#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTN1	87	genome.wustl.edu	37	14	69349628	69349628	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr14:69349628T>C	ENST00000193403.6	-	15	2163	c.1780A>G	c.(1780-1782)Acc>Gcc	p.T594A	ACTN1_ENST00000538545.2_Missense_Mutation_p.T594A|ACTN1_ENST00000394419.4_Missense_Mutation_p.T594A|ACTN1_ENST00000376839.3_Missense_Mutation_p.T529A|ACTN1_ENST00000438964.2_Missense_Mutation_p.T594A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	594	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCGTGATGGTTGTGTAGGGG	0.537																																						dbGAP											0													206.0	161.0	176.0					14																	69349628		2203	4300	6503	-	-	-	SO:0001583	missense	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1780A>G	14.37:g.69349628T>C	ENSP00000193403:p.Thr594Ala		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	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.T594A	ENST00000193403.6	37	c.1780	CCDS9792.1	14	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898314	0.52227	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.43	4.28	0.50868	.	0.113405	0.64402	N	0.000014	T	0.67135	0.2861	M	0.78049	2.395	0.51482	D	0.999921	B;B;B;B;B	0.14805	0.011;0.001;0.0;0.0;0.0	B;B;B;B;B	0.24269	0.052;0.022;0.001;0.001;0.002	T	0.65038	-0.6265	10	0.48119	T	0.1	.	11.2213	0.48857	0.0:0.0712:0.0:0.9288	.	225;594;594;594;241	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0	.;.;.;ACTN1_HUMAN;.	A	594;594;594;529;594;184	ENSP00000193403:T594A;ENSP00000377941:T594A;ENSP00000414272:T594A;ENSP00000366035:T529A;ENSP00000439828:T594A;ENSP00000444422:T184A	ENSP00000193403:T594A	T	-	1	0	ACTN1	68419381	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	2.686000	0.46968	1.075000	0.40932	0.533000	0.62120	ACC	ACTN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000072110		0.537	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	137	0.00	0	T	NM_001102		69349628	69349628	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	missense	116	25.16	39	SNP	1.000	C
ADCK5	203054	genome.wustl.edu	37	8	145616200	145616200	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr8:145616200T>C	ENST00000308860.6	+	5	531	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCCCCCCGAGTATACCCGGAC	0.687																																						dbGAP											0													37.0	40.0	39.0					8																	145616200		2201	4300	6501	-	-	-	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.487T>C	8.37:g.145616200T>C	ENSP00000310547:p.Tyr163His		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Y163H	ENST00000308860.6	37	c.487	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821167	0.50633	.	.	ENSG00000173137	ENST00000308860	T	0.80123	-1.34	4.88	4.88	0.63580	.	0.084052	0.49305	D	0.000143	D	0.91509	0.7319	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92977	0.6403	10	0.87932	D	0	-29.6751	10.8656	0.46853	0.0:0.0:0.0:1.0	.	163	Q3MIX3	ADCK5_HUMAN	H	163	ENSP00000310547:Y163H	ENSP00000310547:Y163H	Y	+	1	0	ADCK5	145587008	1.000000	0.71417	0.989000	0.46669	0.017000	0.09413	4.425000	0.59875	1.812000	0.52913	0.460000	0.39030	TAT	ADCK5	-	NULL	ENSG00000173137		0.687	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	57	0.00	0	T	NM_174922		145616200	145616200	+1	no_errors	ENST00000308860	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	C
ALMS1	7840	genome.wustl.edu	37	2	73717262	73717262	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr2:73717262A>G	ENST00000264448.6	+	10	8284	c.8173A>G	c.(8173-8175)Att>Gtt	p.I2725V	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.I2683V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2725					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCTAAATGCATTTCCAATTC	0.398																																						dbGAP											0													155.0	141.0	145.0					2																	73717262		1856	4096	5952	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.8173A>G	2.37:g.73717262A>G	ENSP00000264448:p.Ile2725Val		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.I2725V	ENST00000264448.6	37	c.8173	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358056	0.24598	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07021	3.23;3.23	4.16	-1.31	0.09230	.	0.449855	0.19073	N	0.123445	T	0.03959	0.0111	N	0.19112	0.55	0.80722	D	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.16289	0.015;0.015;0.015	T	0.43686	-0.9376	10	0.27785	T	0.31	.	3.3676	0.07208	0.3828:0.0:0.2325:0.3847	.	2725;2683;2725	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2683;2725	ENSP00000386627:I2683V;ENSP00000264448:I2725V	ENSP00000264448:I2725V	I	+	1	0	ALMS1	73570770	0.973000	0.33851	0.991000	0.47740	0.972000	0.66771	0.056000	0.14256	-0.201000	0.10284	0.416000	0.27883	ATT	ALMS1	-	NULL	ENSG00000116127		0.398	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	67	0.00	0	A	NM_015120		73717262	73717262	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	40	35.48	22	SNP	0.992	G
AOAH	313	genome.wustl.edu	37	7	36554094	36554095	+	Intron	DEL	CG	CG	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr7:36554094_36554095delCG	ENST00000258749.5	-	21	1999				AOAH_ENST00000431169.1_Frame_Shift_Del_p.CD567fs|AOAH_ENST00000538464.1_Intron|AOAH_ENST00000535891.1_Intron	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTCTGCTGTCGCATGTCAGGT	0.5																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1600-1108CG>-	7.37:g.36554094_36554095delCG			A4D1Y5|B7Z490|Q53F13	Frame_Shift_Del	DEL	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.C567fs	ENST00000258749.5	37	c.1702_1701	CCDS5448.1	7																																																																																			AOAH	-	NULL	ENSG00000136250		0.500	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	134	0.00	0	CG	NM_001637		36554094	36554095	-1	no_errors	ENST00000431169	ensembl	human	putative	69_37n	frame_shift_del	119	29.07	50	DEL	0.000:0.000	-
C1orf167	284498	genome.wustl.edu	37	1	11826918	11826918	+	3'UTR	SNP	C	C	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:11826918C>A	ENST00000484153.1	+	0	120				C1orf167_ENST00000433342.1_Intron			Q5SNV9	CA167_HUMAN	chromosome 1 open reading frame 167											central_nervous_system(1)	1						CAGCTGCTCCCCCTGGTCTCA	0.642																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AL834308		1p36.22	2012-04-20			ENSG00000215910	ENSG00000215910			25262	protein-coding gene	gene with protein product						12370778	Standard	XM_006710065		Approved	DKFZp434E1410, RP11-56N19.2	uc001asy.1	Q5SNV9	OTTHUMG00000002228	ENST00000484153.1:c.*117C>A	1.37:g.11826918C>A			Q8NDA9|Q8NDF3	RNA	SNP	-	NULL	ENST00000484153.1	37	NULL		1																																																																																			C1orf167	-	-	ENSG00000215910		0.642	C1orf167-001	KNOWN	basic	processed_transcript	C1orf167	HGNC	protein_coding	OTTHUMT00000006326.2	38	0.00	0	C			11826918	11826918	+1	no_errors	ENST00000484153	ensembl	human	known	69_37n	rna	29	21.62	8	SNP	0.001	A
OSBPL1A	114876	genome.wustl.edu	37	18	21739776	21739776	+	IGR	SNP	A	A	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr18:21739776A>C	ENST00000319481.3	-	0	4195				CABYR_ENST00000399499.1_Missense_Mutation_p.Q294H|CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Missense_Mutation_p.Q196H|CABYR_ENST00000581397.1_Missense_Mutation_p.Q294H|CABYR_ENST00000399496.3_Missense_Mutation_p.Q294H	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTGCAATGCAAGTGCCCATTG	0.463																																						dbGAP											0													121.0	120.0	120.0					18																	21739776		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944		18.37:g.21739776A>C			B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.Q294H	ENST00000319481.3	37	c.882	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173185	0.38413	.	.	ENSG00000154040	ENST00000399496;ENST00000327201;ENST00000399499	T;T	0.50813	0.73;0.73	5.03	3.88	0.44766	.	.	.	.	.	T	0.51363	0.1670	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.52917	-0.8511	9	0.66056	D	0.02	.	6.6772	0.23100	0.8949:0.0:0.1051:0.0	.	294	O75952-3	.	H	294;196;294	ENSP00000382419:Q294H;ENSP00000382421:Q294H	ENSP00000317095:Q196H	Q	+	3	2	CABYR	19993774	0.998000	0.40836	0.994000	0.49952	0.820000	0.46376	0.571000	0.23669	1.889000	0.54706	0.460000	0.39030	CAA	CABYR	-	NULL	ENSG00000154040		0.463	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABYR	HGNC	protein_coding	OTTHUMT00000254902.1	98	0.00	0	A	NM_080597		21739776	21739776	+1	no_errors	ENST00000399496	ensembl	human	known	69_37n	missense	63	30.00	27	SNP	1.000	C
CCT7	10574	genome.wustl.edu	37	2	73476273	73476273	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr2:73476273G>C	ENST00000258091.5	+	8	1079	c.938G>C	c.(937-939)cGa>cCa	p.R313P	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.R213P|CCT7_ENST00000538797.1_Missense_Mutation_p.R185P|CCT7_ENST00000539919.1_Missense_Mutation_p.R269P|CCT7_ENST00000540468.1_Missense_Mutation_p.R226P|CCT7_ENST00000398422.2_Missense_Mutation_p.R109P	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	313					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGTGCTGGCCGAGTACCTGAG	0.522																																						dbGAP											0													93.0	96.0	95.0					2																	73476273		1995	4164	6159	-	-	-	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.938G>C	2.37:g.73476273G>C	ENSP00000258091:p.Arg313Pro		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.R313P	ENST00000258091.5	37	c.938	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849131	0.91277	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.98849	4.35	0.80722	D	1	P;D;D;D;D;D	0.89917	0.934;1.0;0.999;0.996;0.997;0.997	P;D;D;D;D;D	0.76071	0.603;0.987;0.977;0.973;0.971;0.927	D	0.96234	0.9170	10	0.87932	D	0	-7.1747	16.9294	0.86186	0.0:0.0:1.0:0.0	.	226;185;213;271;109;313	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	P	226;269;313;109;213;185;271	ENSP00000442058:R226P;ENSP00000437824:R269P;ENSP00000258091:R313P;ENSP00000381456:R109P;ENSP00000444379:R213P;ENSP00000438462:R185P	ENSP00000258091:R313P	R	+	2	0	CCT7	73329781	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.588000	0.98232	2.671000	0.90904	0.455000	0.32223	CGA	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.522	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	73	0.00	0	G			73476273	73476273	+1	no_errors	ENST00000258091	ensembl	human	known	69_37n	missense	60	35.48	33	SNP	1.000	C
CFB	629	genome.wustl.edu	37	6	31916210	31916210	+	Missense_Mutation	SNP	A	A	T	rs534739758	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr6:31916210A>T	ENST00000425368.2	+	7	1470	c.957A>T	c.(955-957)aaA>aaT	p.K319N	CFB_ENST00000456570.1_Missense_Mutation_p.K821N|CFB_ENST00000477310.1_Missense_Mutation_p.K670N|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.K821N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	319	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATACCCCAAAATTTGGGTCA	0.463													A|||	2	0.000399361	0.0	0.0	5008	,	,		22918	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	90.0	93.0					6																	31916210		2203	4300	6503	-	-	-	SO:0001583	missense	0			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.957A>T	6.37:g.31916210A>T	ENSP00000416561:p.Lys319Asn		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.K821N	ENST00000425368.2	37	c.2463	CCDS4729.1	6	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202653	0.38905	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.63	-4.17	0.03857	von Willebrand factor, type A (3);	0.896444	0.09565	N	0.784954	T	0.58977	0.2160	M	0.70595	2.14	0.09310	N	1	B;B;B	0.21225	0.053;0.02;0.019	B;B;B	0.23574	0.047;0.044;0.017	T	0.49399	-0.8944	10	0.34782	T	0.22	-1.8357	1.657	0.02784	0.2403:0.2475:0.0815:0.4307	.	821;319;319	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	N	821;319;821;670	ENSP00000451848:K821N;ENSP00000416561:K319N;ENSP00000410815:K821N;ENSP00000418996:K670N	ENSP00000416561:K319N	K	+	3	2	CFB;XXbac-BPG116M5.17	32024189	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-1.354000	0.02614	-0.560000	0.06102	0.260000	0.18958	AAA	CFB	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000243649		0.463	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3	89	0.00	0	A	NM_001710		31916210	31916210	+1	no_errors	ENST00000556679	ensembl	human	known	69_37n	missense	110	21.43	30	SNP	0.002	T
CLSTN1	22883	genome.wustl.edu	37	1	9801173	9801173	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:9801173C>T	ENST00000377298.4	-	10	2290	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V490M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V500M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	500					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCCACCACGAGCTGAGTT	0.542																																						dbGAP											0													97.0	89.0	92.0					1																	9801173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1498G>A	1.37:g.9801173C>T	ENSP00000366513:p.Val500Met		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V500M	ENST00000377298.4	37	c.1498	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757987	0.49468	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.74737	4.32;4.32;-0.87;-0.87	5.61	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.118771	0.64402	D	0.000019	T	0.76047	0.3933	L	0.31664	0.95	0.52099	D	0.999944	D;D;D	0.76494	0.998;0.998;0.999	D;P;D	0.66196	0.942;0.904;0.942	T	0.71523	-0.4567	10	0.16420	T	0.52	-27.7971	14.7743	0.69713	0.0:0.9306:0.0:0.0694	.	500;490;500	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	500;490;320;500;500	ENSP00000366513:V500M;ENSP00000354997:V490M;ENSP00000401934:V320M;ENSP00000366502:V500M	ENSP00000354997:V490M	V	-	1	0	CLSTN1	9723760	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	3.745000	0.55119	1.371000	0.46172	0.655000	0.94253	GTG	CLSTN1	-	superfamily_ConA-like_lec_gl	ENSG00000171603		0.542	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	66	0.00	0	C			9801173	9801173	-1	no_errors	ENST00000377298	ensembl	human	known	69_37n	missense	41	42.25	30	SNP	1.000	T
CLCNKA	1187	genome.wustl.edu	37	1	16350315	16350315	+	Nonsense_Mutation	SNP	C	C	T	rs141758489	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:16350315C>T	ENST00000331433.4	+	3	140	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	CLCNKA_ENST00000420078.1_Nonsense_Mutation_p.Q41*|CLCNKA_ENST00000375692.1_Nonsense_Mutation_p.Q41*|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Nonsense_Mutation_p.Q41*			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	41					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTGGCTAAAGCAGAAGGTGTT	0.602																																						dbGAP											0													178.0	124.0	142.0					1																	16350315		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.121C>T	1.37:g.16350315C>T	ENSP00000332771:p.Gln41*		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Nonsense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.Q41*	ENST00000331433.4	37	c.121	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481144	0.26598	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	.	.	.	3.55	-0.363	0.12556	.	0.818341	0.11033	U	0.607029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.0944	0.25301	0.265:0.3776:0.3574:0.0	.	.	.	.	X	41	.	ENSP00000332771:Q41X	Q	+	1	0	CLCNKA	16222902	0.201000	0.23410	0.985000	0.45067	0.060000	0.15804	0.232000	0.17891	0.163000	0.19507	0.313000	0.20887	CAG	CLCNKA	-	superfamily_Cl-channel_core	ENSG00000186510		0.602	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	119	0.00	0	C			16350315	16350315	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	nonsense	129	15.69	24	SNP	0.936	T
COL5A1	1289	genome.wustl.edu	37	9	137710523	137710523	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr9:137710523C>T	ENST00000371817.3	+	55	4666	c.4252C>T	c.(4252-4254)Cct>Tct	p.P1418S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1418	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTGGAAGGCCCTCCTGGGAA	0.692																																						dbGAP											0													9.0	12.0	11.0					9																	137710523		2186	4280	6466	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4252C>T	9.37:g.137710523C>T	ENSP00000360882:p.Pro1418Ser		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.P1418S	ENST00000371817.3	37	c.4252	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	18.32	3.599130	0.66332	.	.	ENSG00000130635	ENST00000371817	D	0.94046	-3.34	4.89	4.89	0.63831	.	0.067710	0.64402	U	0.000011	D	0.90765	0.7101	L	0.52266	1.64	0.58432	D	0.999995	P	0.45126	0.851	B	0.37550	0.253	D	0.91711	0.5381	10	0.52906	T	0.07	.	18.047	0.89335	0.0:1.0:0.0:0.0	.	1418	P20908	CO5A1_HUMAN	S	1418	ENSP00000360882:P1418S	ENSP00000360882:P1418S	P	+	1	0	COL5A1	136850344	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.857000	0.62939	2.258000	0.74832	0.448000	0.29417	CCT	COL5A1	-	NULL	ENSG00000130635		0.692	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	73	0.00	0	C	NM_000093		137710523	137710523	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	1.000	T
DGCR6	8214	genome.wustl.edu	37	22	18899484	18899484	+	3'UTR	SNP	G	G	A	rs10602	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr22:18899484G>A	ENST00000331444.6	+	0	1097				DGCR6_ENST00000413981.1_3'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GGGCCCACTCGAGCGCTTGTT	0.617													.|||	389	0.0776757	0.0189	0.1326	5008	,	,		14876	0.0873		0.1302	False		,,,				2504	0.0542					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.*282G>A	22.37:g.18899484G>A			B2RCH5|D3DX15|G5E9J8|Q9BY28	RNA	SNP	-	NULL	ENST00000331444.6	37	NULL	CCDS13753.1	22																																																																																			DGCR6	-	-	ENSG00000183628		0.617	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	8	0.00	0	G	NM_005675		18899484	18899484	+1	no_errors	ENST00000436645	ensembl	human	known	69_37n	rna	7	46.15	6	SNP	0.000	A
DST	667	genome.wustl.edu	37	6	56473029	56473029	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr6:56473029T>A	ENST00000361203.3	-	36	5771	c.5764A>T	c.(5764-5766)Aac>Tac	p.N1922Y	DST_ENST00000312431.6_Missense_Mutation_p.N1922Y|DST_ENST00000370769.4_Missense_Mutation_p.N1922Y|DST_ENST00000370754.5_Missense_Mutation_p.N2100Y|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.N1596Y|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1922					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGCTGTGTTGTTGTCTATA	0.348																																						dbGAP											0													88.0	88.0	88.0					6																	56473029		1806	4067	5873	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5764A>T	6.37:g.56473029T>A	ENSP00000354508:p.Asn1922Tyr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.N2100Y	ENST00000361203.3	37	c.6298		6	.	.	.	.	.	.	.	.	.	.	T	4.415	0.076809	0.08485	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.66	0.515	0.17013	.	0.215706	0.31577	N	0.007408	T	0.10165	0.0249	.	.	.	0.35294	D	0.782458	B	0.13145	0.007	B	0.17722	0.019	T	0.12116	-1.0560	8	0.48119	T	0.1	.	1.4981	0.02470	0.2284:0.1305:0.1188:0.5224	.	1596	Q03001-9	.	Y	2100;1922;1596;1922;1922;1596	ENSP00000359790:N2100Y;ENSP00000359805:N1922Y;ENSP00000393645:N1596Y;ENSP00000307959:N1922Y;ENSP00000354508:N1922Y;ENSP00000404924:N1596Y	ENSP00000307959:N1922Y	N	-	1	0	DST	56580988	0.171000	0.23029	0.183000	0.23137	0.714000	0.41099	0.540000	0.23191	-0.124000	0.11724	0.455000	0.32223	AAC	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat	ENSG00000151914		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	27	0.00	0	T	NM_001723		56473029	56473029	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.034	A
EEF1DP3	196549	genome.wustl.edu	37	13	32527133	32527133	+	RNA	SNP	T	T	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr13:32527133T>C	ENST00000428783.1	+	0	833							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										GACGATGACATTGACCTGTTT	0.612																																						dbGAP											0													24.0	21.0	22.0					13																	32527133		692	1591	2283	-	-	-			0					13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527133T>C			Q08AR3	RNA	SNP	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			EEF1DP3	-	-	ENSG00000229715		0.612	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2	63	0.00	0	T	NR_027062		32527133	32527133	+1	no_errors	ENST00000428783	ensembl	human	known	69_37n	rna	54	39.33	35	SNP	1.000	C
EMX2	2018	genome.wustl.edu	37	10	119307895	119307895	+	3'UTR	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr10:119307895G>A	ENST00000553456.3	+	0	1735				EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGAATGCGGCGAAGACTCTGG	0.557																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*152G>A	10.37:g.119307895G>A			G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-	ENSG00000170370		0.557	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	45	0.00	0	G	NM_004098		119307895	119307895	+1	no_errors	ENST00000442245	ensembl	human	known	69_37n	rna	34	24.44	11	SNP	0.274	A
EPS15L1	58513	genome.wustl.edu	37	19	16528437	16528437	+	Silent	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr19:16528437G>A	ENST00000248070.6	-	12	1258	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	EPS15L1_ENST00000455140.2_Silent_p.G373G|EPS15L1_ENST00000594975.1_Silent_p.G373G|EPS15L1_ENST00000535753.2_Silent_p.G373G|EPS15L1_ENST00000602009.1_Silent_p.G219G|EPS15L1_ENST00000597937.1_Silent_p.G373G	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	373					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCCGAGAGAGCCTGAACTGT	0.517											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													80.0	77.0	78.0					19																	16528437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1119C>T	19.37:g.16528437G>A		711	A2RRF3|A5PL29|B4DKA3	Silent	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.G373	ENST00000248070.6	37	c.1119	CCDS32944.1	19																																																																																			EPS15L1	-	NULL	ENSG00000127527		0.517	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	53	0.00	0	G	NM_021235		16528437	16528437	-1	no_errors	ENST00000455140	ensembl	human	known	69_37n	silent	41	32.79	20	SNP	0.151	A
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	88	0.00	0	C			37868208	37868208	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	74	66.67	148	SNP	1.000	T
ERBB3	2065	genome.wustl.edu	37	12	56481922	56481922	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr12:56481922G>A	ENST00000267101.3	+	7	1290	c.850G>A	c.(850-852)Gga>Aga	p.G284R	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.G225R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	284					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.G284R(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCAGTATGGAGGAGTTTGTGT	0.468																																						dbGAP											2	Substitution - Missense(2)	lung(1)|endometrium(1)											66.0	62.0	63.0					12																	56481922		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.850G>A	12.37:g.56481922G>A	ENSP00000267101:p.Gly284Arg		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G284R	ENST00000267101.3	37	c.850	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775317	0.49786	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.66638	-0.22;-0.22	4.89	3.07	0.35406	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.096735	0.44097	D	0.000500	T	0.43478	0.1249	N	0.05441	-0.05	0.80722	D	1	B	0.31435	0.323	B	0.27608	0.081	T	0.43972	-0.9358	10	0.87932	D	0	.	10.1683	0.42893	0.1632:0.0:0.8368:0.0	.	284	P21860	ERBB3_HUMAN	R	284;284;225	ENSP00000267101:G284R;ENSP00000408340:G225R	ENSP00000267101:G284R	G	+	1	0	ERBB3	54768189	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	2.555000	0.45854	0.665000	0.31066	0.563000	0.77884	GGA	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000065361		0.468	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	29	0.00	0	G			56481922	56481922	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	20	51.22	21	SNP	1.000	A
FBRS	64319	genome.wustl.edu	37	16	30678913	30678913	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr16:30678913G>T	ENST00000287468.5	+	9	747	c.484G>T	c.(484-486)Gga>Tga	p.G162*	FBRS_ENST00000395073.2_Nonsense_Mutation_p.G74*|FBRS_ENST00000568722.1_Nonsense_Mutation_p.G74*|FBRS_ENST00000356166.6_Nonsense_Mutation_p.G682*	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	162										ovary(1)	1			Colorectal(24;0.103)			CGGGGCCCACGGACCCTTCCT	0.622																																						dbGAP											0													19.0	16.0	17.0					16																	30678913		2052	3977	6029	-	-	-	SO:0001587	stop_gained	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.484G>T	16.37:g.30678913G>T	ENSP00000287468:p.Gly162*		B4DP86|Q96CI9|Q9H9X4	Nonsense_Mutation	SNP	prints_AUTS2	p.G682*	ENST00000287468.5	37	c.2044		16	.	.	.	.	.	.	.	.	.	.	G	39	7.643686	0.98409	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	.	.	.	4.89	3.92	0.45320	.	0.421537	0.20028	N	0.100764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.4229	10.7439	0.46168	0.0932:0.0:0.9068:0.0	.	.	.	.	X	682;162;74	.	ENSP00000287468:G162X	G	+	1	0	FBRS	30586414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.409000	0.44583	2.275000	0.75901	0.655000	0.94253	GGA	FBRS	-	NULL	ENSG00000156860		0.622	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		74	0.00	0	G	NM_022452		30678913	30678913	+1	no_errors	ENST00000356166	ensembl	human	known	69_37n	nonsense	65	26.14	23	SNP	1.000	T
GPR137C	283554	genome.wustl.edu	37	14	53098909	53098909	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr14:53098909G>A	ENST00000321662.6	+	4	749	c.749G>A	c.(748-750)gGc>gAc	p.G250D		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	250						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					GTCGTCGTGGGCTCTGTAGTC	0.383																																						dbGAP											0													161.0	160.0	161.0					14																	53098909		1891	4122	6013	-	-	-	SO:0001583	missense	0			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.749G>A	14.37:g.53098909G>A	ENSP00000315106:p.Gly250Asp		Q86SM2	Missense_Mutation	SNP	NULL	p.G250D	ENST00000321662.6	37	c.749	CCDS45106.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.503316|4.503316	0.85176|0.85176	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000555622|ENST00000321662	.|T	.|0.58210	.|0.35	5.58|5.58	4.68|4.68	0.58851|0.58851	.|.	.|0.090990	.|0.85682	.|D	.|0.000000	T|T	0.69160|0.69160	0.3080|0.3080	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.985;0.992	.|D;D	.|0.63192	.|0.912;0.912	T|T	0.73895|0.73895	-0.3838|-0.3838	5|10	.|0.72032	.|D	.|0.01	-19.2768|-19.2768	16.676|16.676	0.85279|0.85279	0.0:0.13:0.87:0.0|0.0:0.13:0.87:0.0	.|.	.|250;79	.|Q8N3F9;B3KW22	.|G137C_HUMAN;.	T|D	182|250	.|ENSP00000315106:G250D	.|ENSP00000315106:G250D	A|G	+|+	1|2	0|0	GPR137C|GPR137C	52168659|52168659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.165000|9.165000	0.94761|0.94761	1.462000|1.462000	0.47948|0.47948	0.591000|0.591000	0.81541|0.81541	GCT|GGC	GPR137C	-	NULL	ENSG00000180998		0.383	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	61	0.00	0	G	XM_290615		53098909	53098909	+1	no_errors	ENST00000321662	ensembl	human	known	69_37n	missense	63	25.88	22	SNP	1.000	A
IFNA10	3446	genome.wustl.edu	37	9	21206881	21206881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr9:21206881delC	ENST00000357374.2	-	1	261	c.216delG	c.(214-216)cagfs	p.Q72fs		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	72					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTTGAGCCTTCTGGAACTGGT	0.512																																						dbGAP											0													74.0	81.0	78.0					9																	21206881		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.216delG	9.37:g.21206881delC	ENSP00000369566:p.Gln72fs		Q5VV13	Frame_Shift_Del	DEL	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.K73fs	ENST00000357374.2	37	c.216	CCDS6499.1	9																																																																																			IFNA10	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000186803		0.512	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA10	HGNC	protein_coding	OTTHUMT00000051887.1	146	0.00	0	C	NM_002171		21206881	21206881	-1	no_errors	ENST00000357374	ensembl	human	known	69_37n	frame_shift_del	48	47.52	48	DEL	0.624	-
KRT17P2	339241	genome.wustl.edu	37	17	18333915	18333915	+	RNA	SNP	C	C	T	rs148961204	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr17:18333915C>T	ENST00000326333.8	+	0	1148				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		CAGAGAACCGCTACTGCATGC	0.612													c|||	2322	0.463658	0.4766	0.4856	5008	,	,		21453	0.4107		0.4384	False		,,,				2504	0.5112					dbGAP											0																																										-	-	-			0					17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333915C>T				RNA	SNP	-	NULL	ENST00000326333.8	37	NULL		17																																																																																			KRT17P2	-	-	ENSG00000186831		0.612	KRT17P2-002	KNOWN	basic	processed_transcript	KRT17P2	HGNC	pseudogene	OTTHUMT00000446573.1	50	0.00	0	C	NG_002778		18333915	18333915	+1	no_errors	ENST00000326333	ensembl	human	known	69_37n	rna	21	16.00	4	SNP	1.000	T
KRTAP15-1	254950	genome.wustl.edu	37	21	31812899	31812899	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr21:31812899G>T	ENST00000334067.3	+	1	303	c.254G>T	c.(253-255)aGt>aTt	p.S85I		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	85						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ATCTTCTGCAGTCCCCGCCAG	0.522																																						dbGAP											0													139.0	129.0	133.0					21																	31812899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.254G>T	21.37:g.31812899G>T	ENSP00000334866:p.Ser85Ile		Q2M3F4	Missense_Mutation	SNP	pfam_PMG	p.S85I	ENST00000334067.3	37	c.254	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475874	0.44044	.	.	ENSG00000186970	ENST00000334067	T	0.03801	3.8	4.69	0.627	0.17675	.	0.327233	0.25598	N	0.029563	T	0.06005	0.0156	M	0.64567	1.98	0.09310	N	1	B	0.24258	0.1	B	0.26770	0.073	T	0.26608	-1.0098	10	0.66056	D	0.02	-0.231	5.8878	0.18892	0.091:0.0:0.4127:0.4963	.	85	Q3LI76	KR151_HUMAN	I	85	ENSP00000334866:S85I	ENSP00000334866:S85I	S	+	2	0	KRTAP15-1	30734770	0.002000	0.14202	0.000000	0.03702	0.028000	0.11728	0.955000	0.29188	0.102000	0.17638	-0.136000	0.14681	AGT	KRTAP15-1	-	pfam_PMG	ENSG00000186970		0.522	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	HGNC	protein_coding	OTTHUMT00000128236.1	71	0.00	0	G			31812899	31812899	+1	no_errors	ENST00000334067	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	0.000	T
ZNRF1	84937	genome.wustl.edu	37	16	75146546	75146546	+	IGR	SNP	C	C	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr16:75146546C>A	ENST00000335325.4	+	0	4620				LDHD_ENST00000300051.4_Missense_Mutation_p.A438S|RP11-252E2.1_ENST00000499110.1_RNA|LDHD_ENST00000450168.2_Missense_Mutation_p.A415S	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						AGTTCCTCGGCGTCATCAGGG	0.612																																						dbGAP											0													64.0	54.0	57.0					16																	75146546		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146546C>A			D3DUJ9|Q9H083	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.A438S	ENST00000335325.4	37	c.1312	CCDS10912.1	16	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294739	0.23564	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.88586	-2.4;-2.4	5.51	-11.0	0.00169	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.937351	0.09011	N	0.861517	T	0.82213	0.4988	L	0.54863	1.705	0.09310	N	1	B;B	0.28324	0.172;0.207	B;B	0.35727	0.085;0.209	T	0.71234	-0.4653	10	0.66056	D	0.02	0.0433	4.9352	0.13937	0.067:0.223:0.3496:0.3604	.	415;438	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	S	415;438	ENSP00000417011:A415S;ENSP00000300051:A438S	ENSP00000300051:A438S	A	-	1	0	LDHD	73704047	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.745000	0.04834	-2.408000	0.00573	-1.125000	0.01998	GCC	LDHD	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000166816		0.612	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000269020.2	53	0.00	0	C			75146546	75146546	-1	no_errors	ENST00000300051	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	0.000	A
LRRC41	10489	genome.wustl.edu	37	1	46751042	46751042	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:46751042G>A	ENST00000343304.6	-	4	1772	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	496					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACCATTGTAGGAGAGTGTGAG	0.567																																						dbGAP											0													48.0	46.0	47.0					1																	46751042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1487C>T	1.37:g.46751042G>A	ENSP00000343298:p.Ser496Phe		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S496F	ENST00000343304.6	37	c.1487	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	g	18.00	3.524958	0.64747	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.59772	0.24	5.16	5.16	0.70880	.	0.083143	0.52532	D	0.000074	T	0.64638	0.2616	N	0.24115	0.695	0.41076	D	0.985488	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.66497	0.918;0.944;0.918	T	0.70389	-0.4885	10	0.87932	D	0	1.9477	18.7093	0.91651	0.0:0.0:1.0:0.0	.	496;474;496	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	F	496;474	ENSP00000343298:S496F	ENSP00000343298:S496F	S	-	2	0	LRRC41	46523629	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.795000	0.62489	2.424000	0.82194	0.450000	0.29827	TCC	LRRC41	-	NULL	ENSG00000132128		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	58	0.00	0	G	NM_006369		46751042	46751042	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	1.000	A
MAF	4094	genome.wustl.edu	37	16	79632803	79632803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr16:79632803C>A	ENST00000393350.1	-	1	1808	c.997G>T	c.(997-999)Gag>Tag	p.E333*	MAF_ENST00000326043.4_Nonsense_Mutation_p.E333*|MAF_ENST00000569649.1_Nonsense_Mutation_p.E333*	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	333	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|Represses ARE-mediated transcription.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CTGGAGATCTCCTGCTTGAGG	0.602			T	IGH@	MM																																	dbGAP		Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0													64.0	59.0	61.0					16																	79632803		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.997G>T	16.37:g.79632803C>A	ENSP00000377019:p.Glu333*		Q66I47|Q9UP93	Nonsense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E333*	ENST00000393350.1	37	c.997	CCDS42198.1	16	.	.	.	.	.	.	.	.	.	.	C	46	12.851081	0.99701	.	.	ENSG00000178573	ENST00000326043;ENST00000393350	.	.	.	4.27	4.27	0.50696	.	0.109199	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-24.8905	17.0445	0.86498	0.0:1.0:0.0:0.0	.	.	.	.	X	333	.	ENSP00000327048:E333X	E	-	1	0	MAF	78190304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.085000	0.62840	0.549000	0.68633	GAG	MAF	-	pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP	ENSG00000178573		0.602	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAF	HGNC	protein_coding	OTTHUMT00000317037.1	56	0.00	0	C			79632803	79632803	-1	no_errors	ENST00000326043	ensembl	human	known	69_37n	nonsense	52	37.35	31	SNP	1.000	A
MCF2L	23263	genome.wustl.edu	37	13	113750783	113750783	+	Silent	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr13:113750783C>T	ENST00000375608.3	+	29	3322	c.3264C>T	c.(3262-3264)ggC>ggT	p.G1088G	MCF2L_ENST00000535094.2_Silent_p.G1058G|MCF2L_ENST00000442652.2_Silent_p.G1088G|MCF2L_ENST00000423482.2_Silent_p.G1056G|MCF2L_ENST00000375601.3_Silent_p.G1062G|MCF2L_ENST00000397030.1_Silent_p.G1091G|MCF2L_ENST00000421756.1_Silent_p.G1062G|MCF2L_ENST00000434480.2_Silent_p.G1064G|MCF2L_ENST00000375604.2_Silent_p.G1115G			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1088	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGCAGGAGGGCGACGAGGGCC	0.697																																						dbGAP											0													22.0	34.0	30.0					13																	113750783		1550	3569	5119	-	-	-	SO:0001819	synonymous_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3264C>T	13.37:g.113750783C>T			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R744*	ENST00000375608.3	37	c.2230		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.550|2.550	-0.304390|-0.304390	0.05495|0.05495	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000261963;ENST00000420013|ENST00000397017;ENST00000453297	.|.	.|.	.|.	5.14|5.14	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|.	0.19087|.	0.0458|.	.|.	.|.	.|.	0.32064|0.32064	N|N	0.595348|0.595348	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12319|.	-1.0552|.	4|.	.|.	.|.	.|.	.|.	1.4359|1.4359	0.02343|0.02343	0.2418:0.1188:0.3578:0.2815|0.2418:0.1188:0.3578:0.2815	.|.	.|.	.|.	.|.	V|X	229;130|744;269	.|.	.|.	A|R	+|+	2|1	0|2	MCF2L|MCF2L	112798784|112798784	0.008000|0.008000	0.16893|0.16893	0.000000|0.000000	0.03702|0.03702	0.069000|0.069000	0.16628|0.16628	-1.174000|-1.174000	0.03105|0.03105	-1.769000|-1.769000	0.01297|0.01297	0.563000|0.563000	0.77884|0.77884	GCG|CGA	MCF2L	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000126217		0.697	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	64	0.00	0	C			113750783	113750783	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000397017	ensembl	human	novel	69_37n	nonsense	47	37.33	28	SNP	0.034	T
MLLT4	4301	genome.wustl.edu	37	6	168344142	168344143	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr6:168344142_168344143delCT	ENST00000447894.2	+	24	3205_3206	c.3205_3206delCT	c.(3205-3207)ctcfs	p.L1069fs	MLLT4_ENST00000344191.4_Frame_Shift_Del_p.L1069fs|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.L1069fs|MLLT4_ENST00000366806.2_Frame_Shift_Del_p.L1069fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.L1052fs|MLLT4_ENST00000351017.4_Frame_Shift_Del_p.L1076fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.L1068fs			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1069	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCTGGTTGGACTCTCTCAGGAA	0.406			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3205_3206delCT	6.37:g.168344146_168344147delCT	ENSP00000404595:p.Leu1069fs		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Frame_Shift_Del	DEL	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q1071fs	ENST00000447894.2	37	c.3205_3206		6																																																																																			MLLT4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000130396		0.406	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	49	0.00	0	CT	NM_005936		168344142	168344143	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	frame_shift_del	44	36.99	27	DEL	0.999:1.000	-
MRPL42	28977	genome.wustl.edu	37	12	93894779	93894779	+	Intron	SNP	A	A	T	rs6538424	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr12:93894779A>T	ENST00000549982.1	+	6	544				MRPL42_ENST00000393128.4_Intron|MRPL42_ENST00000552938.1_3'UTR|MRPL42_ENST00000361630.2_Intron|MRPL42_ENST00000552217.1_Intron	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						agaaaagaaaaCAAATTTTCA	0.313													A|||	2989	0.596845	0.6089	0.6542	5008	,	,		17999	0.4534		0.7326	False		,,,				2504	0.5481					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.384-173A>T	12.37:g.93894779A>T			Q6FID1|Q96Q48|Q9P0S1	RNA	SNP	-	NULL	ENST00000549982.1	37	NULL	CCDS9045.1	12																																																																																			MRPL42	-	-	ENSG00000198015		0.313	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL42	HGNC	protein_coding	OTTHUMT00000407715.1	16	0.00	0	A	NM_014050		93894779	93894779	+1	no_errors	ENST00000552938	ensembl	human	putative	69_37n	rna	26	18.75	6	SNP	0.045	T
MUC4	4585	genome.wustl.edu	37	3	195507242	195507242	+	Missense_Mutation	SNP	C	C	A	rs567957149|rs74187968	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr3:195507242C>A	ENST00000463781.3	-	2	11668	c.11209G>T	c.(11209-11211)Gca>Tca	p.A3737S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3737S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGG	0.572													.|||	53	0.0105831	0.0136	0.0086	5008	,	,		10241	0.0069		0.0139	False		,,,				2504	0.0082					dbGAP											0													35.0	34.0	34.0					3																	195507242		619	1580	2199	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11209G>T	3.37:g.195507242C>A	ENSP00000417498:p.Ala3737Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A3737S	ENST00000463781.3	37	c.11209	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	2.940	-0.219185	0.06101	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32515	1.56;1.45	.	.	.	.	0.435754	0.11199	U	0.589055	T	0.12561	0.0305	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26155	-1.0111	8	.	.	.	.	2.155	0.03810	0.0:0.332:0.3413:0.3266	.	3609	E7ESK3	.	S	3737	ENSP00000417498:A3737S;ENSP00000420243:A3737S	.	A	-	1	0	MUC4	196992021	0.000000	0.05858	0.005000	0.12908	0.022000	0.10575	-0.526000	0.06207	-0.927000	0.03766	0.064000	0.15345	GCA	MUC4	-	NULL	ENSG00000145113		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	76	0.00	0	C	NM_018406		195507242	195507242	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	78	10.34	9	SNP	0.018	A
NEFM	4741	genome.wustl.edu	37	8	24772014	24772014	+	Silent	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr8:24772014C>T	ENST00000221166.5	+	1	1490	c.708C>T	c.(706-708)agC>agT	p.S236S	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'Flank|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Silent_p.S236S|NEFM_ENST00000437366.2_Silent_p.S236S|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	236	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTGCGGAGCAACCACGAGG	0.627																																						dbGAP											0													76.0	60.0	65.0					8																	24772014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.708C>T	8.37:g.24772014C>T			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.S236	ENST00000221166.5	37	c.708	CCDS6046.1	8																																																																																			NEFM	-	pfam_F	ENSG00000104722		0.627	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	47	0.00	0	C	NM_005382		24772014	24772014	+1	no_errors	ENST00000221166	ensembl	human	known	69_37n	silent	41	28.07	16	SNP	1.000	T
NEU4	129807	genome.wustl.edu	37	2	242758079	242758079	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr2:242758079G>A	ENST00000391969.2	+	5	1871	c.1160G>A	c.(1159-1161)aGg>aAg	p.R387K	NEU4_ENST00000407683.1_Missense_Mutation_p.R387K|NEU4_ENST00000325935.6_Missense_Mutation_p.R400K|NEU4_ENST00000405370.1_Missense_Mutation_p.R387K|NEU4_ENST00000404257.1_Missense_Mutation_p.R399K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	387					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GTGGGGCGCAGGGCTCGGCTA	0.697																																						dbGAP											0													7.0	9.0	9.0					2																	242758079		2156	4261	6417	-	-	-	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1160G>A	2.37:g.242758079G>A	ENSP00000375830:p.Arg387Lys		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Neuraminidase	p.R400K	ENST00000391969.2	37	c.1199	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360969	0.24684	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	4.24	4.24	0.50183	Neuraminidase (2);	0.233893	0.46758	D	0.000263	T	0.75057	0.3798	N	0.17312	0.475	0.27371	N	0.955699	P;D;B	0.56035	0.956;0.974;0.349	B;P;B	0.50659	0.444;0.647;0.062	T	0.65965	-0.6040	10	0.13853	T	0.58	-26.6991	12.715	0.57109	0.0:0.0:0.8237:0.1763	.	399;399;387	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	K	387;387;397;399;387;400	ENSP00000385402:R387K;ENSP00000384804:R387K;ENSP00000385149:R399K;ENSP00000375830:R387K;ENSP00000320318:R400K	ENSP00000320318:R400K	R	+	2	0	NEU4	242406752	0.130000	0.22417	0.684000	0.30055	0.579000	0.36224	1.400000	0.34577	1.898000	0.54952	0.401000	0.26515	AGG	NEU4	-	superfamily_Neuraminidase	ENSG00000204099		0.697	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	64	0.00	0	G	NM_080741		242758079	242758079	+1	no_errors	ENST00000325935	ensembl	human	known	69_37n	missense	59	28.92	24	SNP	0.873	A
OR4D2	124538	genome.wustl.edu	37	17	56247845	56247845	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr17:56247845G>T	ENST00000545221.1	+	1	829	c.829G>T	c.(829-831)Gtc>Ttc	p.V277F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CGGCCACACAGTCATGACCCC	0.527																																						dbGAP											0													136.0	121.0	126.0					17																	56247845		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.829G>T	17.37:g.56247845G>T	ENSP00000441354:p.Val277Phe		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V277F	ENST00000545221.1	37	c.829	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022820	0.54683	.	.	ENSG00000255713	ENST00000545221	T	0.00307	8.17	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.00666	0.0022	M	0.83012	2.62	0.29041	N	0.8851	D	0.59767	0.986	D	0.70227	0.968	T	0.42965	-0.9420	10	0.54805	T	0.06	-29.1324	11.0572	0.47925	0.0845:0.0:0.9155:0.0	.	277	P58180	OR4D2_HUMAN	F	277	ENSP00000441354:V277F	ENSP00000441354:V277F	V	+	1	0	OR4D2	53602844	0.657000	0.27393	0.996000	0.52242	0.741000	0.42261	1.426000	0.34870	2.860000	0.98153	0.609000	0.83330	GTC	OR4D2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000255713		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	90	0.00	0	G			56247845	56247845	+1	no_errors	ENST00000545221	ensembl	human	known	69_37n	missense	101	21.71	28	SNP	0.689	T
ORM1	5004	genome.wustl.edu	37	9	117085526	117085526	+	Missense_Mutation	SNP	G	G	A	rs17650		TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr9:117085526G>A	ENST00000538816.1	+	1	150	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	ORM1_ENST00000259396.8_Splice_Site_p.R38Q			P02763	A1AG1_HUMAN	orosomucoid 1	38			Q -> R (in allele ORM1*S). {ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9050929, ECO:0000269|Ref.7}.		acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	ACCCTGGACCGGGTGAGTGCC	0.632																																						dbGAP											0													22.0	18.0	19.0					9																	117085526		2188	4279	6467	-	-	-	SO:0001583	missense	0				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000538816.1:c.113G>A	9.37:g.117085526G>A	ENSP00000442679:p.Arg38Gln		B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	p.R38Q	ENST00000538816.1	37	c.113		9	1375	0.6295787545787546	275	0.5589430894308943	223	0.6160220994475138	414	0.7237762237762237	463	0.6108179419525066	G	12.14	1.848571	0.32699	.	.	ENSG00000229314	ENST00000259396;ENST00000538816	T;T	0.31510	3.13;1.49	5.31	-7.61	0.01299	.	2.360860	0.01349	N	0.011835	T	0.00012	0.0000	.	.	.	0.58432	P	5.000000000032756E-6	.	.	.	.	.	.	T	0.31998	-0.9923	6	0.23302	T	0.38	-3.7462	4.7392	0.13005	0.3975:0.0:0.1889:0.4136	.	.	.	.	Q	38	ENSP00000259396:R38Q;ENSP00000442679:R38Q	ENSP00000259396:R38Q	R	+	2	0	ORM1	116125347	0.000000	0.05858	0.001000	0.08648	0.161000	0.22273	-1.438000	0.02416	-1.430000	0.01985	-0.788000	0.03338	CGG	ORM1	-	superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	ENSG00000229314		0.632	ORM1-201	KNOWN	basic	protein_coding	ORM1	HGNC	protein_coding		54	0.00	0	G			117085526	117085526	+1	no_errors	ENST00000259396	ensembl	human	known	69_37n	missense	72	10.00	8	SNP	0.001	A
PBLD	64081	genome.wustl.edu	37	10	70055968	70055968	+	Intron	DEL	A	A	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr10:70055968delA	ENST00000358769.2	-	4	486				PBLD_ENST00000432941.1_Intron|PBLD_ENST00000495025.2_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000336578.1_Intron	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTGAGAACTTAAAAAAAAAAA	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.283+54T>-	10.37:g.70055968delA			A8MZJ3|C9JIM0|Q9HCC2	RNA	DEL	-	NULL	ENST00000358769.2	37	NULL	CCDS7277.2	10																																																																																			PBLD	-	-	ENSG00000108187		0.378	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	14	0.00	0	A	NM_022129		70055968	70055968	-1	no_errors	ENST00000478192	ensembl	human	known	69_37n	rna	12	20.00	3	DEL	0.000	-
PDE10A	10846	genome.wustl.edu	37	6	165848788	165848788	+	Silent	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr6:165848788G>T	ENST00000366882.1	-	7	598	c.444C>A	c.(442-444)ggC>ggA	p.G148G	PDE10A_ENST00000539869.2_Silent_p.G158G|PDE10A_ENST00000354448.4_Silent_p.G148G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	148	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGACGGTGGTGCCCTGAGTGA	0.488																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													152.0	135.0	141.0					6																	165848788		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.444C>A	6.37:g.165848788G>T			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G158	ENST00000366882.1	37	c.474		6																																																																																			PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.488	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	50	0.00	0	G			165848788	165848788	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	1.000	T
PDE1C	5137	genome.wustl.edu	37	7	32209536	32209536	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr7:32209536G>C	ENST00000396193.1	-	3	762	c.169C>G	c.(169-171)Ctc>Gtc	p.L57V		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCATCGATGAGGGAGTTCCAC	0.532																																						dbGAP											0													262.0	222.0	234.0					7																	32209536		876	1991	2867	-	-	-	SO:0001583	missense	0			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.169C>G	7.37:g.32209536G>C	ENSP00000379496:p.Leu57Val		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L57V	ENST00000396193.1	37	c.169	CCDS55100.1	7	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363558	0.41902	.	.	ENSG00000154678	ENST00000396193	T	0.74632	-0.86	5.75	2.97	0.34412	.	2.960020	0.00888	N	0.002202	T	0.61426	0.2346	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.49447	-0.8939	10	0.52906	T	0.07	.	5.8086	0.18454	0.1483:0.0:0.4509:0.4008	.	57	E9PE92	.	V	57	ENSP00000379496:L57V	ENSP00000379496:L57V	L	-	1	0	PDE1C	32176061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.909000	0.39917	0.358000	0.24211	0.655000	0.94253	CTC	PDE1C	-	NULL	ENSG00000154678		0.532	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000215075.1	73	0.00	0	G			32209536	32209536	-1	no_errors	ENST00000396193	ensembl	human	novel	69_37n	missense	70	27.84	27	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20766424	20766424	+	Silent	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr12:20766424C>T	ENST00000359062.3	+	3	1099	c.1059C>T	c.(1057-1059)gcC>gcT	p.A353A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	353					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGGCGAGGCCCACGGCCTCA	0.542																																						dbGAP											0													101.0	91.0	94.0					12																	20766424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1059C>T	12.37:g.20766424C>T			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A353	ENST00000359062.3	37	c.1059	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.542	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	52	0.00	0	C			20766424	20766424	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	silent	58	23.68	18	SNP	0.034	T
PREPL	9581	genome.wustl.edu	37	2	44553850	44553850	+	Splice_Site	DEL	C	C	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr2:44553850delC	ENST00000409936.1	-	11	2184		c.e11+1		PREPL_ENST00000409411.1_Splice_Site|PREPL_ENST00000378511.3_Splice_Site|PREPL_ENST00000378520.3_Splice_Site|PREPL_ENST00000410081.1_Splice_Site|PREPL_ENST00000409272.1_Splice_Site|PREPL_ENST00000409957.1_Splice_Site|PREPL_ENST00000260648.6_Splice_Site|PREPL_ENST00000541738.1_Splice_Site	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like							cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCGTACTCACCTCCAAAGTC	0.502																																						dbGAP											0													86.0	82.0	84.0					2																	44553850		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1746+1G>-	2.37:g.44553850delC			A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Splice_Site	DEL	-	e10+1	ENST00000409936.1	37	c.1746+1	CCDS33190.1	2																																																																																			PREPL	-	-	ENSG00000138078		0.502	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	42	0.00	0	C	NM_006036	Intron	44553850	44553850	-1	no_errors	ENST00000260648	ensembl	human	known	69_37n	splice_site_del	50	35.80	29	DEL	1.000	-
PRG4	10216	genome.wustl.edu	37	1	186277898	186277898	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:186277898C>T	ENST00000445192.2	+	7	3092	c.3047C>T	c.(3046-3048)gCg>gTg	p.A1016V	PRG4_ENST00000367486.3_Missense_Mutation_p.A973V|PRG4_ENST00000367484.3_Missense_Mutation_p.A545V|PRG4_ENST00000367483.4_Missense_Mutation_p.A975V|PRG4_ENST00000367485.4_Missense_Mutation_p.A923V	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1016					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AATTCTAAAGCGACAACTCCT	0.383																																						dbGAP											0													157.0	174.0	168.0					1																	186277898		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3047C>T	1.37:g.186277898C>T	ENSP00000399679:p.Ala1016Val		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.A1016V	ENST00000445192.2	37	c.3047	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	c	7.226	0.598258	0.13939	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.04275	3.66;3.66;3.78;3.66;3.78	2.8	-4.03	0.04021	.	1.439960	0.04890	N	0.449428	T	0.01730	0.0055	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.006;0.006;0.003;0.006	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46275	-0.9203	10	0.18710	T	0.47	1.3921	4.7806	0.13201	0.1457:0.3905:0.0:0.4638	.	882;923;1016;975	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	V	973;545;975;923;1016	ENSP00000356456:A973V;ENSP00000356454:A545V;ENSP00000356453:A975V;ENSP00000356455:A923V;ENSP00000399679:A1016V	ENSP00000356453:A975V	A	+	2	0	PRG4	184544521	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-1.116000	0.03286	-0.971000	0.03564	-0.330000	0.08379	GCG	PRG4	-	NULL	ENSG00000116690		0.383	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	26	0.00	0	C	NM_005807		186277898	186277898	+1	no_errors	ENST00000445192	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	0.004	T
PTCH1	5727	genome.wustl.edu	37	9	98218572	98218572	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr9:98218572C>T	ENST00000331920.6	-	19	3591	c.3292G>A	c.(3292-3294)Gtt>Att	p.V1098I	PTCH1_ENST00000429896.2_Missense_Mutation_p.V947I|PTCH1_ENST00000430669.2_Missense_Mutation_p.V1032I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1097I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V947I|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1032I|PTCH1_ENST00000418258.1_Missense_Mutation_p.V947I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1098					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCAACGTGAACGGTGAACTCC	0.502																																						dbGAP											1	Deletion - In frame(1)	central_nervous_system(1)											148.0	116.0	127.0					9																	98218572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3292G>A	9.37:g.98218572C>T	ENSP00000332353:p.Val1098Ile		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.V1098I	ENST00000331920.6	37	c.3292	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196167	0.78902	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.69463	2.115	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.994	P;D;P	0.62955	0.897;0.909;0.903	D	0.95303	0.8405	10	0.33940	T	0.23	-23.6512	19.2907	0.94098	0.0:1.0:0.0:0.0	.	1032;1097;1098	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	I	1098;1032;947;947;534;1032;947;1097	ENSP00000332353:V1098I;ENSP00000389744:V1032I;ENSP00000399981:V947I;ENSP00000396135:V947I;ENSP00000410287:V1032I;ENSP00000414823:V947I;ENSP00000364423:V1097I	ENSP00000332353:V1098I	V	-	1	0	PTCH1	97258393	1.000000	0.71417	0.976000	0.42696	0.382000	0.30200	7.487000	0.81328	2.575000	0.86900	0.655000	0.94253	GTT	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.502	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	40	0.00	0	C	NM_000264		98218572	98218572	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	T
SCYL1	57410	genome.wustl.edu	37	11	65294577	65294577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr11:65294577G>T	ENST00000270176.5	+	6	915	c.838G>T	c.(838-840)Gag>Tag	p.E280*	SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E280*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E280*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E137*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E280*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E280*|SCYL1_ENST00000524944.1_Nonsense_Mutation_p.E280*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCTCTTCCTGGAGGAGATTCA	0.567																																						dbGAP											0													59.0	63.0	62.0					11																	65294577		1899	4127	6026	-	-	-	SO:0001587	stop_gained	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.838G>T	11.37:g.65294577G>T	ENSP00000270176:p.Glu280*		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.E280*	ENST00000270176.5	37	c.838	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525011	0.85600	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000417543;ENST00000527009	.	.	.	4.72	4.72	0.59763	.	0.052325	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.3769	15.1723	0.72884	0.0:0.0:1.0:0.0	.	.	.	.	X	280;280;280;280;280;280;280;280;280;137	.	ENSP00000270176:E280X	E	+	1	0	SCYL1	65051153	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	8.585000	0.90802	2.171000	0.68590	0.561000	0.74099	GAG	SCYL1	-	superfamily_ARM-type_fold,pfscan_Prot_kinase_cat_dom	ENSG00000142186		0.567	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	34	0.00	0	G	NM_020680		65294577	65294577	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	nonsense	35	10.26	4	SNP	1.000	T
SLC35E1	79939	genome.wustl.edu	37	19	16678946	16678946	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr19:16678946A>C	ENST00000595753.1	-	3	544	c.527T>G	c.(526-528)gTc>gGc	p.V176G	CTD-3222D19.2_ENST00000409035.1_Intron|CTD-3222D19.10_ENST00000597851.1_RNA|SLC35E1_ENST00000431408.1_Missense_Mutation_p.V20G	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	176					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGCCAGCAGGACACCGCTGAT	0.562																																						dbGAP											0													84.0	82.0	83.0					19																	16678946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.527T>G	19.37:g.16678946A>C	ENSP00000470652:p.Val176Gly		Q8NBQ2|Q96JV7	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.V176G	ENST00000595753.1	37	c.527	CCDS12346.2	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301188	0.81136	.	.	ENSG00000127526	ENST00000409648;ENST00000431408	.	.	.	5.14	5.14	0.70334	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.89095	3.005	0.80722	D	1	B;B	0.28552	0.046;0.215	B;B	0.31101	0.04;0.124	T	0.76408	-0.2970	9	0.87932	D	0	-33.249	14.1526	0.65395	1.0:0.0:0.0:0.0	.	176;32	Q96K37;Q9H7U6	S35E1_HUMAN;.	G	176;20	.	ENSP00000387152:V176G	V	-	2	0	SLC35E1	16539946	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.619000	0.90938	1.938000	0.56188	0.459000	0.35465	GTC	SLC35E1	-	pfam_DMT,pfam_UAA	ENSG00000127526		0.562	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	34	0.00	0	A	NM_024881		16678946	16678946	-1	no_errors	ENST00000409648	ensembl	human	known	69_37n	missense	37	38.33	23	SNP	1.000	C
SLC38A5	92745	genome.wustl.edu	37	X	48317085	48317085	+	3'UTR	SNP	T	T	C	rs369185477		TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chrX:48317085T>C	ENST00000376876.3	-	0	2496				SLC38A5_ENST00000376875.1_3'UTR|SLC38A5_ENST00000317669.5_3'UTR|SLC38A5_ENST00000480105.1_5'Flank			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						cctcctcttcttcctcctcct	0.637																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.*234A>G	X.37:g.48317085T>C			B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	RNA	SNP	-	NULL	ENST00000376876.3	37	NULL	CCDS14293.1	X																																																																																			SLC38A5	-	-	ENSG00000017483		0.637	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	40	0.00	0	T	NM_033518		48317085	48317085	-1	no_errors	ENST00000462359	ensembl	human	known	69_37n	rna	48	11.11	6	SNP	0.000	C
SLCO2B1	11309	genome.wustl.edu	37	11	74880301	74880301	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr11:74880301T>A	ENST00000289575.5	+	5	927	c.532T>A	c.(532-534)Tca>Aca	p.S178T	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.S62T|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.S34T|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.S156T	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	178					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TGGCAACTGCTCAAGCTACAC	0.602																																						dbGAP											0													68.0	67.0	67.0					11																	74880301		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.532T>A	11.37:g.74880301T>A	ENSP00000289575:p.Ser178Thr		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S178T	ENST00000289575.5	37	c.532	CCDS8235.1	11	.	.	.	.	.	.	.	.	.	.	T	9.831	1.188333	0.21954	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.07	3.93	0.45458	Major facilitator superfamily domain, general substrate transporter (1);	0.513432	0.20799	N	0.085473	T	0.28101	0.0693	N	0.25957	0.775	0.09310	N	0.999998	P;P	0.37573	0.555;0.6	B;B	0.39935	0.164;0.314	T	0.09487	-1.0672	10	0.17369	T	0.5	.	8.2713	0.31846	0.0:0.0:0.219:0.781	.	34;178	E9PPU8;O94956	.;SO2B1_HUMAN	T	178;62;34;156;54	ENSP00000289575:S178T;ENSP00000434112:S62T;ENSP00000436324:S34T;ENSP00000388912:S156T;ENSP00000434742:S54T	ENSP00000289575:S178T	S	+	1	0	SLCO2B1	74557949	0.001000	0.12720	0.466000	0.27168	0.059000	0.15707	0.087000	0.14958	2.124000	0.65301	0.528000	0.53228	TCA	SLCO2B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000137491		0.602	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	HGNC	protein_coding	OTTHUMT00000383933.1	56	0.00	0	T	NM_007256		74880301	74880301	+1	no_errors	ENST00000289575	ensembl	human	known	69_37n	missense	59	25.32	20	SNP	0.015	A
SMARCA4	6597	genome.wustl.edu	37	19	11152150	11152150	+	Silent	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr19:11152150G>A	ENST00000429416.3	+	31	4619	c.4338G>A	c.(4336-4338)ccG>ccA	p.P1446P	SMARCA4_ENST00000541122.2_Silent_p.P1416P|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Silent_p.P1478P|SMARCA4_ENST00000413806.3_Silent_p.P1416P|SMARCA4_ENST00000344626.4_Silent_p.P1446P|SMARCA4_ENST00000589677.1_Silent_p.P1416P|SMARCA4_ENST00000590574.1_Silent_p.P1413P|SMARCA4_ENST00000444061.3_Silent_p.P1413P|SMARCA4_ENST00000450717.3_Silent_p.P1416P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1446					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGGGCGGCCGCCTGCCGAGA	0.617			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											47.0	49.0	48.0					19																	11152150		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4338G>A	19.37:g.11152150G>A			B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.P1478	ENST00000429416.3	37	c.4434	CCDS12253.1	19																																																																																			SMARCA4	-	superfamily_Bromodomain	ENSG00000127616		0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	105	0.00	0	G	NM_003072		11152150	11152150	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	silent	111	20.14	28	SNP	0.037	A
SOBP	55084	genome.wustl.edu	37	6	107854723	107854723	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr6:107854723G>A	ENST00000317357.5	+	4	1141	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGAATCAAGCGCTATTCCCTG	0.423																																						dbGAP											0													117.0	122.0	120.0					6																	107854723		1937	4143	6080	-	-	-	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.482G>A	6.37:g.107854723G>A	ENSP00000318900:p.Arg161His			Missense_Mutation	SNP	NULL	p.R161H	ENST00000317357.5	37	c.482	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.233541	0.95207	.	.	ENSG00000112320	ENST00000317357	T	0.12255	2.7	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04017	-1.0984	10	0.41790	T	0.15	-15.2423	19.2893	0.94092	0.0:0.0:1.0:0.0	.	161	A7XYQ1	SOBP_HUMAN	H	161	ENSP00000318900:R161H	ENSP00000318900:R161H	R	+	2	0	SOBP	107961416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.558000	0.86282	0.467000	0.42956	CGC	SOBP	-	NULL	ENSG00000112320		0.423	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	62	0.00	0	G	NM_018013		107854723	107854723	+1	no_errors	ENST00000317357	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	1.000	A
SRP72	6731	genome.wustl.edu	37	4	57355634	57355634	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr4:57355634G>T	ENST00000342756.5	+	13	2026	c.1305G>T	c.(1303-1305)tgG>tgT	p.W435C	SRP72_ENST00000510663.1_Missense_Mutation_p.W374C	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	435					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTATCCAGTGGTATCAAAACC	0.343																																						dbGAP											0													110.0	100.0	103.0					4																	57355634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1305G>T	4.37:g.57355634G>T	ENSP00000342181:p.Trp435Cys		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W435C	ENST00000342756.5	37	c.1305	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994378	0.54041	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.36520	1.25;1.25	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.321128	0.40728	N	0.001032	T	0.58366	0.2117	M	0.72353	2.195	0.80722	D	1	D;D;D	0.71674	0.99;0.985;0.998	P;D;P	0.64687	0.789;0.928;0.907	T	0.52298	-0.8594	10	0.37606	T	0.19	.	17.8291	0.88676	0.0:0.0:1.0:0.0	.	374;435;435	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	C	435;380;374;196	ENSP00000342181:W435C;ENSP00000424576:W374C	ENSP00000342181:W435C	W	+	3	0	SRP72	57050391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.849000	0.48286	2.894000	0.99253	0.591000	0.81541	TGG	SRP72	-	smart_TPR_repeat	ENSG00000174780		0.343	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	39	0.00	0	G			57355634	57355634	+1	no_errors	ENST00000342756	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	T
STAG2	10735	genome.wustl.edu	37	X	123200024	123200024	+	Splice_Site	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chrX:123200024G>A	ENST00000371160.1	+	22	2386		c.e22-1		STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttttttACAGTGCCCATGAC	0.289																																						dbGAP											0													42.0	43.0	42.0					X																	123200024		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2097-1G>A	X.37:g.123200024G>A			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e20-1	ENST00000371160.1	37	c.2097-1	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475325	0.84640	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.992	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123027705	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.869000	0.99810	2.433000	0.82419	0.600000	0.82982	.	STAG2	-	-	ENSG00000101972		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	25	0	0	G	NM_006603	Intron	123200024	123200024	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	splice_site	28	26.32	10	SNP	1.000	A
STAG2	10735	genome.wustl.edu	37	X	123200024	123200024	+	Splice_Site	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chrX:123200024G>A	ENST00000371160.1	+	22	2386		c.e22-1		STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttttttACAGTGCCCATGAC	0.289																																						dbGAP											0													42.0	43.0	42.0					X																	123200024		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2097-1G>A	X.37:g.123200024G>A			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e20-1	ENST00000371160.1	37	c.2097-1	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475325	0.84640	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.992	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123027705	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.869000	0.99810	2.433000	0.82419	0.600000	0.82982	.	STAG2	-	-	ENSG00000101972		0.289	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	25	0.00	0	G	NM_006603	Intron	123200024	123200024	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	splice_site	28	26.32	10	SNP	1.000	A
SUCO	51430	genome.wustl.edu	37	1	172558484	172558485	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:172558484_172558485delAA	ENST00000263688.3	+	18	2462_2463	c.2243_2244delAA	c.(2242-2244)gaafs	p.E748fs	SUCO_ENST00000367723.4_Frame_Shift_Del_p.E899fs|SUCO_ENST00000608151.1_Frame_Shift_Del_p.E900fs|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	748					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CCTAAAATAGAAGTATCTGAGT	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2243_2244delAA	1.37:g.172558484_172558485delAA	ENSP00000263688:p.Glu748fs		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.E900fs	ENST00000263688.3	37	c.2699_2700	CCDS1303.1	1																																																																																			SUCO	-	NULL	ENSG00000094975		0.391	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	41	0.00	0	AA	NM_016227		172558484	172558485	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	frame_shift_del	37	19.57	9	DEL	0.917:0.756	-
TP53	7157	genome.wustl.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	rs587781991		TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|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	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)	GGCCAGTTGGCAAAACATCTT	0.572		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"""	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50.0	50.0	50.0					17																	7578526		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.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe		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.C135F	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	54	0.00	0	C	NM_000546		7578526	7578526	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	18	52.63	20	SNP	1.000	A
VAV3	10451	genome.wustl.edu	37	1	108226109	108226109	+	Splice_Site	SNP	C	C	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:108226109C>A	ENST00000370056.4	-	19	2052		c.e19+1		VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000544443.1_Intron|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAGAAACACACCTGGATCCAC	0.398																																						dbGAP											0													150.0	125.0	134.0					1																	108226109		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1777+1G>T	1.37:g.108226109C>A			B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	-	e19+1	ENST00000370056.4	37	c.1777+1	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828673	0.71258	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000415432;ENST00000490388;ENST00000371846	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5933	0.76558	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108027632	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.288000	0.59007	2.467000	0.83353	0.585000	0.79938	.	VAV3	-	-	ENSG00000134215		0.398	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	43	0.00	0	C	NM_006113	Intron	108226109	108226109	-1	no_errors	ENST00000370056	ensembl	human	known	69_37n	splice_site	47	30.88	21	SNP	1.000	A
VWF	7450	genome.wustl.edu	37	12	6128145	6128145	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr12:6128145G>A	ENST00000261405.5	-	28	4693	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1480					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAAGAGCCCCGGGCCCACAGT	0.602																																						dbGAP											0													22.0	30.0	27.0					12																	6128145		2191	4298	6489	-	-	-	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4439C>T	12.37:g.6128145G>A	ENSP00000261405:p.Pro1480Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P1480L	ENST00000261405.5	37	c.4439	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	.	7.497	0.651941	0.14516	.	.	ENSG00000110799	ENST00000261405	T	0.77358	-1.09	4.88	3.06	0.35304	.	0.729994	0.11773	N	0.530956	T	0.80904	0.4713	M	0.89287	3.02	0.58432	D	0.999999	B	0.33345	0.409	B	0.37239	0.244	T	0.78306	-0.2255	10	0.66056	D	0.02	.	7.4245	0.27092	0.15:0.0:0.7156:0.1343	.	1480	P04275	VWF_HUMAN	L	1480	ENSP00000261405:P1480L	ENSP00000261405:P1480L	P	-	2	0	VWF	5998406	0.998000	0.40836	0.011000	0.14972	0.048000	0.14542	1.948000	0.40303	0.667000	0.31107	-0.226000	0.12346	CCG	VWF	-	pirsf_VWF	ENSG00000110799		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	64	0.00	0	G	NM_000552		6128145	6128145	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	50	42.05	37	SNP	0.432	A
WBP11P1	441818	genome.wustl.edu	37	18	30091635	30091635	+	RNA	SNP	T	T	C	rs9954414	byFrequency	TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr18:30091635T>C	ENST00000567636.1	+	0	10					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CAGAGGGGCGTGAGGTTTCAA	0.537													t|||	2732	0.545527	0.3775	0.5418	5008	,	,		15897	0.5784		0.6243	False		,,,				2504	0.6605					dbGAP											0																																										-	-	-			0			BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30091635T>C				RNA	SNP	-	NULL	ENST00000567636.1	37	NULL		18																																																																																			WBP11P1	-	-	ENSG00000260389		0.537	WBP11P1-002	KNOWN	basic	processed_transcript	WBP11P1	HGNC	pseudogene	OTTHUMT00000435119.1	11	0.00	0	T			30091635	30091635	+1	no_errors	ENST00000567636	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.001	C
ZNF555	148254	genome.wustl.edu	37	19	2853678	2853678	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr19:2853678A>G	ENST00000334241.4	+	4	1753	c.1615A>G	c.(1615-1617)Aag>Gag	p.K539E	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.K538E	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATGAATGTAAGGAATGTGG	0.423																																						dbGAP											0													135.0	113.0	120.0					19																	2853678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1615A>G	19.37:g.2853678A>G	ENSP00000334853:p.Lys539Glu		A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K539E	ENST00000334241.4	37	c.1615	CCDS12096.1	19	.	.	.	.	.	.	.	.	.	.	A	14.31	2.498227	0.44455	.	.	ENSG00000186300	ENST00000334241	T	0.08370	3.1	3.06	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.01729	-0.75	0.09310	N	1	D;B	0.55605	0.972;0.062	P;B	0.59595	0.86;0.078	T	0.31943	-0.9925	9	0.42905	T	0.14	.	4.217	0.10539	0.3826:0.4143:0.0:0.2031	.	539;538	Q8NEP9;A8KA89	ZN555_HUMAN;.	E	539	ENSP00000334853:K539E	ENSP00000334853:K539E	K	+	1	0	ZNF555	2804678	0.000000	0.05858	0.639000	0.29394	0.963000	0.63663	-1.923000	0.01567	-0.060000	0.13132	0.459000	0.35465	AAG	ZNF555	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186300		0.423	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	42	0.00	0	A	NM_152791		2853678	2853678	+1	no_errors	ENST00000334241	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.004	G
ZNF648	127665	genome.wustl.edu	37	1	182026518	182026518	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A3XV-01A-21D-A23C-09	TCGA-A2-A3XV-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3656ab22-aa31-4140-b50b-251546635874	9187b604-bc3a-4ed4-9bb2-912e9633ff05	g.chr1:182026518C>T	ENST00000339948.3	-	2	835	c.628G>A	c.(628-630)Gcc>Acc	p.A210T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GACGCCTGGGCTGGTGTATGT	0.647																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0													27.0	33.0	31.0					1																	182026518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.628G>A	1.37:g.182026518C>T	ENSP00000344129:p.Ala210Thr		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A210T	ENST00000339948.3	37	c.628	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.188890	0.38707	.	.	ENSG00000179930	ENST00000339948	T	0.07216	3.21	2.57	2.57	0.30868	.	.	.	.	.	T	0.06096	0.0158	L	0.29908	0.895	0.09310	N	0.999999	P	0.43857	0.819	B	0.39876	0.312	T	0.30446	-0.9978	9	0.38643	T	0.18	.	5.3916	0.16247	0.0:0.8449:0.0:0.1551	.	210	Q5T619	ZN648_HUMAN	T	210	ENSP00000344129:A210T	ENSP00000344129:A210T	A	-	1	0	ZNF648	180293141	0.000000	0.05858	0.005000	0.12908	0.024000	0.10985	-0.122000	0.10627	1.746000	0.51805	0.655000	0.94253	GCC	ZNF648	-	NULL	ENSG00000179930		0.647	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	85	0.00	0	C	XM_060597		182026518	182026518	-1	no_errors	ENST00000339948	ensembl	human	known	69_37n	missense	52	42.86	39	SNP	0.222	T
