1218:0.4312	.	660	Q96MR6-2	.	S	660	ENSP00000435310:R660S	.	R	+	1	0	WDR65	43448223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.979000	0.03774	-0.814000	0.04352	-0.155000	0.13514	CGT	WDR65	-	NULL	ENSG00000243710		0.488	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	701	0.00	0	C			43675636	43675636	+1	no_errors	ENST00000528956	ensembl	human	known	69_37n	missense	651	22.04	184	SNP	0.000	A
WDR7	23335	genome.wustl.edu	37	18	54362267	54362267	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr18:54362267G>T	ENST00000254442.3	+	11	1406	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	WDR7_ENST00000357574.3_Missense_Mutation_p.V399L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	399					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCAGCTGAGTGTGATTCCCAA	0.413																																						dbGAP											0													115.0	106.0	109.0					18																	54362267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1195G>T	18.37:g.54362267G>T	ENSP00000254442:p.Val399Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V399L	ENST00000254442.3	37	c.1195	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674317	0.29693	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.04049	3.72;3.72	5.68	3.71	0.42584	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.206986	0.42053	D	0.000767	T	0.03263	0.0095	N	0.21448	0.665	0.44117	D	0.996892	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48352	-0.9043	10	0.21014	T	0.42	.	7.7836	0.29078	0.0847:0.0:0.6525:0.2628	.	399;399	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	399	ENSP00000254442:V399L;ENSP00000350187:V399L	ENSP00000254442:V399L	V	+	1	0	WDR7	52513265	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.291000	0.33330	2.680000	0.91292	0.585000	0.79938	GTG	WDR7	-	superfamily_Quinonprotein_ADH-like	ENSG00000091157		0.413	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	257	0.00	0	G			54362267	54362267	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	missense	427	13.03	64	SNP	1.000	T
ZAN	7455	genome.wustl.edu	37	7	100334227	100334227	+	RNA	SNP	G	G	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr7:100334227G>T	ENST00000348028.3	+	0	393				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCCACCGGGGCCCCCGGGG	0.647																																						dbGAP											0													49.0	47.0	48.0					7																	100334227		1762	3858	5620	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334227G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.G76	ENST00000348028.3	37	c.228		7																																																																																			ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000146839		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	64	0.00	0	G	NM_003386		100334227	100334227	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	silent	54	29.87	23	SNP	0.001	T
ZCCHC2	54877	genome.wustl.edu	37	18	60209735	60209735	+	Silent	SNP	A	A	T			TCGA-BH-A18T-01A-11D-A12B-09	TCGA-BH-A18T-11A-42D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	4e0ddfcb-e847-4132-bdce-aaee2e027b28	9cfbb971-1628-4eda-9d96-efa55b7d4138	g.chr18:60209735A>T	ENST00000269499.5	+	3	1474	c.1056A>T	c.(1054-1056)gtA>gtT	p.V352V	ZCCHC2_ENST00000586834.1_Silent_p.V31V	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	352						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTTCAGCTGTACACATTGAGA	0.373																																						dbGAP											0													72.0	64.0	67.0					18																	60209735		1853	4104	5957	-	-	-	SO:0001819	synonymous_variant	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1056A>T	18.37:g.60209735A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.T272S	ENST00000269499.5	37	c.814	CCDS45880.1	18																																																																																			ZCCHC2	-	superfamily_Phox	ENSG00000141664		0.373	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	399	0.00	0	A	NM_017742		60209735	60209735	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000585873	ensembl	human	known	69_37n	missense	589	20.38	151	SNP	1.000	T
