#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACO2	50	genome.wustl.edu	37	22	41923399	41923399	+	Silent	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr22:41923399C>T	ENST00000216254.4	+	16	2083	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000396512.3_Silent_p.I712I	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	687					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGGCCATCATCACCAAGAGCT	0.632											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	76.0	79.0					22																	41923399		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.2061C>T	22.37:g.41923399C>T		Somatic	904	WXS	Illumina GAIIx	Phase_IV	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	p.I687	ENST00000216254.4	37	c.2061	CCDS14017.1	22																																																																																			ACO2	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like	ENSG00000100412		0.632	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	HGNC	protein_coding	OTTHUMT00000259151.1	29	0.00	0	C	NM_001098		41923399	41923399	+1	no_errors	ENST00000216254	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	1.000	T
ACTR1A	10121	genome.wustl.edu	37	10	104250366	104250366	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr10:104250366G>C	ENST00000369905.4	-	2	116	c.53C>G	c.(52-54)tCc>tGc	p.S18C	ACTR1A_ENST00000446605.2_Intron|ACTR1A_ENST00000487599.1_Missense_Mutation_p.S18C|ACTR1A_ENST00000545684.1_De_novo_Start_InFrame	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	18					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AATCACACCGGATCCCTGAGG	0.378																																						dbGAP											0													74.0	67.0	70.0					10																	104250366		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.53C>G	10.37:g.104250366G>C	ENSP00000358921:p.Ser18Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S18C	ENST00000369905.4	37	c.53	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675174	0.88445	.	.	ENSG00000138107	ENST00000369905	D	0.98135	-4.74	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	D	0.99345	0.9770	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	19.3975	0.94612	0.0:0.0:1.0:0.0	.	18	P61163	ACTZ_HUMAN	C	18	ENSP00000358921:S18C	ENSP00000358921:S18C	S	-	2	0	ACTR1A	104240356	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.317000	0.96327	2.600000	0.87896	0.305000	0.20034	TCC	ACTR1A	-	pfam_Actin-like,smart_Actin-like	ENSG00000138107		0.378	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	57	0.00	0	G			104250366	104250366	-1	no_errors	ENST00000369905	ensembl	human	known	69_37n	missense	11	71.05	27	SNP	1.000	C
AK9	221264	genome.wustl.edu	37	6	109818699	109818699	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:109818699C>T	ENST00000424296.2	-	38	5360	c.5284G>A	c.(5284-5286)Gag>Aag	p.E1762K	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1762					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTTTGTTCTCACAAATATAT	0.343																																						dbGAP											0													45.0	49.0	48.0					6																	109818699		2200	4300	6500	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5284G>A	6.37:g.109818699C>T	ENSP00000410186:p.Glu1762Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.E1762K	ENST00000424296.2	37	c.5284	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658781	0.47467	.	.	ENSG00000155085	ENST00000424296	T	0.66280	-0.2	5.05	5.05	0.67936	.	0.047986	0.85682	D	0.000000	T	0.66366	0.2782	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.71184	0.844;0.972	T	0.67480	-0.5660	9	.	.	.	.	11.496	0.50408	0.1378:0.7288:0.1334:0.0	.	147;1762	B7ZL24;Q5TCS8	.;AKD1_HUMAN	K	1762	ENSP00000410186:E1762K	.	E	-	1	0	AKD1	109925392	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.437000	0.66544	2.325000	0.78763	0.561000	0.74099	GAG	AKD1	-	NULL	ENSG00000155085		0.343	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		59	0.00	0	C	NM_001145128		109818699	109818699	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	1.000	T
ALDH16A1	126133	genome.wustl.edu	37	19	49964940	49964940	+	Silent	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr19:49964940G>C	ENST00000293350.4	+	6	805	c.642G>C	c.(640-642)gcG>gcC	p.A214A	ALDH16A1_ENST00000540132.1_Silent_p.A51A|ALDH16A1_ENST00000455361.2_Silent_p.A214A|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.A49A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	214						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCAGCTGGCGGGGGAGCTGG	0.721																																						dbGAP											0													10.0	11.0	11.0					19																	49964940		2192	4273	6465	-	-	-	SO:0001819	synonymous_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.642G>C	19.37:g.49964940G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.A214	ENST00000293350.4	37	c.642	CCDS12766.1	19																																																																																			ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.721	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	8	0.00	0	G	NM_153329		49964940	49964940	+1	no_errors	ENST00000293350	ensembl	human	known	69_37n	silent	4	60.00	6	SNP	0.976	C
ASB17	127247	genome.wustl.edu	37	1	76397787	76397787	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:76397787C>T	ENST00000284142.6	-	1	329	c.190G>A	c.(190-192)Gac>Aac	p.D64N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	64					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AGTAGTGCGTCAAAACCATCC	0.393																																						dbGAP											0													152.0	139.0	144.0					1																	76397787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.190G>A	1.37:g.76397787C>T	ENSP00000284142:p.Asp64Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.D64N	ENST00000284142.6	37	c.190	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058833	0.55325	.	.	ENSG00000154007	ENST00000284142	T	0.35421	1.31	6.08	6.08	0.98989	.	0.098289	0.44688	D	0.000432	T	0.30665	0.0772	L	0.27053	0.805	0.39985	D	0.974973	D	0.62365	0.991	P	0.53760	0.734	T	0.06127	-1.0844	10	0.72032	D	0.01	.	16.1648	0.81747	0.0:1.0:0.0:0.0	.	64	Q8WXJ9	ASB17_HUMAN	N	64	ENSP00000284142:D64N	ENSP00000284142:D64N	D	-	1	0	ASB17	76170375	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	2.580000	0.46068	2.890000	0.99128	0.655000	0.94253	GAC	ASB17	-	NULL	ENSG00000154007		0.393	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	73	0.00	0	C	NM_080868		76397787	76397787	-1	no_errors	ENST00000284142	ensembl	human	known	69_37n	missense	47	34.72	25	SNP	1.000	T
C16orf86	388284	genome.wustl.edu	37	16	67701972	67701972	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr16:67701972C>T	ENST00000403458.4	+	3	679	c.524C>T	c.(523-525)tCt>tTt	p.S175F	ENKD1_ENST00000243878.4_5'Flank|C16orf86_ENST00000602974.1_3'UTR|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	175										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCATGGTGTCTGCACCCTTA	0.617											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	65.0	68.0					16																	67701972		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.524C>T	16.37:g.67701972C>T	ENSP00000384117:p.Ser175Phe	Somatic	1101	WXS	Illumina GAIIx	Phase_IV	B5MCW6	Missense_Mutation	SNP	NULL	p.S175F	ENST00000403458.4	37	c.524	CCDS32468.2	16	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284168	0.23392	.	.	ENSG00000159761	ENST00000403458	.	.	.	5.19	4.22	0.49857	.	.	.	.	.	T	0.47525	0.1450	L	0.29908	0.895	0.09310	N	1	D	0.58620	0.983	P	0.58873	0.847	T	0.34403	-0.9830	8	0.62326	D	0.03	-0.2484	11.918	0.52776	0.0:0.6611:0.3389:0.0	.	175	Q6ZW13	CP086_HUMAN	F	175	.	ENSP00000384117:S175F	S	+	2	0	C16orf86	66259473	0.001000	0.12720	0.006000	0.13384	0.012000	0.07955	1.182000	0.32029	1.384000	0.46424	0.467000	0.42956	TCT	C16orf86	-	NULL	ENSG00000159761		0.617	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	22	0.00	0	C	NM_001012984		67701972	67701972	+1	no_errors	ENST00000403458	ensembl	human	known	69_37n	missense	7	63.16	12	SNP	0.001	T
CDC14B	8555	genome.wustl.edu	37	9	99271985	99271985	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr9:99271985C>G	ENST00000375241.1	-	13	1881	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375240.3_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.R440T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	477					activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TGAAGCAGATCTGGTGGTTCT	0.383																																						dbGAP											0													133.0	125.0	128.0					9																	99271985		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1430G>C	9.37:g.99271985C>G	ENSP00000364389:p.Arg477Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R477T	ENST00000375241.1	37	c.1430	CCDS6722.1	9	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772553	0.31411	.	.	ENSG00000081377	ENST00000375241;ENST00000375242	D;D	0.93133	-3.17;-3.12	5.2	5.2	0.72013	.	0.308908	0.33534	N	0.004806	D	0.93851	0.8033	L	0.29908	0.895	0.80722	D	1	D;P	0.76494	0.999;0.956	D;B	0.78314	0.991;0.344	D	0.90656	0.4586	10	0.13108	T	0.6	-2.9318	18.9229	0.92532	0.0:1.0:0.0:0.0	.	477;440	O60729;A8MQ20	CC14B_HUMAN;.	T	477;440	ENSP00000364389:R477T;ENSP00000364390:R440T	ENSP00000364389:R477T	R	-	2	0	CDC14B	98311806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.178000	0.58284	2.708000	0.92522	0.555000	0.69702	AGA	CDC14B	-	NULL	ENSG00000081377		0.383	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC14B	HGNC	protein_coding	OTTHUMT00000053278.2	117	0.00	0	C	NM_033331		99271985	99271985	-1	no_errors	ENST00000375241	ensembl	human	known	69_37n	missense	63	26.74	23	SNP	1.000	G
CHRDL1	91851	genome.wustl.edu	37	X	109963075	109963075	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:109963075G>A	ENST00000372045.1	-	6	639	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	CHRDL1_ENST00000394797.4_Missense_Mutation_p.R176W|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R177W|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R176W|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R176W			Q9BU40	CRDL1_HUMAN	chordin-like 1	170	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CTGCATACCCGGCAGCAGGAA	0.478																																						dbGAP											0													108.0	96.0	100.0					X																	109963075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.508C>T	X.37:g.109963075G>A	ENSP00000361115:p.Arg170Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.R177W	ENST00000372045.1	37	c.529		X	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433384	0.62844	.	.	ENSG00000101938	ENST00000372045;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000444321	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.92	2.92	0.33932	von Willebrand factor, type C (4);	0.140928	0.48286	D	0.000196	T	0.68622	0.3021	L	0.29908	0.895	0.32376	N	0.555192	D;P;D;D;D	0.69078	0.994;0.894;0.994;0.997;0.994	P;B;P;P;P	0.57720	0.826;0.231;0.589;0.826;0.826	T	0.71391	-0.4607	9	.	.	.	-2.4427	10.6993	0.45918	0.0:0.0:0.5469:0.4531	.	176;171;156;170;177	E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6	.;.;.;CRDL1_HUMAN;.	W	170;176;176;177;176	ENSP00000361115:R170W;ENSP00000218054:R176W;ENSP00000378276:R176W;ENSP00000361112:R177W;ENSP00000399739:R176W	.	R	-	1	2	CHRDL1	109849731	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	1.966000	0.40481	0.382000	0.24878	0.468000	0.43344	CGG	CHRDL1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000101938		0.478	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	HGNC	protein_coding	OTTHUMT00000057912.1	39	0.00	0	G	NM_145234		109963075	109963075	-1	no_errors	ENST00000372042	ensembl	human	known	69_37n	missense	23	52.08	25	SNP	1.000	A
CKAP2	26586	genome.wustl.edu	37	13	53042449	53042449	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr13:53042449C>G	ENST00000378037.5	+	7	1606	c.1516C>G	c.(1516-1518)Cta>Gta	p.L506V	CKAP2_ENST00000490903.1_Missense_Mutation_p.L457V|CKAP2_ENST00000258607.5_Missense_Mutation_p.L505V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGTAGATATTCTAACAATGAA	0.279																																						dbGAP											0													93.0	98.0	96.0					13																	53042449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1516C>G	13.37:g.53042449C>G	ENSP00000367276:p.Leu506Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L506V	ENST00000378037.5	37	c.1516	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	15.46	2.841086	0.51057	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.39406	1.08;1.08;1.08	5.53	0.717	0.18196	.	0.473505	0.19339	N	0.116696	T	0.39091	0.1065	M	0.78223	2.4	0.25619	N	0.986428	P;P;P	0.51351	0.875;0.944;0.944	B;B;B	0.43301	0.341;0.415;0.415	T	0.32929	-0.9888	10	0.45353	T	0.12	-4.451	3.7827	0.08687	0.2941:0.4768:0.0:0.2291	.	457;506;505	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	V	505;506;457	ENSP00000258607:L505V;ENSP00000367276:L506V;ENSP00000417830:L457V	ENSP00000258607:L505V	L	+	1	2	CKAP2	51940450	0.993000	0.37304	0.988000	0.46212	0.998000	0.95712	-0.060000	0.11712	-0.197000	0.10350	0.655000	0.94253	CTA	CKAP2	-	NULL	ENSG00000136108		0.279	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	108	0.00	0	C			53042449	53042449	+1	no_errors	ENST00000378037	ensembl	human	known	69_37n	missense	26	55.17	32	SNP	0.996	G
CREBBP	1387	genome.wustl.edu	37	16	3777933	3777933	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr16:3777933G>A	ENST00000262367.5	-	31	7924	c.7115C>T	c.(7114-7116)tCg>tTg	p.S2372L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2334L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2372					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGTGTGGCGAAGGCTGGGG	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													97.0	95.0	96.0					16																	3777933		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.7115C>T	16.37:g.3777933G>A	ENSP00000262367:p.Ser2372Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S2372L	ENST00000262367.5	37	c.7115	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	14.22	2.469776	0.43839	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.90444	-2.67;-2.61	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000006	D	0.92463	0.7607	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	D	0.92050	0.5647	10	0.42905	T	0.14	-10.9683	18.4232	0.90598	0.0:0.0:1.0:0.0	.	2402;2372	Q4LE28;Q92793	.;CBP_HUMAN	L	2372;2402;2334;907	ENSP00000262367:S2372L;ENSP00000371502:S2334L	ENSP00000262367:S2372L	S	-	2	0	CREBBP	3717934	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	9.467000	0.97671	2.668000	0.90789	0.655000	0.94253	TCG	CREBBP	-	NULL	ENSG00000005339		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	56	0.00	0	G	NM_004380		3777933	3777933	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	39	45.83	33	SNP	1.000	A
CSF1	1435	genome.wustl.edu	37	1	110466502	110466502	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:110466502C>G	ENST00000329608.6	+	6	1650	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.S420C|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	420	O-glycosylated at one site.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCACCCTCTCTGCTCAGCCA	0.672																																						dbGAP											0													39.0	51.0	47.0					1																	110466502		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1259C>G	1.37:g.110466502C>G	ENSP00000327513:p.Ser420Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.S420C	ENST00000329608.6	37	c.1259	CCDS816.1	1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768810	0.49680	.	.	ENSG00000184371	ENST00000329608;ENST00000369802	T;T	0.12984	2.63;2.63	4.46	2.54	0.30619	.	0.767392	0.11103	N	0.599473	T	0.12347	0.0300	L	0.57536	1.79	0.09310	N	0.999998	D	0.69078	0.997	P	0.60173	0.87	T	0.11891	-1.0569	10	0.38643	T	0.18	.	6.4803	0.22060	0.18:0.7246:0.0:0.0954	.	420	P09603	CSF1_HUMAN	C	420	ENSP00000327513:S420C;ENSP00000358817:S420C	ENSP00000327513:S420C	S	+	2	0	CSF1	110268025	0.000000	0.05858	0.002000	0.10522	0.559000	0.35586	0.636000	0.24644	0.595000	0.29777	0.467000	0.42956	TCT	CSF1	-	pfam_MCSF-1,pirsf_MCSF-1	ENSG00000184371		0.672	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1	21	0.00	0	C	NM_000757		110466502	110466502	+1	no_errors	ENST00000329608	ensembl	human	known	69_37n	missense	10	61.54	16	SNP	0.001	G
CYP4F22	126410	genome.wustl.edu	37	19	15636257	15636257	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr19:15636257G>A	ENST00000269703.3	+	3	309	c.110G>A	c.(109-111)cGc>cAc	p.R37H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R37H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	37						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TTCCTGTTCCGCCTGCTGCTG	0.652																																						dbGAP											0													124.0	92.0	103.0					19																	15636257		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.110G>A	19.37:g.15636257G>A	ENSP00000269703:p.Arg37His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8H4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R37H	ENST00000269703.3	37	c.110	CCDS12331.1	19	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794569	0.70452	.	.	ENSG00000171954	ENST00000269703	D	0.90955	-2.76	4.84	4.84	0.62591	.	0.209202	0.41097	D	0.000946	T	0.79598	0.4473	N	0.08118	0	0.36108	D	0.844571	B	0.11235	0.004	B	0.06405	0.002	T	0.76841	-0.2810	10	0.15499	T	0.54	.	13.8307	0.63380	0.0:0.0:1.0:0.0	.	37	Q6NT55	CP4FN_HUMAN	H	37	ENSP00000269703:R37H	ENSP00000269703:R37H	R	+	2	0	CYP4F22	15497257	0.998000	0.40836	0.625000	0.29200	0.863000	0.49368	1.935000	0.40173	2.366000	0.80165	0.655000	0.94253	CGC	CYP4F22	-	NULL	ENSG00000171954		0.652	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	75	0.00	0	G	NM_173483		15636257	15636257	+1	no_errors	ENST00000269703	ensembl	human	known	69_37n	missense	58	35.56	32	SNP	0.960	A
DRD5	1816	genome.wustl.edu	37	4	9784305	9784305	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr4:9784305G>A	ENST00000304374.2	+	1	1048	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	218					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGAGAACTGTGACTCCAGCCT	0.592																																						dbGAP											0													84.0	77.0	79.0					4																	9784305		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.652G>A	4.37:g.9784305G>A	ENSP00000306129:p.Asp218Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt	p.D218N	ENST00000304374.2	37	c.652	CCDS3405.1	4	.	.	.	.	.	.	.	.	.	.	g	19.81	3.896253	0.72639	.	.	ENSG00000169676	ENST00000304374	T	0.39997	1.05	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.43923	1.385	0.52099	D	0.999944	D	0.89917	1.0	D	0.81914	0.995	T	0.56872	-0.7907	10	0.48119	T	0.1	.	16.601	0.84815	0.0:0.0:1.0:0.0	.	218	P21918	DRD5_HUMAN	N	218	ENSP00000306129:D218N	ENSP00000306129:D218N	D	+	1	0	DRD5	9393403	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.346000	0.79347	2.387000	0.81309	0.305000	0.20034	GAC	DRD5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169676		0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	29	0.00	0	G			9784305	9784305	+1	no_errors	ENST00000304374	ensembl	human	known	69_37n	missense	18	41.94	13	SNP	1.000	A
EDN3	1908	genome.wustl.edu	37	20	57876517	57876517	+	Silent	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr20:57876517G>A	ENST00000337938.2	+	2	491	c.105G>A	c.(103-105)caG>caA	p.Q35Q	EDN3_ENST00000395654.3_Silent_p.Q35Q|EDN3_ENST00000311585.7_Silent_p.Q35Q|EDN3_ENST00000371025.3_Silent_p.Q35Q|EDN3_ENST00000371028.2_Silent_p.Q35Q	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	35					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GCGTGTCCCAGGCCCCCACTG	0.662																																						dbGAP											0													27.0	31.0	30.0					20																	57876517		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.105G>A	20.37:g.57876517G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.Q35	ENST00000337938.2	37	c.105	CCDS13477.1	20																																																																																			EDN3	-	NULL	ENSG00000124205		0.662	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDN3	HGNC	protein_coding	OTTHUMT00000079919.2	14	0.00	0	G	NM_000114		57876517	57876517	+1	no_errors	ENST00000337938	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	0.002	A
EPG5	57724	genome.wustl.edu	37	18	43502498	43502498	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr18:43502498C>G	ENST00000282041.5	-	16	2941	c.2907G>C	c.(2905-2907)tgG>tgC	p.W969C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	969					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGATTAAATTCCAGGCCCATT	0.413																																						dbGAP											0													98.0	105.0	103.0					18																	43502498		1889	4107	5996	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2907G>C	18.37:g.43502498C>G	ENSP00000282041:p.Trp969Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.W969C	ENST00000282041.5	37	c.2907	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565547	0.86439	.	.	ENSG00000152223	ENST00000282041	T	0.51325	0.71	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70153	-0.4950	10	0.87932	D	0	-8.1172	20.428	0.99075	0.0:1.0:0.0:0.0	.	969;969	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	969	ENSP00000282041:W969C	ENSP00000282041:W969C	W	-	3	0	EPG5	41756496	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.806000	0.86020	2.837000	0.97791	0.655000	0.94253	TGG	EPG5	-	NULL	ENSG00000152223		0.413	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	32	0.00	0	C	NM_020964		43502498	43502498	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	G
FAM193B	54540	genome.wustl.edu	37	5	176951919	176951919	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr5:176951919A>C	ENST00000514747.1	-	6	1611	c.1563T>G	c.(1561-1563)agT>agG	p.S521R	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.S147R|FAM193B_ENST00000443375.2_Missense_Mutation_p.S488R	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	601						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CTGAGGAGCCACTGAGGTTTG	0.587																																						dbGAP											0													39.0	42.0	41.0					5																	176951919		2058	4211	6269	-	-	-	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1563T>G	5.37:g.176951919A>C	ENSP00000422131:p.Ser521Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.S488R	ENST00000514747.1	37	c.1464	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.64|12.64	1.997796|1.997796	0.35226|0.35226	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.44881|.	0.91;0.92;0.92|.	5.88|5.88	3.55|3.55	0.40652|0.40652	.|.	0.270973|.	0.46145|.	D|.	0.000314|.	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.22421|0.22421	0.69|0.69	0.30689|0.30689	N|N	0.751471|0.751471	B;B;B|.	0.26258|.	0.145;0.145;0.096|.	B;B;B|.	0.23852|.	0.033;0.033;0.049|.	T|T	0.28618|0.28618	-1.0038|-1.0038	10|5	0.66056|.	D|.	0.02|.	-0.1757|-0.1757	9.602|9.602	0.39609|0.39609	0.8018:0.0:0.1982:0.0|0.8018:0.0:0.1982:0.0	.|.	521;147;488|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	R|G	521;488;147|207	ENSP00000422131:S521R;ENSP00000410098:S488R;ENSP00000332014:S147R|.	ENSP00000332014:S147R|.	S|W	-|-	3|1	2|0	FAM193B|FAM193B	176884525|176884525	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.709000|0.709000	0.40893|0.40893	0.509000|0.509000	0.22707|0.22707	1.058000|1.058000	0.40530|0.40530	-0.250000|-0.250000	0.11733|0.11733	AGT|TGG	FAM193B	-	NULL	ENSG00000146067		0.587	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	33	0.00	0	A	NM_019057		176951919	176951919	-1	no_errors	ENST00000443375	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	1.000	C
FASLG	356	genome.wustl.edu	37	1	172634780	172634780	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:172634780C>A	ENST00000367721.2	+	4	654	c.470C>A	c.(469-471)tCc>tAc	p.S157Y	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AACTCAAGGTCCATGCCTCTG	0.438																																					Ovarian(28;486 876 30334 44033)	dbGAP											0													115.0	102.0	106.0					1																	172634780		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.470C>A	1.37:g.172634780C>A	ENSP00000356694:p.Ser157Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZP9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C,pfscan_TNF	p.S157Y	ENST00000367721.2	37	c.470	CCDS1304.1	1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723578	0.48728	.	.	ENSG00000117560	ENST00000367721	T	0.65178	-0.14	5.24	4.27	0.50696	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.344349	0.28828	N	0.014014	T	0.48624	0.1510	L	0.32530	0.975	0.42167	D	0.991626	D	0.62365	0.991	P	0.51999	0.687	T	0.56312	-0.8000	10	0.72032	D	0.01	-24.0064	9.4579	0.38767	0.1474:0.6909:0.1617:0.0	.	157	P48023	TNFL6_HUMAN	Y	157	ENSP00000356694:S157Y	ENSP00000356694:S157Y	S	+	2	0	FASLG	170901403	0.270000	0.24152	1.000000	0.80357	0.779000	0.44077	0.903000	0.28475	2.455000	0.83008	0.650000	0.86243	TCC	FASLG	-	superfamily_Tumour_necrosis_fac-like,smart_TNF,prints_Fas_ligand,pfscan_TNF	ENSG00000117560		0.438	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1	56	0.00	0	C			172634780	172634780	+1	no_errors	ENST00000367721	ensembl	human	known	69_37n	missense	36	41.94	26	SNP	0.597	A
FHOD1	29109	genome.wustl.edu	37	16	67265711	67265711	+	Silent	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr16:67265711G>A	ENST00000258201.4	-	15	2461	c.2214C>T	c.(2212-2214)acC>acT	p.T738T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	738	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGGCATCATGGTCAGTAGCT	0.587																																						dbGAP											0													58.0	55.0	56.0					16																	67265711		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2214C>T	16.37:g.67265711G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd	p.H98Y	ENST00000258201.4	37	c.292	CCDS10834.1	16																																																																																			FHOD1	-	NULL	ENSG00000135723		0.587	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	62	0.00	0	G			67265711	67265711	-1	no_start_codon	ENST00000567509	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.998	A
FLCN	201163	genome.wustl.edu	37	17	17122397	17122397	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr17:17122397G>C	ENST00000285071.4	-	9	1452	c.998C>G	c.(997-999)tCa>tGa	p.S333*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	333					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCACAGCCTGAGAGAGAGGA	0.642									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													dbGAP											0													61.0	75.0	70.0					17																	17122397		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.998C>G	17.37:g.17122397G>C	ENSP00000285071:p.Ser333*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Nonsense_Mutation	SNP	pfam_Folliculin	p.S333*	ENST00000285071.4	37	c.998	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.524858	0.97637	.	.	ENSG00000154803	ENST00000285071	.	.	.	5.83	3.86	0.44501	.	0.305004	0.36628	N	0.002495	.	.	.	.	.	.	0.19945	N	0.999948	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-20.2761	10.3878	0.44152	0.2086:0.0:0.7914:0.0	.	.	.	.	X	333	.	ENSP00000285071:S333X	S	-	2	0	FLCN	17063122	0.773000	0.28580	0.002000	0.10522	0.044000	0.14063	2.431000	0.44775	0.808000	0.34231	0.655000	0.94253	TCA	FLCN	-	NULL	ENSG00000154803		0.642	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	54	0.00	0	G	NM_144606		17122397	17122397	-1	no_errors	ENST00000285071	ensembl	human	known	69_37n	nonsense	8	60.87	14	SNP	0.007	C
GABRA1	2554	genome.wustl.edu	37	5	161302575	161302575	+	Silent	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr5:161302575G>A	ENST00000428797.2	+	7	841	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GABRA1_ENST00000437025.2_Silent_p.V162V|GABRA1_ENST00000420560.1_Silent_p.V162V|GABRA1_ENST00000023897.6_Silent_p.V162V|GABRA1_ENST00000393943.4_Silent_p.V162V|GABRA1_ENST00000444819.1_Silent_p.V162V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	162					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGCTGACAGTGAGAGCTGAAT	0.368																																						dbGAP											0													172.0	168.0	169.0					5																	161302575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.486G>A	5.37:g.161302575G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V162	ENST00000428797.2	37	c.486	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.368	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	103	0.00	0	G	NM_000806.5		161302575	161302575	+1	no_errors	ENST00000023897	ensembl	human	known	69_37n	silent	84	24.32	27	SNP	1.000	A
GALNT2	2590	genome.wustl.edu	37	1	230381835	230381835	+	Silent	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:230381835C>A	ENST00000366672.4	+	8	828	c.756C>A	c.(754-756)atC>atA	p.I252I	GALNT2_ENST00000543760.1_Silent_p.I214I|GALNT2_ENST00000541865.1_Silent_p.I162I	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	252					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGTCACCCATCATCGATGTCA	0.483																																						dbGAP											0													166.0	150.0	155.0					1																	230381835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.756C>A	1.37:g.230381835C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I252	ENST00000366672.4	37	c.756	CCDS1582.1	1																																																																																			GALNT2	-	pfam_Glyco_trans_2	ENSG00000143641		0.483	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	101	0.00	0	C	NM_004481		230381835	230381835	+1	no_errors	ENST00000366672	ensembl	human	known	69_37n	silent	96	24.41	31	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8111433	8111434	+	Splice_Site	DEL	CA	CA	-	rs111853237		TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr10:8111433_8111434delCA	ENST00000346208.3	+	5	1376		c.e5-1		GATA3_ENST00000379328.3_Splice_Site|GATA3_ENST00000461472.1_Splice_Site			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(7)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCCCACTCTCAGTCTGCAGCC	0.48			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	7	Unknown(7)	breast(7)																																								-	-	-	SO:0001630	splice_region_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.922-1CA>-	10.37:g.8111433_8111434delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Splice_Site	DEL	-	e4-2	ENST00000346208.3	37	c.925-3_925-2	CCDS7083.1	10																																																																																			GATA3	-	-	ENSG00000107485		0.480	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	42	0	0	CA	NM_001002295	Intron	8111433	8111434	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	splice_site_del	19	40.62	13	DEL	1.000:1.000	-
GBF1	8729	genome.wustl.edu	37	10	104139146	104139146	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr10:104139146G>C	ENST00000369983.3	+	34	4857	c.4597G>C	c.(4597-4599)Gat>Cat	p.D1533H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1533					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATTGAAGCTGATTCTCGCAC	0.597																																						dbGAP											0													60.0	55.0	57.0					10																	104139146		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4597G>C	10.37:g.104139146G>C	ENSP00000359000:p.Asp1533His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.D1533H	ENST00000369983.3	37	c.4597	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088185	0.76642	.	.	ENSG00000107862	ENST00000369983	T	0.11063	2.81	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.997;0.993;0.999	P;P;D	0.81914	0.898;0.862;0.995	T	0.00525	-1.1689	10	0.48119	T	0.1	-14.1156	18.5757	0.91154	0.0:0.0:1.0:0.0	.	1529;1529;1533	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	1533	ENSP00000359000:D1533H	ENSP00000359000:D1533H	D	+	1	0	GBF1	104129136	1.000000	0.71417	0.961000	0.40146	0.649000	0.38597	9.612000	0.98347	2.614000	0.88457	0.561000	0.74099	GAT	GBF1	-	NULL	ENSG00000107862		0.597	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	24	0.00	0	G			104139146	104139146	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	missense	7	72.00	18	SNP	1.000	C
GRIK2	2898	genome.wustl.edu	37	6	102069879	102069879	+	Silent	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:102069879C>T	ENST00000421544.1	+	2	661	c.171C>T	c.(169-171)ttC>ttT	p.F57F	GRIK2_ENST00000369134.4_Silent_p.F8F|GRIK2_ENST00000318991.6_Silent_p.F57F|GRIK2_ENST00000369137.3_Silent_p.F57F|GRIK2_ENST00000369138.1_Silent_p.F57F|GRIK2_ENST00000413795.1_Silent_p.F57F|GRIK2_ENST00000358361.3_Silent_p.F57F	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	57					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AACTTGCATTCAGATTTGCTG	0.353																																						dbGAP											0													97.0	90.0	92.0					6																	102069879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.171C>T	6.37:g.102069879C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F57	ENST00000421544.1	37	c.171	CCDS5048.1	6																																																																																			GRIK2	-	pfam_ANF_lig-bd_rcpt	ENSG00000164418		0.353	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	53	0.00	0	C			102069879	102069879	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	silent	26	42.22	19	SNP	1.000	T
GRIK5	2901	genome.wustl.edu	37	19	42558054	42558054	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr19:42558054C>A	ENST00000262895.3	-	9	1083	c.1084G>T	c.(1084-1086)Gtc>Ttc	p.V362F	GRIK5_ENST00000301218.4_Missense_Mutation_p.V362F|GRIK5_ENST00000593562.1_Missense_Mutation_p.V362F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	362					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTGAACTCGACCCGCCCGGTC	0.642																																						dbGAP											0													68.0	58.0	61.0					19																	42558054		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1084G>T	19.37:g.42558054C>A	ENSP00000262895:p.Val362Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V362F	ENST00000262895.3	37	c.1084	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.272444	0.95429	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.23147	1.92;1.92	5.31	5.31	0.75309	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.44265	0.1285	L	0.55990	1.75	0.58432	D	0.99999	D	0.57899	0.981	P	0.58820	0.846	T	0.36601	-0.9741	10	0.87932	D	0	.	17.7443	0.88415	0.0:1.0:0.0:0.0	.	362	Q16478	GRIK5_HUMAN	F	362	ENSP00000262895:V362F;ENSP00000301218:V362F	ENSP00000262895:V362F	V	-	1	0	GRIK5	47249894	0.901000	0.30685	0.996000	0.52242	0.969000	0.65631	1.928000	0.40104	2.477000	0.83638	0.563000	0.77884	GTC	GRIK5	-	pfam_ANF_lig-bd_rcpt	ENSG00000105737		0.642	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	48	0.00	0	C			42558054	42558054	-1	no_errors	ENST00000301218	ensembl	human	known	69_37n	missense	29	44.23	23	SNP	1.000	A
GUCY2F	2986	genome.wustl.edu	37	X	108635297	108635297	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:108635297A>T	ENST00000218006.2	-	14	2915	c.2624T>A	c.(2623-2625)gTt>gAt	p.V875D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	875					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTCAGGTTCAACTGTGCAGCC	0.488																																						dbGAP											0													87.0	72.0	77.0					X																	108635297		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2624T>A	X.37:g.108635297A>T	ENSP00000218006:p.Val875Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.V875D	ENST00000218006.2	37	c.2624	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416177	0.62511	.	.	ENSG00000101890	ENST00000218006	D	0.85258	-1.96	4.2	3.01	0.34805	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90807	0.4698	10	0.87932	D	0	.	8.3742	0.32434	0.8035:0.1965:0.0:0.0	.	875	P51841	GUC2F_HUMAN	D	875	ENSP00000218006:V875D	ENSP00000218006:V875D	V	-	2	0	GUCY2F	108521953	1.000000	0.71417	0.147000	0.22382	0.985000	0.73830	7.245000	0.78237	0.723000	0.32274	0.417000	0.27973	GTT	GUCY2F	-	superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000101890		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	32	0.00	0	A	NM_001522		108635297	108635297	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	missense	31	39.62	21	SNP	0.964	T
ICA1	3382	genome.wustl.edu	37	7	8153625	8153625	+	Silent	SNP	A	A	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr7:8153625A>G	ENST00000402384.3	-	14	1646	c.1380T>C	c.(1378-1380)gcT>gcC	p.A460A	ICA1_ENST00000422063.2_Silent_p.A489A|ICA1_ENST00000396675.3_Silent_p.A460A|ICA1_ENST00000406470.2_Silent_p.A460A|ICA1_ENST00000265577.7_Silent_p.A459A|ICA1_ENST00000401396.1_Silent_p.A448A|AC006042.6_ENST00000449931.1_RNA			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	460					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGTCGAGGTCAGCGAAGAGGC	0.517																																						dbGAP											0													139.0	126.0	131.0					7																	8153625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1380T>C	7.37:g.8153625A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.A489	ENST00000402384.3	37	c.1467	CCDS34602.1	7																																																																																			ICA1	-	pfam_Islet_autoAg_Ica1_C	ENSG00000003147		0.517	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	66	0.00	0	A	NM_004968		8153625	8153625	-1	no_errors	ENST00000422063	ensembl	human	known	69_37n	silent	42	34.38	22	SNP	0.997	G
IL1RN	3557	genome.wustl.edu	37	2	113888714	113888714	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr2:113888714G>A	ENST00000409930.3	+	3	362	c.298G>A	c.(298-300)Gag>Aag	p.E100K	IL1RN_ENST00000259206.5_Missense_Mutation_p.E103K|IL1RN_ENST00000361779.3_Missense_Mutation_p.E66K|IL1RN_ENST00000409052.1_Missense_Mutation_p.E66K|IL1RN_ENST00000354115.2_Missense_Mutation_p.E82K	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	100					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	GTCTGGTGATGAGACCAGACT	0.453									Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											0													123.0	109.0	114.0					2																	113888714		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Lichen Sclerosis, Familial	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.298G>A	2.37:g.113888714G>A	ENSP00000387173:p.Glu100Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	p.E103K	ENST00000409930.3	37	c.307	CCDS46396.1	2	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349009	0.24426	.	.	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.19	0.131	0.14755	.	0.801146	0.11583	N	0.549569	T	0.08891	0.0220	N	0.20530	0.585	0.09310	N	1	B;B;B	0.18741	0.002;0.011;0.03	B;B;B	0.28139	0.006;0.03;0.086	T	0.44034	-0.9354	10	0.12430	T	0.62	-26.588	3.7471	0.08552	0.4575:0.1919:0.3506:0.0	.	100;82;103	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	K	66;66;103;82;100	ENSP00000387210:E66K;ENSP00000354816:E66K;ENSP00000259206:E103K;ENSP00000329072:E82K;ENSP00000387173:E100K	ENSP00000259206:E103K	E	+	1	0	IL1RN	113605185	0.035000	0.19736	0.014000	0.15608	0.733000	0.41908	0.352000	0.20113	0.157000	0.19338	-0.140000	0.14226	GAG	IL1RN	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1	ENSG00000136689		0.453	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	HGNC	protein_coding	OTTHUMT00000330802.1	44	0.00	0	G	NM_173841		113888714	113888714	+1	no_errors	ENST00000259206	ensembl	human	known	69_37n	missense	28	40.43	19	SNP	0.001	A
IMMP2L	83943	genome.wustl.edu	37	7	111127384	111127384	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr7:111127384G>A	ENST00000405709.2	-	3	591	c.149C>T	c.(148-150)cCt>cTt	p.P50L	IMMP2L_ENST00000452895.1_Missense_Mutation_p.P50L|IMMP2L_ENST00000437687.1_Missense_Mutation_p.P50L|IMMP2L_ENST00000447215.1_Missense_Mutation_p.P50L|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P50L|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P50L	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	50					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GCTCCCCCCAGGATTCAAAGA	0.413																																						dbGAP											0													76.0	73.0	74.0					7																	111127384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.149C>T	7.37:g.111127384G>A	ENSP00000384966:p.Pro50Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.P50L	ENST00000405709.2	37	c.149	CCDS5753.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470132	0.84533	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000415362;ENST00000447215;ENST00000437687;ENST00000452753	.	.	.	5.47	5.47	0.80525	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72340	-0.4323	9	0.22109	T	0.4	-17.9944	19.3385	0.94332	0.0:0.0:1.0:0.0	.	50;50	Q96T52-2;Q96T52	.;IMP2L_HUMAN	L	50	.	ENSP00000329553:P50L	P	-	2	0	IMMP2L	110914620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.432000	0.80349	2.579000	0.87056	0.655000	0.94253	CCT	IMMP2L	-	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Pept_S26A_signal_pept_1	ENSG00000184903		0.413	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	48	0.00	0	G	NM_032549		111127384	111127384	-1	no_errors	ENST00000331762	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	A
KCNV1	27012	genome.wustl.edu	37	8	110984663	110984663	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr8:110984663C>A	ENST00000524391.1	-	3	1847	c.815G>T	c.(814-816)aGa>aTa	p.R272I	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.R272I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	272					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGCACCTTTCTTAGGAAGCG	0.547																																						dbGAP											0													91.0	73.0	79.0					8																	110984663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.815G>T	8.37:g.110984663C>A	ENSP00000435954:p.Arg272Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R272I	ENST00000524391.1	37	c.815	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150953	0.78001	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98937	-5.25;-5.25	5.71	5.71	0.89125	Ion transport (1);	0.049255	0.85682	D	0.000000	D	0.98570	0.9522	L	0.52905	1.665	0.80722	D	1	D	0.59357	0.985	P	0.58130	0.833	D	0.99851	1.1072	10	0.87932	D	0	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	272	Q6PIU1	KCNV1_HUMAN	I	272;272;148	ENSP00000435954:R272I;ENSP00000297404:R272I	ENSP00000297404:R272I	R	-	2	0	KCNV1	111053839	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	3.888000	0.56204	2.701000	0.92244	0.563000	0.77884	AGA	KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000164794		0.547	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	31	0.00	0	C	NM_014379		110984663	110984663	-1	no_errors	ENST00000297404	ensembl	human	known	69_37n	missense	19	47.22	17	SNP	1.000	A
KIAA1731	85459	genome.wustl.edu	37	11	93460372	93460372	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr11:93460372G>A	ENST00000325212.6	+	24	6892	c.6730G>A	c.(6730-6732)Gaa>Aaa	p.E2244K	KIAA1731_ENST00000344196.4_Missense_Mutation_p.E424K|KIAA1731_ENST00000411936.1_Missense_Mutation_p.E2244K|KIAA1731_ENST00000531700.1_Missense_Mutation_p.E424K			Q9C0D2	K1731_HUMAN	KIAA1731	2244						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCATCTGATGAAGCTAATGT	0.348																																						dbGAP											0													62.0	53.0	55.0					11																	93460372		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.6730G>A	11.37:g.93460372G>A	ENSP00000316681:p.Glu2244Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.E2244K	ENST00000325212.6	37	c.6730	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406347	0.62288	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000531404	T;T	0.10668	2.86;2.85	5.31	3.42	0.39159	.	.	.	.	.	T	0.08358	0.0208	L	0.38175	1.15	0.20307	N	0.999919	B;B;B	0.33318	0.194;0.408;0.408	B;B;B	0.31101	0.074;0.124;0.074	T	0.27536	-1.0071	9	0.36615	T	0.2	.	6.6692	0.23058	0.0948:0.1817:0.7235:0.0	.	2244;2244;424	Q9C0D2;Q9C0D2-3;Q9C0D2-2	K1731_HUMAN;.;.	K	2244;2244;424;424;256	ENSP00000316681:E2244K;ENSP00000406505:E2244K	ENSP00000316681:E2244K	E	+	1	0	KIAA1731	93100020	0.986000	0.35501	0.592000	0.28758	0.734000	0.41952	1.473000	0.35387	1.211000	0.43351	0.585000	0.79938	GAA	KIAA1731	-	NULL	ENSG00000166004		0.348	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	35	0.00	0	G	NM_033395		93460372	93460372	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.497	A
KIF6	221458	genome.wustl.edu	37	6	39607395	39607395	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:39607395C>A	ENST00000287152.7	-	4	484	c.390G>T	c.(388-390)caG>caT	p.Q130H	KIF6_ENST00000373215.3_Missense_Mutation_p.Q130H|KIF6_ENST00000373216.3_Missense_Mutation_p.Q130H|KIF6_ENST00000538893.1_Missense_Mutation_p.Q130H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	130	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTTTTGTAACTGTTCAAAAA	0.363																																						dbGAP											0													118.0	95.0	103.0					6																	39607395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.390G>T	6.37:g.39607395C>A	ENSP00000287152:p.Gln130His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q130H	ENST00000287152.7	37	c.390	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.90|11.90	1.776166|1.776166	0.31411|0.31411	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T|.	0.75367|.	-0.93;-0.93;-0.93;-0.93|.	5.67|5.67	0.935|0.935	0.19483|0.19483	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|T	0.14442|0.14442	0.0349|0.0349	N|N	0.04820|0.04820	-0.15|-0.15	0.80722|0.80722	D|D	1|1	B;B;P|.	0.36483|.	0.079;0.094;0.555|.	B;B;B|.	0.34242|.	0.077;0.07;0.178|.	T|T	0.05370|0.05370	-1.0889|-1.0889	9|5	0.06891|.	T|.	0.86|.	.|.	9.7601|9.7601	0.40526|0.40526	0.0:0.5323:0.0:0.4677|0.0:0.5323:0.0:0.4677	.|.	130;130;130|.	E7EUN7;F6VGH2;Q6ZMV9|.	.;.;KIF6_HUMAN|.	H|I	130|22	ENSP00000287152:Q130H;ENSP00000362312:Q130H;ENSP00000362311:Q130H;ENSP00000441435:Q130H|.	ENSP00000287152:Q130H|.	Q|S	-|-	3|2	2|0	KIF6|KIF6	39715373|39715373	0.939000|0.939000	0.31865|0.31865	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	-0.090000|-0.090000	0.11163|0.11163	0.248000|0.248000	0.21435|0.21435	0.655000|0.655000	0.94253|0.94253	CAG|AGT	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	69	0.00	0	C	NM_145027		39607395	39607395	-1	no_errors	ENST00000287152	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	0.996	A
KRT84	3890	genome.wustl.edu	37	12	52779047	52779047	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr12:52779047C>G	ENST00000257951.3	-	1	389	c.323G>C	c.(322-324)gGa>gCa	p.G108A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	108	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTGCCAGCTCCAAAGCCCAG	0.582																																						dbGAP											0													185.0	173.0	177.0					12																	52779047		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.323G>C	12.37:g.52779047C>G	ENSP00000257951:p.Gly108Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G108A	ENST00000257951.3	37	c.323	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533004	0.27387	.	.	ENSG00000161849	ENST00000257951	D	0.98862	-5.19	5.01	5.01	0.66863	.	0.308537	0.23975	N	0.042734	D	0.97673	0.9237	M	0.71581	2.175	0.25196	N	0.990098	P	0.52316	0.952	B	0.41860	0.368	D	0.93852	0.7146	10	0.29301	T	0.29	.	18.882	0.92358	0.0:1.0:0.0:0.0	.	108	Q9NSB2	KRT84_HUMAN	A	108	ENSP00000257951:G108A	ENSP00000257951:G108A	G	-	2	0	KRT84	51065314	0.882000	0.30256	0.287000	0.24848	0.071000	0.16799	4.003000	0.57061	2.763000	0.94921	0.609000	0.83330	GGA	KRT84	-	NULL	ENSG00000161849		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	81	0.00	0	C	NM_033045		52779047	52779047	-1	no_errors	ENST00000257951	ensembl	human	known	69_37n	missense	71	33.64	36	SNP	0.843	G
KRTAP13-3	337960	genome.wustl.edu	37	21	31797741	31797741	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr21:31797741G>C	ENST00000390690.2	-	1	545	c.490C>G	c.(490-492)Cag>Gag	p.Q164E		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	164						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGAATGGCTGATAACAAGAT	0.378																																						dbGAP											0													62.0	57.0	59.0					21																	31797741		1891	4143	6034	-	-	-	SO:0001583	missense	0			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.490C>G	21.37:g.31797741G>C	ENSP00000375109:p.Gln164Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LI78	Missense_Mutation	SNP	pfam_PMG	p.Q164E	ENST00000390690.2	37	c.490	CCDS13591.1	21	.	.	.	.	.	.	.	.	.	.	g	9.610	1.130906	0.21041	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.03441	3.93	3.9	-3.56	0.04626	.	1.208360	0.06627	U	0.758536	T	0.03608	0.0103	L	0.39245	1.2	0.09310	N	1	B	0.29432	0.244	B	0.30782	0.12	T	0.44559	-0.9320	10	0.66056	D	0.02	.	4.1664	0.10308	0.2543:0.0:0.4527:0.293	.	164	Q3SY46	KR133_HUMAN	E	164;154	ENSP00000375109:Q164E	ENSP00000375109:Q164E	Q	-	1	0	KRTAP13-3	30719612	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.624000	0.02038	-0.738000	0.04817	-0.311000	0.09066	CAG	KRTAP13-3	-	pfam_PMG	ENSG00000240432		0.378	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	18	0.00	0	G			31797741	31797741	-1	no_errors	ENST00000390690	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.000	C
LAMA4	3910	genome.wustl.edu	37	6	112499344	112499344	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:112499344C>G	ENST00000230538.7	-	10	1565	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	LAMA4_ENST00000389463.4_Missense_Mutation_p.D383H|LAMA4_ENST00000424408.2_Missense_Mutation_p.D383H|LAMA4_ENST00000522006.1_Missense_Mutation_p.D383H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	390	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCCTCATATCATGGGCTTGC	0.378																																						dbGAP											0													168.0	151.0	157.0					6																	112499344		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1168G>C	6.37:g.112499344C>G	ENSP00000230538:p.Asp390His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.D390H	ENST00000230538.7	37	c.1168	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589137	0.46110	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.05	0.0332	0.14179	Laminin I (1);	0.959571	0.08787	N	0.893771	T	0.02649	0.0080	N	0.14661	0.345	0.09310	N	0.999998	P;P	0.38335	0.627;0.573	B;B	0.42030	0.373;0.256	T	0.44390	-0.9331	10	0.49607	T	0.09	.	8.2735	0.31857	0.0:0.319:0.0:0.681	.	390;383	Q16363;Q16363-2	LAMA4_HUMAN;.	H	390;383;383;383	ENSP00000230538:D390H;ENSP00000429488:D383H;ENSP00000374114:D383H;ENSP00000416470:D383H	ENSP00000230538:D390H	D	-	1	0	LAMA4	112606037	0.000000	0.05858	0.003000	0.11579	0.934000	0.57294	-0.939000	0.03933	0.121000	0.18284	0.655000	0.94253	GAT	LAMA4	-	pfam_Laminin_I	ENSG00000112769		0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	132	0.00	0	C	NM_001105206		112499344	112499344	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	missense	81	39.55	53	SNP	0.005	G
LAMA5	3911	genome.wustl.edu	37	20	60904057	60904057	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr20:60904057G>C	ENST00000252999.3	-	34	4356	c.4290C>G	c.(4288-4290)ttC>ttG	p.F1430L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1430	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGTTGTTATAGAAGAGGGAGA	0.642																																						dbGAP											0													52.0	56.0	55.0					20																	60904057		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4290C>G	20.37:g.60904057G>C	ENSP00000252999:p.Phe1430Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.F1430L	ENST00000252999.3	37	c.4290	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657340	0.67586	.	.	ENSG00000130702	ENST00000252999	T	0.18016	2.24	4.48	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.38838	1.175	0.80722	D	1	D	0.67145	0.996	P	0.58210	0.835	T	0.01140	-1.1439	10	0.48119	T	0.1	.	8.043	0.30532	0.3302:0.0:0.6698:0.0	.	1430	O15230	LAMA5_HUMAN	L	1430	ENSP00000252999:F1430L	ENSP00000252999:F1430L	F	-	3	2	LAMA5	60337452	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.702000	0.54800	0.846000	0.35142	0.462000	0.41574	TTC	LAMA5	-	NULL	ENSG00000130702		0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	19	0.00	0	G	NM_005560		60904057	60904057	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	150023155	150023155	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:150023155T>A	ENST00000543571.1	-	2	655	c.108A>T	c.(106-108)gaA>gaT	p.E36D	LATS1_ENST00000542747.1_5'Flank|LATS1_ENST00000392273.3_Missense_Mutation_p.E36D|LATS1_ENST00000253339.5_Missense_Mutation_p.E36D	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCCTAAGGGATTCCCGAATTT	0.428																																						dbGAP											0													160.0	156.0	157.0					6																	150023155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.108A>T	6.37:g.150023155T>A	ENSP00000437550:p.Glu36Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.E36D	ENST00000543571.1	37	c.108	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	T	16.58	3.161798	0.57368	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.37235	1.21;1.21;1.21	5.33	4.17	0.49024	.	0.000000	0.53938	D	0.000046	T	0.18045	0.0433	M	0.71036	2.16	0.37355	D	0.910955	P;B	0.46142	0.873;0.075	B;B	0.38156	0.266;0.055	T	0.18147	-1.0346	9	.	.	.	.	3.7091	0.08413	0.0:0.2812:0.0:0.7188	.	36;36	O95835-2;O95835	.;LATS1_HUMAN	D	36	ENSP00000437550:E36D;ENSP00000253339:E36D;ENSP00000444678:E36D	.	E	-	3	2	LATS1	150064848	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.853000	0.55941	2.238000	0.73509	0.402000	0.26972	GAA	LATS1	-	NULL	ENSG00000131023		0.428	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	111	0.00	0	T	NM_004690		150023155	150023155	-1	no_errors	ENST00000253339	ensembl	human	known	69_37n	missense	57	38.04	35	SNP	1.000	A
LIPH	200879	genome.wustl.edu	37	3	185245369	185245369	+	Silent	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr3:185245369G>C	ENST00000296252.4	-	4	672	c.531C>G	c.(529-531)ctC>ctG	p.L177L	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	177			Missing (in HYPT7). {ECO:0000269|PubMed:17095700}.		lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTGCAGGGTCGAGGCCTGGAA	0.547																																						dbGAP											0													165.0	140.0	149.0					3																	185245369		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.531C>G	3.37:g.185245369G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L177	ENST00000296252.4	37	c.531	CCDS3272.1	3																																																																																			LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000163898		0.547	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	59	0.00	0	G			185245369	185245369	-1	no_errors	ENST00000296252	ensembl	human	known	69_37n	silent	75	30.91	34	SNP	0.062	C
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139102409	139102409	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr7:139102409G>A	ENST00000354926.4	+	9	1289	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LUC7L2_ENST00000541515.3_Missense_Mutation_p.R378H|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R311H|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R309H	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AGCCGTAGCCGCAGCCGTAGC	0.547																																						dbGAP											0													52.0	62.0	58.0					7																	139102409		2088	4213	6301	-	-	-	SO:0001583	missense	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.935G>A	7.37:g.139102409G>A	ENSP00000347005:p.Arg312His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_LUC7-rel	p.R378H	ENST00000354926.4	37	c.1133	CCDS43656.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971547	0.74246	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.33216	1.42;1.42;1.42;3.27	5.69	5.69	0.88448	.	0.050212	0.85682	D	0.000000	T	0.40347	0.1113	N	0.12746	0.255	0.53688	D	0.999973	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.74674	0.964;0.964;0.984;0.964	T	0.42666	-0.9438	9	0.49607	T	0.09	-6.5497	19.8108	0.96545	0.0:0.0:1.0:0.0	.	378;309;311;312	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	H	309;378;312;312;311	ENSP00000441604:R309H;ENSP00000440222:R378H;ENSP00000347005:R312H;ENSP00000263545:R311H	ENSP00000263545:R311H	R	+	2	0	LUC7L2	138752949	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.626000	0.61269	2.698000	0.92095	0.563000	0.77884	CGC	LUC7L2	-	NULL	ENSG00000146963		0.547	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	43	0.00	0	G			139102409	139102409	+1	no_errors	ENST00000541515	ensembl	human	known	69_37n	missense	28	45.10	23	SNP	0.999	A
MAGEC1	9947	genome.wustl.edu	37	X	140994861	140994861	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:140994861C>G	ENST00000285879.4	+	4	1957	c.1671C>G	c.(1669-1671)gaC>gaG	p.D557E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	557										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGGAGGACTCCCTATCTC	0.567										HNSCC(15;0.026)																												dbGAP											0													213.0	228.0	223.0					X																	140994861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1671C>G	X.37:g.140994861C>G	ENSP00000285879:p.Asp557Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D557E	ENST00000285879.4	37	c.1671	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	5.264	0.234185	0.09969	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	0.118	0.118	0.14667	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	0.53688	D	0.99997	B	0.27765	0.188	B	0.31245	0.126	T	0.54450	-0.8292	9	0.72032	D	0.01	.	2.9332	0.05805	0.4906:0.509:2.0E-4:2.0E-4	.	557	O60732	MAGC1_HUMAN	E	557	ENSP00000285879:D557E	ENSP00000285879:D557E	D	+	3	2	MAGEC1	140822527	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.062000	0.03468	0.179000	0.19938	0.181000	0.17075	GAC	MAGEC1	-	NULL	ENSG00000155495		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	43	0.00	0	C	NM_005462		140994861	140994861	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	50	32.43	24	SNP	0.901	G
MIR518A1	574488	genome.wustl.edu	37	19	54234290	54234290	+	RNA	SNP	T	T	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr19:54234290T>A	ENST00000385068.1	+	0	31				MIR518E_ENST00000385252.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030210.1				microRNA 518a-1																		GGGAAGCCCTTTCTGTTGTCT	0.438																																						dbGAP											0													134.0	132.0	132.0					19																	54234290		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54234290T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000385068.1	37	NULL		19																																																																																			MIR518A1	-	-	ENSG00000207803		0.438	MIR518A1-201	KNOWN	basic	miRNA	MIR518A1	HGNC	miRNA		95	0.00	0	T	NR_030210		54234290	54234290	+1	no_errors	ENST00000385068	ensembl	human	known	69_37n	rna	43	40.28	29	SNP	0.016	A
MPI	4351	genome.wustl.edu	37	15	75185065	75185065	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr15:75185065G>C	ENST00000352410.4	+	4	476	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	MPI_ENST00000563786.1_Missense_Mutation_p.E117Q|MPI_ENST00000563422.1_Missense_Mutation_p.E137Q|MPI_ENST00000323744.6_Missense_Mutation_p.E137Q|MPI_ENST00000562606.1_Missense_Mutation_p.E117Q|MPI_ENST00000565576.1_Missense_Mutation_p.E137Q|MPI_ENST00000566377.1_Missense_Mutation_p.E137Q|MPI_ENST00000535694.1_Missense_Mutation_p.E87Q|MPI_ENST00000564003.1_Missense_Mutation_p.E87Q			P34949	MPI_HUMAN	mannose phosphate isomerase	137					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCACAAGCCAGAGATGGCCAT	0.587																																						dbGAP											0													70.0	64.0	66.0					15																	75185065		2197	4295	6492	-	-	-	SO:0001583	missense	0				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.409G>C	15.37:g.75185065G>C	ENSP00000318318:p.Glu137Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K9|Q96AB0	Missense_Mutation	SNP	pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1	p.E137Q	ENST00000352410.4	37	c.409	CCDS10272.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.384164	0.95967	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.98666	-5.06;-5.06;-5.06	5.53	5.53	0.82687	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Phosphomannose isomerase, type I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98901	4.365	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97766	1.0223	10	0.72032	D	0.01	.	18.4474	0.90690	0.0:0.0:1.0:0.0	.	87;137;137;117;137	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	Q	137;87;117;137	ENSP00000318318:E137Q;ENSP00000440447:E87Q;ENSP00000318192:E137Q	ENSP00000318192:E137Q	E	+	1	0	MPI	72972118	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.618000	0.98365	2.599000	0.87857	0.585000	0.79938	GAG	MPI	-	pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1	ENSG00000178802		0.587	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPI	HGNC	protein_coding	OTTHUMT00000286418.4	31	0.00	0	G			75185065	75185065	+1	no_errors	ENST00000352410	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	C
MRPL9	65005	genome.wustl.edu	37	1	151735549	151735549	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:151735549C>T	ENST00000368830.3	-	2	311	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.R76Q|OAZ3_ENST00000453029.2_5'Flank|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.2_ENST00000420382.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	76					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GACGCGATGTCGCCGGTGCAG	0.662																																						dbGAP											0													51.0	54.0	53.0					1																	151735549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.227G>A	1.37:g.151735549C>T	ENSP00000357823:p.Arg76Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.R76Q	ENST00000368830.3	37	c.227	CCDS1003.1	1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502772	0.64298	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.35048	1.33;1.39	4.84	3.94	0.45596	.	0.000000	0.64402	D	0.000001	T	0.25382	0.0617	L	0.61218	1.895	0.42549	D	0.993105	D;D;D	0.64830	0.994;0.988;0.99	P;P;B	0.45946	0.498;0.498;0.424	T	0.10154	-1.0642	10	0.66056	D	0.02	-4.8984	8.9501	0.35783	0.0:0.9003:0.0:0.0997	.	76;76;76	B4DDZ7;B4DUJ1;Q9BYD2	.;.;RM09_HUMAN	Q	76	ENSP00000357823:R76Q;ENSP00000357822:R76Q	ENSP00000357822:R76Q	R	-	2	0	MRPL9	150002173	0.999000	0.42202	0.992000	0.48379	0.185000	0.23345	4.435000	0.59941	1.273000	0.44346	-0.140000	0.14226	CGA	MRPL9	-	NULL	ENSG00000143436		0.662	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	23	0.00	0	C	NM_031420		151735549	151735549	-1	no_errors	ENST00000368830	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	0.998	T
MTMR1	8776	genome.wustl.edu	37	X	149905753	149905753	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:149905753G>C	ENST00000370390.3	+	11	1439	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	MTMR1_ENST00000541925.1_Missense_Mutation_p.E334Q|MTMR1_ENST00000538506.1_Missense_Mutation_p.E253Q|MTMR1_ENST00000445323.2_Missense_Mutation_p.E436Q|MTMR1_ENST00000544228.1_Missense_Mutation_p.E428Q|MTMR1_ENST00000451863.2_Missense_Mutation_p.E428Q	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	428	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGATAAAATAGAATCTGGGAA	0.428																																						dbGAP											0													114.0	102.0	106.0					X																	149905753		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1282G>C	X.37:g.149905753G>C	ENSP00000359417:p.Glu428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.E436Q	ENST00000370390.3	37	c.1306	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563323	0.45694	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.88	4.88	0.63580	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.237101	0.42548	D	0.000692	D	0.94515	0.8234	M	0.80028	2.48	0.58432	D	0.999997	P;P	0.52170	0.951;0.563	P;B	0.47162	0.54;0.226	D	0.94886	0.8043	10	0.52906	T	0.07	.	17.332	0.87267	0.0:0.0:1.0:0.0	.	428;436	Q13613;F8WA39	MTMR1_HUMAN;.	Q	334;428;436;428;428;253	ENSP00000441879:E334Q;ENSP00000359417:E428Q;ENSP00000414178:E436Q;ENSP00000440534:E428Q;ENSP00000387446:E428Q;ENSP00000443444:E253Q	ENSP00000359417:E428Q	E	+	1	0	MTMR1	149656411	1.000000	0.71417	0.108000	0.21378	0.364000	0.29643	9.624000	0.98398	2.015000	0.59207	0.544000	0.68410	GAA	MTMR1	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	ENSG00000063601		0.428	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	100	0.00	0	G	NM_003828, NM_176789		149905753	149905753	+1	no_errors	ENST00000445323	ensembl	human	known	69_37n	missense	75	26.92	28	SNP	1.000	C
NFE2L3	9603	genome.wustl.edu	37	7	26224267	26224267	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr7:26224267G>A	ENST00000056233.3	+	4	1208	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	317					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GAATCTTCATGAGGCCATCTT	0.408																																						dbGAP											0													114.0	105.0	108.0					7																	26224267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.949G>A	7.37:g.26224267G>A	ENSP00000056233:p.Glu317Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E317K	ENST00000056233.3	37	c.949	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207751	0.79240	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.33216	1.42	5.06	5.06	0.68205	.	0.172913	0.49305	D	0.000149	T	0.52980	0.1768	M	0.72118	2.19	0.39485	D	0.967959	D	0.60575	0.988	P	0.60068	0.868	T	0.56486	-0.7971	10	0.51188	T	0.08	-23.1682	18.8191	0.92089	0.0:0.0:1.0:0.0	.	317	Q9Y4A8	NF2L3_HUMAN	K	317;23	ENSP00000056233:E317K	ENSP00000056233:E317K	E	+	1	0	NFE2L3	26190792	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.333000	0.52090	2.526000	0.85167	0.467000	0.42956	GAG	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	54	0.00	0	G			26224267	26224267	+1	no_errors	ENST00000056233	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	A
NUAK2	81788	genome.wustl.edu	37	1	205280937	205280937	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:205280937A>G	ENST00000367157.3	-	2	374	c.248T>C	c.(247-249)aTc>aCc	p.I83T		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTCCTTCCGGATTGACTTGAT	0.512																																						dbGAP											0													297.0	230.0	253.0					1																	205280937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.248T>C	1.37:g.205280937A>G	ENSP00000356125:p.Ile83Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I83T	ENST00000367157.3	37	c.248	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.393742	0.83011	.	.	ENSG00000163545	ENST00000367157	T	0.28255	1.62	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000322	T	0.62429	0.2427	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.70850	-0.4760	10	0.87932	D	0	.	15.1449	0.72643	1.0:0.0:0.0:0.0	.	83	Q9H093	NUAK2_HUMAN	T	83	ENSP00000356125:I83T	ENSP00000356125:I83T	I	-	2	0	NUAK2	203547560	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	9.309000	0.96252	2.052000	0.61016	0.379000	0.24179	ATC	NUAK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000163545		0.512	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	117	0.00	0	A	NM_030952		205280937	205280937	-1	no_errors	ENST00000367157	ensembl	human	known	69_37n	missense	126	28.81	51	SNP	1.000	G
OR52K2	119774	genome.wustl.edu	37	11	4471266	4471266	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr11:4471266C>G	ENST00000325719.4	+	1	742	c.697C>G	c.(697-699)Cag>Gag	p.Q233E		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q233*(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGCCTCTCAGGAGGCCCG	0.478																																						dbGAP											1	Substitution - Nonsense(1)	NS(1)											274.0	238.0	250.0					11																	4471266		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.697C>G	11.37:g.4471266C>G	ENSP00000318956:p.Gln233Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q233E	ENST00000325719.4	37	c.697	CCDS31351.1	11	.	.	.	.	.	.	.	.	.	.	C	6.267	0.417423	0.11870	.	.	ENSG00000181963	ENST00000325719	T	0.00032	8.88	4.02	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.353012	0.21224	N	0.078091	T	0.00109	0.0003	L	0.37897	1.145	0.24705	N	0.993231	B	0.30511	0.282	B	0.34038	0.174	T	0.04811	-1.0925	10	0.28530	T	0.3	.	4.8117	0.13347	0.3854:0.5113:0.0:0.1032	.	233	Q8NGK3	O52K2_HUMAN	E	233	ENSP00000318956:Q233E	ENSP00000318956:Q233E	Q	+	1	0	OR52K2	4427842	0.000000	0.05858	0.998000	0.56505	0.473000	0.32948	-0.565000	0.05929	0.876000	0.35872	-0.515000	0.04445	CAG	OR52K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181963		0.478	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	147	0.00	0	C	NM_001005172		4471266	4471266	+1	no_errors	ENST00000325719	ensembl	human	known	69_37n	missense	119	40.50	81	SNP	0.999	G
PHC2	1912	genome.wustl.edu	37	1	33795806	33795806	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:33795806C>A	ENST00000257118.5	-	12	2064	c.2011G>T	c.(2011-2013)Gtg>Ttg	p.V671L	PHC2_ENST00000419414.2_Missense_Mutation_p.V672L|PHC2_ENST00000431992.1_Missense_Mutation_p.V642L|PHC2_ENST00000373422.3_Missense_Mutation_p.V277L|MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.V136L|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Missense_Mutation_p.V136L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	671					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTGCATCCCACGTTGTACCTT	0.567																																						dbGAP											0													93.0	80.0	84.0					1																	33795806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2011G>T	1.37:g.33795806C>A	ENSP00000257118:p.Val671Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.V672L	ENST00000257118.5	37	c.2014	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.254736	0.95336	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	L	0.54908	1.71	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	D;D;D;D	0.81914	0.988;0.988;0.988;0.995	T	0.63915	-0.6529	10	0.39692	T	0.17	-16.836	18.3732	0.90420	0.0:1.0:0.0:0.0	.	672;643;671;86	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	L	642;671;277;136;249;672;136	ENSP00000389436:V642L;ENSP00000257118:V671L;ENSP00000362521:V277L;ENSP00000362517:V136L;ENSP00000391440:V672L;ENSP00000362515:V136L	ENSP00000257118:V671L	V	-	1	0	PHC2	33568393	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.218000	0.77991	2.941000	0.99782	0.655000	0.94253	GTG	PHC2	-	NULL	ENSG00000134686		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	74	0.00	0	C	NM_198040		33795806	33795806	-1	no_errors	ENST00000419414	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176659458	176659458	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:176659458G>A	ENST00000367662.3	+	5	3487	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A775T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	775					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCGACACCGCCCCCACTCC	0.567																																						dbGAP											0													98.0	103.0	101.0					1																	176659458		1991	4170	6161	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2323G>A	1.37:g.176659458G>A	ENSP00000356634:p.Ala775Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.A775T	ENST00000367662.3	37	c.2323	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446652	0.84101	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.79247	-1.25;1.39	5.51	4.58	0.56647	Peptidase M43, pregnancy-associated plasma-A (1);	0.162786	0.53938	D	0.000050	D	0.85643	0.5744	M	0.62209	1.925	0.47778	D	0.999513	D;D	0.89917	0.995;1.0	D;D	0.73708	0.916;0.981	D	0.84859	0.0818	10	0.36615	T	0.2	-10.5684	16.1344	0.81475	0.0:0.1439:0.8561:0.0	.	775;775	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	775	ENSP00000356634:A775T;ENSP00000356633:A775T	ENSP00000356633:A775T	A	+	1	0	PAPPA2	174926081	0.999000	0.42202	0.682000	0.30024	0.654000	0.38779	3.924000	0.56476	1.270000	0.44297	0.563000	0.77884	GCC	PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	35	0.00	0	G			176659458	176659458	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.999	A
POU1F1	5449	genome.wustl.edu	37	3	87309075	87309075	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr3:87309075G>C	ENST00000350375.2	-	6	969	c.845C>G	c.(844-846)tCt>tGt	p.S282C	POU1F1_ENST00000344265.3_Missense_Mutation_p.S308C|POU1F1_ENST00000560656.1_3'UTR	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	282					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CTTAGAAATAGAAAATAAACT	0.358																																						dbGAP											0													82.0	87.0	85.0					3																	87309075		2201	4299	6500	-	-	-	SO:0001583	missense	0			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.845C>G	3.37:g.87309075G>C	ENSP00000263781:p.Ser282Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S308C	ENST00000350375.2	37	c.923	CCDS2919.1	3	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749756	0.49257	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89415	-2.51;-2.51	6.16	6.16	0.99307	.	0.640663	0.17715	N	0.164458	D	0.92054	0.7482	L	0.47716	1.5	0.80722	D	1	P;B	0.39003	0.654;0.412	P;B	0.52424	0.698;0.219	D	0.90163	0.4229	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	308;282	P28069-2;P28069	.;PIT1_HUMAN	C	282;308	ENSP00000263781:S282C;ENSP00000342931:S308C	ENSP00000342931:S308C	S	-	2	0	POU1F1	87391765	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.510000	0.81708	2.937000	0.99478	0.650000	0.86243	TCT	POU1F1	-	NULL	ENSG00000064835		0.358	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU1F1	HGNC	protein_coding	OTTHUMT00000352827.1	75	0.00	0	G	NM_000306		87309075	87309075	-1	no_errors	ENST00000344265	ensembl	human	known	69_37n	missense	49	42.35	36	SNP	0.697	C
PROM2	150696	genome.wustl.edu	37	2	95945629	95945629	+	Silent	SNP	A	A	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr2:95945629A>G	ENST00000317620.9	+	11	1444	c.1311A>G	c.(1309-1311)ctA>ctG	p.L437L	PROM2_ENST00000317668.4_Silent_p.L437L|PROM2_ENST00000403131.2_Silent_p.L437L|PROM2_ENST00000542147.1_Silent_p.L437L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	437					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCGTGGTCCTATTCGTGGTGC	0.627																																						dbGAP											0													147.0	110.0	122.0					2																	95945629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1311A>G	2.37:g.95945629A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	pfam_Prominin	p.L437	ENST00000317620.9	37	c.1311	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin	ENSG00000155066		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	51	0.00	0	A	NM_144707		95945629	95945629	+1	no_errors	ENST00000317620	ensembl	human	known	69_37n	silent	43	35.82	24	SNP	0.616	G
PTCHD2	57540	genome.wustl.edu	37	1	11579485	11579485	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr1:11579485G>A	ENST00000294484.6	+	8	2101	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G655R	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	655					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGAGCAGGTTGGAGGCAGCCC	0.642																																						dbGAP											0													137.0	150.0	146.0					1																	11579485		2014	4181	6195	-	-	-	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1963G>A	1.37:g.11579485G>A	ENSP00000294484:p.Gly655Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.G655R	ENST00000294484.6	37	c.1963	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	g	8.624	0.892116	0.17613	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90900	-2.75;-2.75	5.52	4.55	0.56014	.	0.426067	0.23618	N	0.046273	D	0.85957	0.5818	L	0.40543	1.245	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.75557	-0.3276	10	0.39692	T	0.17	-25.7645	13.3131	0.60390	0.0:0.158:0.842:0.0	.	655	Q9P2K9	PTHD2_HUMAN	R	655	ENSP00000294484:G655R;ENSP00000374226:G655R	ENSP00000294484:G655R	G	+	1	0	PTCHD2	11502072	0.519000	0.26242	0.050000	0.19076	0.010000	0.07245	1.554000	0.36266	2.602000	0.87976	0.651000	0.88453	GGA	PTCHD2	-	pfam_Patched	ENSG00000204624		0.642	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	23	0.00	0	G	XM_052561		11579485	11579485	+1	no_errors	ENST00000294484	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.035	A
PTHLH	5744	genome.wustl.edu	37	12	28116284	28116284	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr12:28116284G>A	ENST00000545234.1	-	5	1061	c.521C>T	c.(520-522)tCa>tTa	p.S174L	PTHLH_ENST00000538310.1_Missense_Mutation_p.S174L|PTHLH_ENST00000354417.3_Missense_Mutation_p.S174L|PTHLH_ENST00000535992.1_Missense_Mutation_p.S174L|PTHLH_ENST00000395872.1_Missense_Mutation_p.S174L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Missense_Mutation_p.S174L|PTHLH_ENST00000395868.3_Missense_Mutation_p.S174L|PTHLH_ENST00000201015.4_Missense_Mutation_p.S174L			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	174					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CTGTTACCGTGAATCGAGCTC	0.582																																						dbGAP											0													82.0	69.0	73.0					12																	28116284		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.521C>T	12.37:g.28116284G>A	ENSP00000441765:p.Ser174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15251|Q6FH74	Missense_Mutation	SNP	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.S174L	ENST00000545234.1	37	c.521	CCDS44853.1	12	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334028	0.24253	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868	D;D;D;D;D;D;D;D	0.82984	-1.6;-1.6;-1.6;-1.67;-1.67;-1.64;-1.64;-1.64	5.63	-0.601	0.11638	.	0.870146	0.10366	N	0.683424	T	0.58192	0.2105	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46884	-0.9159	10	0.02654	T	1	.	8.988	0.36005	0.6306:0.0:0.3694:0.0	.	174	P12272	PTHR_HUMAN	L	174	ENSP00000379213:S174L;ENSP00000441571:S174L;ENSP00000441765:S174L;ENSP00000441890:S174L;ENSP00000346398:S174L;ENSP00000201015:S174L;ENSP00000440613:S174L;ENSP00000379209:S174L	ENSP00000201015:S174L	S	-	2	0	PTHLH	28007551	0.949000	0.32298	0.057000	0.19452	0.997000	0.91878	0.733000	0.26087	-0.092000	0.12417	0.591000	0.81541	TCA	PTHLH	-	NULL	ENSG00000087494		0.582	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	64	0.00	0	G	NM_198965		28116284	28116284	-1	no_errors	ENST00000354417	ensembl	human	known	69_37n	missense	34	48.48	32	SNP	0.138	A
PTPRA	5786	genome.wustl.edu	37	20	2985705	2985705	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr20:2985705C>G	ENST00000216877.6	+	9	1115	c.715C>G	c.(715-717)Ctc>Gtc	p.L239V	PTPRA_ENST00000425918.2_Missense_Mutation_p.L259V|PTPRA_ENST00000358719.4_Missense_Mutation_p.L104V|PTPRA_ENST00000399903.2_Missense_Mutation_p.L248V|PTPRA_ENST00000318266.5_Missense_Mutation_p.L239V|PTPRA_ENST00000356147.3_Missense_Mutation_p.L239V|PTPRA_ENST00000380393.3_Missense_Mutation_p.L248V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	248					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTTTCAGGCTCTCCCTGCATG	0.438																																						dbGAP											0													218.0	219.0	219.0					20																	2985705		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.715C>G	20.37:g.2985705C>G	ENSP00000216877:p.Leu239Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L259V	ENST00000216877.6	37	c.775	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778599	0.90195	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.63417	2.52;-0.04;2.52;2.52;2.52;2.52;2.52;2.52	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	U	0.000001	T	0.76054	0.3934	L	0.56396	1.775	0.80722	D	1	B;P;D;D	0.63880	0.124;0.553;0.989;0.993	B;B;D;D	0.68353	0.081;0.218;0.957;0.913	T	0.73541	-0.3950	10	0.39692	T	0.17	.	18.5318	0.90995	0.0:1.0:0.0:0.0	.	259;248;248;239	B7Z2A4;P18433-3;P18433;P18433-4	.;.;PTPRA_HUMAN;.	V	248;239;239;248;104;259;239;239	ENSP00000369756:L248V;ENSP00000414089:L239V;ENSP00000216877:L239V;ENSP00000382787:L248V;ENSP00000351559:L104V;ENSP00000393553:L259V;ENSP00000314568:L239V;ENSP00000348468:L239V	ENSP00000216877:L239V	L	+	1	0	PTPRA	2933705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.089000	0.76909	2.675000	0.91044	0.655000	0.94253	CTC	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	123	0.81	1	C			2985705	2985705	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	missense	71	38.26	44	SNP	1.000	G
RAB11FIP1	80223	genome.wustl.edu	37	8	37734696	37734696	+	Missense_Mutation	SNP	G	G	A	rs558154048	byFrequency	TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr8:37734696G>A	ENST00000330843.4	-	2	757	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.R101C|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.R101C|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.R249C	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	249					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTCCGGGACGAAGCAGCACT	0.502													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21460	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	133.0	135.0					8																	37734696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.745C>T	8.37:g.37734696G>A	ENSP00000331342:p.Arg249Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R249C	ENST00000330843.4	37	c.745	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197674	0.38806	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.34472	2.1;2.52;1.38;1.36	5.63	5.63	0.86233	.	0.207171	0.33515	N	0.004825	T	0.56601	0.1996	M	0.73962	2.25	0.22112	N	0.999358	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	P;P;P;P	0.62014	0.791;0.897;0.862;0.893	T	0.54569	-0.8274	10	0.56958	D	0.05	-6.4999	13.6659	0.62396	0.0:0.0:0.7799:0.2201	.	101;101;249;249	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	C	249;249;101;101	ENSP00000287263:R249C;ENSP00000331342:R249C;ENSP00000430009:R101C;ENSP00000430680:R101C	ENSP00000287263:R249C	R	-	1	0	RAB11FIP1	37853854	0.124000	0.22315	0.857000	0.33713	0.062000	0.15995	2.748000	0.47483	2.644000	0.89710	0.655000	0.94253	CGT	RAB11FIP1	-	NULL	ENSG00000156675		0.502	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	56	0.00	0	G	NM_025151		37734696	37734696	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	missense	52	40.91	36	SNP	0.087	A
RALGAPA1	253959	genome.wustl.edu	37	14	36096648	36096648	+	Silent	SNP	T	T	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr14:36096648T>G	ENST00000389698.3	-	33	5377	c.4987A>C	c.(4987-4989)Aga>Cga	p.R1663R	RALGAPA1_ENST00000307138.6_Silent_p.R1663R|RALGAPA1_ENST00000258840.6_Silent_p.R1710R|RALGAPA1_ENST00000382366.3_Silent_p.R1676R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1663	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCTAAATCTTTTAAACTGG	0.388																																						dbGAP											0													99.0	106.0	104.0					14																	36096648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4987A>C	14.37:g.36096648T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R1710	ENST00000389698.3	37	c.5128	CCDS32065.1	14																																																																																			RALGAPA1	-	NULL	ENSG00000174373		0.388	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	55	0.00	0	T	XM_210022		36096648	36096648	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	silent	34	44.26	27	SNP	1.000	G
RBMX	27316	genome.wustl.edu	37	X	135961212	135961212	+	Silent	SNP	T	T	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:135961212T>C	ENST00000320676.7	-	3	334	c.180A>G	c.(178-180)gcA>gcG	p.A60A	RBMX_ENST00000562646.1_Silent_p.A60A|RBMX_ENST00000565438.1_Intron|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Silent_p.A60A	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	60	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTAGCGTCTGCTGGGCTTT	0.388																																						dbGAP											0													156.0	134.0	141.0					X																	135961212		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.180A>G	X.37:g.135961212T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R62G	ENST00000320676.7	37	c.184	CCDS14661.1	X																																																																																			RBMX	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000147274		0.388	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	112	0.00	0	T	NM_002139		135961212	135961212	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419968	ensembl	human	novel	69_37n	missense	41	43.06	31	SNP	0.992	C
SEPT8	23176	genome.wustl.edu	37	5	132101177	132101177	+	Silent	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr5:132101177C>G	ENST00000378719.2	-	2	312	c.75G>C	c.(73-75)gtG>gtC	p.V25V	SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000378706.1_Silent_p.V25V|SEPT8_ENST00000378701.1_Silent_p.V25V|SEPT8_ENST00000378721.4_Silent_p.V25V|SEPT8_ENST00000296873.7_Silent_p.V25V|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000458488.2_Silent_p.V25V	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	25					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCGAAACCCACATGGCCGC	0.592																																						dbGAP											0													104.0	122.0	116.0					5																	132101177		2087	4244	6331	-	-	-	SO:0001819	synonymous_variant	0			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.75G>C	5.37:g.132101177C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.V25	ENST00000378719.2	37	c.75	CCDS43358.1	5																																																																																			SEPT8	-	pirsf_Septin	ENSG00000164402		0.592	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132827.2	17	0.00	0	C	XM_034872		132101177	132101177	-1	no_errors	ENST00000378719	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.994	G
SEC24A	10802	genome.wustl.edu	37	5	134032905	134032905	+	Silent	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr5:134032905C>T	ENST00000398844.2	+	14	2364	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	692					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATTCCTTCTCAGTGGACAGT	0.348																																						dbGAP											0													209.0	192.0	198.0					5																	134032905		1862	4100	5962	-	-	-	SO:0001819	synonymous_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2076C>T	5.37:g.134032905C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.L692	ENST00000398844.2	37	c.2076	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Sec23/24_trunk_dom	ENSG00000113615		0.348	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	202	0.00	0	C			134032905	134032905	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	silent	132	33.67	67	SNP	1.000	T
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)																																								-	-	-	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	SF3B1	-	superfamily_ARM-type_fold	ENSG00000115524		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	24	0.00	0	T			198266834	198266834	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	C
SP7	121340	genome.wustl.edu	37	12	53722734	53722734	+	Silent	SNP	T	T	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr12:53722734T>C	ENST00000536324.2	-	3	775	c.492A>G	c.(490-492)ggA>ggG	p.G164G	SP7_ENST00000303846.3_Silent_p.G164G|SP7_ENST00000537210.2_Silent_p.G146G	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	164					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCAGTTGCCTCCAGGGTGCA	0.622																																						dbGAP											0													28.0	33.0	31.0					12																	53722734		2051	4183	6234	-	-	-	SO:0001819	synonymous_variant	0			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.492A>G	12.37:g.53722734T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY26|Q3MJ72|Q7Z718	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G164	ENST00000536324.2	37	c.492	CCDS44897.1	12																																																																																			SP7	-	NULL	ENSG00000170374		0.622	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	40	0.00	0	T			53722734	53722734	-1	no_errors	ENST00000303846	ensembl	human	known	69_37n	silent	31	27.91	12	SNP	0.996	C
TGM3	7053	genome.wustl.edu	37	20	2297758	2297758	+	Silent	SNP	C	C	T	rs201594514		TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr20:2297758C>T	ENST00000381458.5	+	6	777	c.714C>T	c.(712-714)agC>agT	p.S238S	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	238					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGAATTGGAGCGGCACTTACA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20821	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													97.0	105.0	102.0					20																	2297758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.714C>T	20.37:g.2297758C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S238	ENST00000381458.5	37	c.714	CCDS33435.1	20																																																																																			TGM3	-	NULL	ENSG00000125780		0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	49	0.00	0	C	NM_003245		2297758	2297758	+1	no_errors	ENST00000381458	ensembl	human	known	69_37n	silent	31	30.43	14	SNP	0.001	T
TM2D3	80213	genome.wustl.edu	37	15	102190296	102190296	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr15:102190296C>G	ENST00000333202.3	-	3	243	c.238G>C	c.(238-240)Gac>Cac	p.D80H	TM2D3_ENST00000561373.1_Missense_Mutation_p.D15H|TM2D3_ENST00000428002.2_Missense_Mutation_p.D54H|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000559107.1_Missense_Mutation_p.D80H|TM2D3_ENST00000347970.3_Missense_Mutation_p.D54H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	80						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTATACAGTCTGCAGGAAGC	0.448																																						dbGAP											0													136.0	120.0	125.0					15																	102190296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.238G>C	15.37:g.102190296C>G	ENSP00000330433:p.Asp80His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	pfam_TM2	p.D80H	ENST00000333202.3	37	c.238	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668410	0.88348	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	T;T;T	0.74106	-0.81;-0.81;-0.81	5.53	5.53	0.82687	.	0.099352	0.64402	D	0.000003	D	0.84889	0.5572	M	0.65498	2.005	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.942;0.994	D;D;P;P	0.74348	0.983;0.938;0.785;0.838	D	0.85882	0.1423	10	0.66056	D	0.02	-39.69	16.9411	0.86218	0.0:1.0:0.0:0.0	.	80;54;54;80	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	H	54;54;80	ENSP00000402179:D54H;ENSP00000327584:D54H;ENSP00000330433:D80H	ENSP00000330433:D80H	D	-	1	0	TM2D3	100007819	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	4.277000	0.58939	2.587000	0.87381	0.655000	0.94253	GAC	TM2D3	-	NULL	ENSG00000184277		0.448	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	34	0.00	0	C	NM_078474		102190296	102190296	-1	no_errors	ENST00000333202	ensembl	human	known	69_37n	missense	19	56.82	25	SNP	1.000	G
TNRC18	84629	genome.wustl.edu	37	7	5415756	5415756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr7:5415756G>T	ENST00000430969.1	-	9	3056	c.2708C>A	c.(2707-2709)tCa>tAa	p.S903*	TNRC18_ENST00000399537.4_Nonsense_Mutation_p.S903*	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	903							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTGCTGCTGTGAGAAGAGCTG	0.701																																						dbGAP											0													10.0	12.0	12.0					7																	5415756		2000	4170	6170	-	-	-	SO:0001587	stop_gained	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2708C>A	7.37:g.5415756G>T	ENSP00000395538:p.Ser903*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Nonsense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S903*	ENST00000430969.1	37	c.2708	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.588679	0.99213	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4471	0.87581	0.0:0.0:1.0:0.0	.	.	.	.	X	903;903;305	.	ENSP00000382452:S903X	S	-	2	0	TNRC18	5382282	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	9.235000	0.95353	2.110000	0.64415	0.462000	0.41574	TCA	TNRC18	-	NULL	ENSG00000182095		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		8	0.00	0	G			5415756	5415756	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	nonsense	12	33.33	6	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C	rs587781589		TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr17:7577586A>C	ENST00000269305.4	-	7	884	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000420246.2_Missense_Mutation_p.I232S|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR	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	232	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)	GTTGTAGTGGATGGTGGTACA	0.552		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"""	46	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(5)|Insertion - In frame(4)|Insertion - Frameshift(1)	biliary_tract(5)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|endometrium(4)|breast(4)|NS(4)|bone(4)|lung(3)|oesophagus(3)|liver(3)|stomach(2)|central_nervous_system(2)|ovary(2)|thymus(1)											113.0	90.0	98.0					17																	7577586		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.695T>G	17.37:g.7577586A>C	ENSP00000269305:p.Ile232Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I232S	ENST00000269305.4	37	c.695	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387397	0.82902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.174276	0.51477	D	0.000096	D	0.99711	0.9889	M	0.85630	2.765	0.54753	D	0.999989	D;P;P;D;D;D	0.60160	0.976;0.805;0.937;0.98;0.98;0.987	D;P;P;D;D;P	0.72338	0.943;0.575;0.824;0.977;0.966;0.78	D	0.97280	0.9917	10	0.87932	D	0	-25.5076	12.3101	0.54924	1.0:0.0:0.0:0.0	.	232;232;139;232;232;232	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	232;232;232;232;232;232;221;139;100;139	ENSP00000410739:I232S;ENSP00000352610:I232S;ENSP00000269305:I232S;ENSP00000398846:I232S;ENSP00000391127:I232S;ENSP00000391478:I232S;ENSP00000425104:I100S;ENSP00000423862:I139S	ENSP00000269305:I232S	I	-	2	0	TP53	7518311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.061000	0.93913	2.074000	0.62210	0.379000	0.24179	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	52	0.00	0	A	NM_000546		7577586	7577586	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	12	63.64	21	SNP	1.000	C
TRIM42	287015	genome.wustl.edu	37	3	140409844	140409844	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr3:140409844C>G	ENST00000286349.3	+	4	2086	c.1895C>G	c.(1894-1896)tCt>tGt	p.S632C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	632	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACGTGGACTCTTTTGAGATG	0.408																																						dbGAP											0													139.0	127.0	131.0					3																	140409844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1895C>G	3.37:g.140409844C>G	ENSP00000286349:p.Ser632Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S632C	ENST00000286349.3	37	c.1895	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495113	0.64186	.	.	ENSG00000155890	ENST00000286349	T	0.59224	0.28	5.82	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.197081	0.36519	N	0.002543	T	0.56016	0.1957	N	0.14661	0.345	0.32467	N	0.543404	D	0.76494	0.999	D	0.66497	0.944	T	0.63287	-0.6671	10	0.54805	T	0.06	-27.7363	11.6958	0.51542	0.2468:0.7532:0.0:0.0	.	632	Q8IWZ5	TRI42_HUMAN	C	632	ENSP00000286349:S632C	ENSP00000286349:S632C	S	+	2	0	TRIM42	141892534	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.604000	0.24164	2.754000	0.94517	0.650000	0.86243	TCT	TRIM42	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155890		0.408	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	80	0.00	0	C	NM_152616		140409844	140409844	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	1.000	G
TRPC5	7224	genome.wustl.edu	37	X	111078166	111078166	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:111078166A>G	ENST00000262839.2	-	7	2797	c.1879T>C	c.(1879-1881)Tcc>Ccc	p.S627P		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	627					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTGATAGGAGTTGTTCATC	0.443																																						dbGAP											0													248.0	195.0	213.0					X																	111078166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1879T>C	X.37:g.111078166A>G	ENSP00000262839:p.Ser627Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S627P	ENST00000262839.2	37	c.1879	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707492	0.89018	.	.	ENSG00000072315	ENST00000262839	D	0.87887	-2.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.95475	0.8555	10	0.87932	D	0	-4.7851	14.8781	0.70510	1.0:0.0:0.0:0.0	.	628;627	Q59G51;Q9UL62	.;TRPC5_HUMAN	P	627	ENSP00000262839:S627P	ENSP00000262839:S627P	S	-	1	0	TRPC5	110964822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	1.895000	0.54865	0.441000	0.28932	TCC	TRPC5	-	prints_TRPC_channel,tigrfam_TRP_channel	ENSG00000072315		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	64	0.00	0	A	NM_012471		111078166	111078166	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	47	20.34	12	SNP	1.000	G
TTC28	23331	genome.wustl.edu	37	22	28395192	28395192	+	Silent	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr22:28395192G>C	ENST00000397906.2	-	16	4596	c.4455C>G	c.(4453-4455)gtC>gtG	p.V1485V	TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000452612.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1485					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GGTTGCCGATGACAGCCGCCA	0.617																																						dbGAP											0													15.0	15.0	15.0					22																	28395192		691	1590	2281	-	-	-	SO:0001819	synonymous_variant	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4455C>G	22.37:g.28395192G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1485	ENST00000397906.2	37	c.4455	CCDS46678.1	22																																																																																			TTC28	-	NULL	ENSG00000100154		0.617	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	26	0.00	0	G	XM_929318		28395192	28395192	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	silent	16	40.74	11	SNP	0.633	C
TTN	7273	genome.wustl.edu	37	2	179563606	179563606	+	Missense_Mutation	SNP	C	C	G	rs111671438	byFrequency	TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr2:179563606C>G	ENST00000591111.1	-	110	29991	c.29767G>C	c.(29767-29769)Gtt>Ctt	p.V9923L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8996L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V10240L			Q8WZ42	TITIN_HUMAN	titin	33662	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCAACAACTTTTTTGGCA	0.284																																						dbGAP											0													111.0	104.0	106.0					2																	179563606		1766	3973	5739	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29767G>C	2.37:g.179563606C>G	ENSP00000465570:p.Val9923Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V8996L	ENST00000591111.1	37	c.26986		2	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729741	0.30684	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.66815	-0.23	5.47	3.68	0.42216	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60830	0.2299	L	0.59436	1.845	0.24654	N	0.993502	B;B	0.23891	0.007;0.093	B;B	0.26770	0.015;0.073	T	0.57487	-0.7803	9	0.87932	D	0	.	5.748	0.18130	0.0:0.6672:0.1603:0.1725	.	9923;9923	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	L	8996;118	ENSP00000343764:V8996L	ENSP00000343764:V8996L	V	-	1	0	TTN	179271851	0.912000	0.30974	0.206000	0.23566	0.881000	0.50899	0.904000	0.28491	0.686000	0.31488	0.650000	0.86243	GTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.284	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	168	0.00	0	C	NM_133378		179563606	179563606	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	110	36.78	64	SNP	0.368	G
TUBB	203068	genome.wustl.edu	37	6	30691484	30691484	+	Silent	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr6:30691484G>C	ENST00000327892.8	+	4	951	c.645G>C	c.(643-645)ctG>ctC	p.L215L	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.L143L|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396389.1_Silent_p.L197L|TUBB_ENST00000396384.1_Silent_p.L143L	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	215					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCCGCACTCTGAAGCTGACCA	0.537																																						dbGAP											0													101.0	94.0	96.0					6																	30691484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.645G>C	6.37:g.30691484G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P05218|Q8WUC1|Q9CY33	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.L215	ENST00000327892.8	37	c.645	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	ENSG00000196230		0.537	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	18	0.00	0	G	NM_178014		30691484	30691484	+1	no_errors	ENST00000327892	ensembl	human	known	69_37n	silent	11	47.62	10	SNP	0.922	C
WDR13	64743	genome.wustl.edu	37	X	48463345	48463345	+	Silent	SNP	C	C	T			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chrX:48463345C>T	ENST00000218056.5	+	9	1888	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	WDR13_ENST00000376729.5_Silent_p.F461F	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	461						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						ATGTCAGCTTCAACTGCGACG	0.617																																						dbGAP											0													86.0	55.0	66.0					X																	48463345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1383C>T	X.37:g.48463345C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F461	ENST00000218056.5	37	c.1383	CCDS14302.1	X																																																																																			WDR13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000101940		0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	20	0.00	0	C			48463345	48463345	+1	no_errors	ENST00000218056	ensembl	human	known	69_37n	silent	18	41.94	13	SNP	1.000	T
YWHAZ	7534	genome.wustl.edu	37	8	101961020	101961020	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr8:101961020C>G	ENST00000395957.2	-	3	439	c.98G>C	c.(97-99)gGa>gCa	p.G33A	YWHAZ_ENST00000419477.2_Missense_Mutation_p.G33A|YWHAZ_ENST00000395953.2_Missense_Mutation_p.G33A|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000457309.1_Missense_Mutation_p.G33A|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G33A|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G33A|YWHAZ_ENST00000395956.3_Missense_Mutation_p.G33A|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G33A			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	33					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TAATTCAGCTCCTTGCTCAGT	0.463																																						dbGAP											0													29.0	33.0	32.0					8																	101961020		2153	4227	6380	-	-	-	SO:0001583	missense	0			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.98G>C	8.37:g.101961020C>G	ENSP00000379287:p.Gly33Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.G33A	ENST00000395957.2	37	c.98	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084863	0.76642	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293;ENST00000523131;ENST00000523938	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.5	5.5	0.81552	14-3-3 domain (4);	0.000000	0.64402	D	0.000004	T	0.50480	0.1618	M	0.74389	2.26	0.58432	D	0.999991	P;P	0.34562	0.457;0.457	B;B	0.36186	0.219;0.219	T	0.56098	-0.8035	10	0.72032	D	0.01	.	19.4636	0.94929	0.0:1.0:0.0:0.0	.	33;33	D0PNI1;P63104	.;1433Z_HUMAN	A	33	ENSP00000379287:G33A;ENSP00000398599:G33A;ENSP00000379288:G33A;ENSP00000379286:G33A;ENSP00000309503:G33A;ENSP00000379283:G33A;ENSP00000379281:G33A;ENSP00000395114:G33A;ENSP00000430058:G33A;ENSP00000429041:G33A;ENSP00000416551:G33A;ENSP00000394880:G33A;ENSP00000428381:G33A;ENSP00000430219:G33A	ENSP00000309503:G33A	G	-	2	0	YWHAZ	102030196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.957000	0.56730	2.597000	0.87782	0.650000	0.86243	GGA	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3	ENSG00000164924		0.463	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	20	0.00	0	C	NM_145690		101961020	101961020	-1	no_errors	ENST00000353245	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	G
ZFYVE20	64145	genome.wustl.edu	37	3	15115866	15115866	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr3:15115866G>C	ENST00000253699.3	-	14	2391	c.1778C>G	c.(1777-1779)tCa>tGa	p.S593*	ZFYVE20_ENST00000476527.2_Nonsense_Mutation_p.S593*	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	593	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGGTTGAGTTGAGCTAAGTGA	0.597																																						dbGAP											0													50.0	54.0	52.0					3																	15115866		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1778C>G	3.37:g.15115866G>C	ENSP00000253699:p.Ser593*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Nonsense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.S593*	ENST00000253699.3	37	c.1778	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.585232	0.97684	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	.	.	.	5.21	4.33	0.51752	.	0.935788	0.09068	N	0.853240	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-1.4267	2.9936	0.05991	0.1527:0.2007:0.5167:0.1299	.	.	.	.	X	593	.	ENSP00000253699:S593X	S	-	2	0	ZFYVE20	15090870	0.026000	0.19158	0.043000	0.18650	0.054000	0.15201	0.992000	0.29667	2.444000	0.82710	0.491000	0.48974	TCA	ZFYVE20	-	NULL	ENSG00000131381		0.597	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	57	0.00	0	G	NM_022340		15115866	15115866	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	nonsense	11	56.00	14	SNP	0.001	C
ZGPAT	84619	genome.wustl.edu	37	20	62340158	62340158	+	Missense_Mutation	SNP	G	G	A	rs201544347		TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr20:62340158G>A	ENST00000328969.5	+	2	353	c.226G>A	c.(226-228)Gat>Aat	p.D76N	ZGPAT_ENST00000369967.3_Missense_Mutation_p.D76N|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D76N|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D76N|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D76N	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	76					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCGCCAGGAAGATGCTGAGTA	0.652																																						dbGAP											0													45.0	52.0	49.0					20																	62340158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.226G>A	20.37:g.62340158G>A	ENSP00000332013:p.Asp76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.D76N	ENST00000328969.5	37	c.226	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912438	0.33721	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.09	4.09	0.47781	.	0.837653	0.10503	N	0.667065	T	0.37348	0.1000	M	0.70595	2.14	0.09310	N	1	B;P;P	0.42961	0.326;0.795;0.754	B;B;B	0.32805	0.091;0.141;0.153	T	0.38478	-0.9659	10	0.59425	D	0.04	2.0974	14.5037	0.67739	0.0:0.0:1.0:0.0	.	76;76;76	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	N	76	ENSP00000391176:D76N;ENSP00000348242:D76N;ENSP00000349634:D76N;ENSP00000403966:D76N;ENSP00000358984:D76N;ENSP00000332013:D76N	ENSP00000332013:D76N	D	+	1	0	ZGPAT	61810602	0.935000	0.31712	0.004000	0.12327	0.034000	0.12701	3.244000	0.51399	1.832000	0.53329	0.561000	0.74099	GAT	ZGPAT	-	NULL	ENSG00000197114		0.652	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	16	0.00	0	G	NM_181484		62340158	62340158	+1	no_errors	ENST00000328969	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.028	A
ZNF575	284346	genome.wustl.edu	37	19	44038639	44038639	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26V-01A-11D-A16D-09	TCGA-C8-A26V-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6c5a83f5-983f-434c-ac29-ddb84a7f1019	c546d2fb-09e7-4b5d-a39e-24d6a26e6341	g.chr19:44038639C>G	ENST00000314228.5	+	3	577	c.65C>G	c.(64-66)cCa>cGa	p.P22R	ZNF575_ENST00000601282.1_Missense_Mutation_p.P22R|ZNF575_ENST00000458714.2_Missense_Mutation_p.P121R	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				GGCAAGGAACCAGTGACCAAA	0.617																																						dbGAP											0													23.0	21.0	22.0					19																	44038639		2193	4294	6487	-	-	-	SO:0001583	missense	0			BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"""Zinc fingers, C2H2-type"""	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.65C>G	19.37:g.44038639C>G	ENSP00000315870:p.Pro22Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX54	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P121R	ENST00000314228.5	37	c.362	CCDS12623.1	19	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256468	0.22965	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.10099	2.91;3.16	4.03	0.589	0.17452	.	0.593574	0.14374	N	0.323577	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B;B	0.30068	0.139;0.267	B;B	0.24541	0.018;0.054	T	0.35325	-0.9793	10	0.87932	D	0	-0.8466	3.602	0.08028	0.1956:0.5904:0.0:0.214	.	22;121	Q86XF7;B3KQ07	ZN575_HUMAN;.	R	121;22	ENSP00000413956:P121R;ENSP00000315870:P22R	ENSP00000315870:P22R	P	+	2	0	ZNF575	48730479	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.219000	0.17641	0.125000	0.18397	-0.266000	0.10368	CCA	ZNF575	-	NULL	ENSG00000176472		0.617	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF575	HGNC	protein_coding	OTTHUMT00000463191.1	22	0.00	0	C	NM_174945		44038639	44038639	+1	no_errors	ENST00000458714	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.000	G
